28 research outputs found
De novo development of gliomas in a child with neurofibromatosis type 1, fragile X and previously normal brain magnetic resonance imaging
- Publication venue
- Digital Commons@Becker
- Publication date
- 01/01/2016
- Field of study
AbstractFifteen to 20% of children with neurofibromatosis type 1 develop low-grade glial neoplasms. However, since neuroimaging is not routinely obtained until a child is clinically symptomatic, little is known about presymptomatic radiographic characteristics of gliomas in this at-risk population. Herein, we describe a child with neurofibromatosis type 1 who initially had normal brain imaging before the development of multifocal gliomas. Comparison of these serial images demonstrated that brain tumors can arise de novo in children with this cancer predisposition syndrome, further underscoring the limited prognostic value of normal baseline magnetic resonance imaging
Temporal characteristics of semantic perseverations induced by blocked-cyclic picture naming
- Author
- Arbuthnott
- Bock
- Brown
- Campbell
- Cohen
- Damian
- Damian
- Dell
- Dell
- Dell
- Dell
- Esther Y. Hsiao
- Gary S. Dell
- Gordon
- Gotts
- Gotts
- Howard
- Humphreys
- Kertesz
- Kroll
- Levelt
- MacKay
- Martin
- Martin
- McCarthy
- Moses
- Myrna F. Schwartz
- Oppenheim
- Roach
- Sandson
- Santo Pietro
- Schnur
- Schnur
- Schwartz
- Tatiana T. Schnur
- Vitkovitch
- Vitkovitch
- Vitkovitch
- Wheeldon
- Wilshire
- Publication venue
- Publication date
- 01/03/2009
- Field of study
When unimpaired participants name pictures quickly, they produce many perseverations
that bear a semantic relation to the target, especially when the pictures are blocked by category.
Evidence suggests that the temporal properties of these "semantic perseverations" may differ from
typical lexical perseverations in aphasia. To explore this, we studied semantic perseverations
generated by participants with aphasia on a naming task with semantic blocking [Schnur, T. T.,
Schwartz, M. F., Brecher, A., & Hodgson, C. (2006). Semantic interference during blocked-cyclic
naming: Evidence from aphasia. Journal of Memory and Language, 54, 199-227]. The properties
of these perseverations were investigated by analyzing how often they occurred at each lag
(distance from prior occurrence) and how time (response-stimulus interval) influenced the lag
function. Chance data sets were created by reshuffling stimulus-response pairs in a manner that
preserved unique features of the blocking design. We found that the semantic blocking
manipulation did not eliminate the expected bias for short-lag perseverations (recency bias).
However, immediate (lag 1) perseverations were not invariably the most frequent, which hints at a source of inconsistency within and across studies. Importantly, there was not a reliable difference
between the lag functions for perseverations generated with a 5 s, compared to 1 s, responsestimulus
interval. The combination of recency bias and insensitivity to elapsed time indicates that
the perseveratory impetus in a named response does not passively decay with time but rather is
diminished by interference from related trials. We offer an incremental learning account of these
findings
Comprehensive and Integrated Genomic Characterization of Adult Soft Tissue Sarcomas
- Author
- Abeshouse Adam
- Adebamowo Clement
- Adebamowo Sally N.
- Akbani Rehan
- Akeredolu Teniola
- Ally Adrian
- Anderson Matthew L.
- Anur Pavana
- Appelbaum Elizabeth L.
- Armenia Joshua
- Auman J. Todd
- Bailey Matthew H.
- Baker Laurence
- Balasundaram Miruna
- Balu Saianand
- Barthel Floris P.
- Bartlett John
- Baylin Stephen B.
- Behera Madhusmita
- Belyaev Dmitry
- Bennett Joesph
- Benz Christopher
- Beroukhim Rameen
- Birrer Michael
- Bocklage Thèrése
- Bodenheimer Tom
- Boice Lori
- Bootwalla Moiz S.
- Bowen Jay
- Bowlby Reanne
- Boyd Jeff
- Brohl Andrew S.
- Brooks Denise
- Byers Lauren
- Carlsen Rebecca
- Castro Patricia
- Chen Hsiao-Wei
- Cherniack Andrew D.
- Chibon Fréderic
- Chin Lynda
- Cho Juok
- Chuah Eric
- Chudamani Sudha
- Cibulskis Carrie
- Cooper Lee A.D.
- Cope Leslie
- Cordes Matthew G.
- Crain Daniel
- Curley Erin
- Danilova Ludmila
- Dao Fanny
- Davis Ian J.
- Davis Lara E.
- Defreitas Timothy
- Delman Keith
- Demchok John A.
- Demetri George D.
- Demicco Elizabeth G.
- Dhalla Noreen
- Diao Lixia
- Ding Li
- DiSaia Phil
- Dottino Peter
- Doyle Leona A.
- Drill Esther
- Dubina Michael
- Eschbacher Jennifer
- Fedosenko Konstantin
- Felau Ina
- Ferguson Martin L.
- Frazer Scott
- Fronick Catrina C.
- Fulidou Victoria
- Fulton Lucinda A.
- Fulton Robert S.
- Gabriel Stacey B.
- Gao Jianjiong
- Gao Qingsong
- Gardner Johanna
- Gastier-Foster Julie M.
- Gay Carl M.
- Gehlenborg Nils
- Gerken Mark
- Getz Gad
- Godwin Andrew K.
- Godwin Eryn M.
- Gordienko Elena
- Grilley-Olson Juneko E.
- Gutman David A.
- Gutmann David H.
- Hayes D. Neil
- Hegde Apurva M.
- Heiman David I.
- Heins Zachary
- Helsel Carmen
- Hepperla Austin J.
- Higgins Kelly
- Hoadley Katherine A.
- Hobensack Shital
- Holt Robert A.
- Hoon Dave B.
- Hornick Jason L.
- Hoyle Alan P.
- Hu Xin
- Huang Mei
- Hutter Carolyn M.
- Iacocca Mary
- Ingram Davis R.
- Ittmann Michael
- Iype Lisa
- Jefferys Stuart R.
- Jones Corbin D.
- Jones Kevin B.
- Jones Steven J.M.
- Kalir Tamara
- Karlan Beth Y.
- Karseladze Apollon
- Kasaian Katayoon
- Kim Jaegil
- Kundra Ritika
- Kuo Hanluen
- Ladanyi Marc
- Lai Phillip H.
- Laird Peter W.
- Larsson Erik
- Lawrence Michael S.
- Lazar Alexander J.
- Lee Darlene
- Lee Sanghoon
- Lehmann Kjong-Van
- Leraas Kristen M.
- Lester Jenny
- Levine Douglas A.
- Li Irene
- Lichtenberg Tara M.
- Lin Pei
- Liu Eric Minwei
- Liu Jia
- Liu Wenbin
- Lolla Laxmi
- Lu Yiling
- Ma Yussanne
- Madan Rashna
- Maglinte Dennis T.
- Magliocco Anthony
- Maki Robert G.
- Mallery David
- Manikhas Georgy
- Mardis Elaine R.
- Mariamidze Armaz
- Marra Marco A.
- Martignetti John A.
- Martinez Cathleen
- Mayo Michael
- McLellan Michael D.
- Meier Sam
- Meng Shaowu
- Meyerson Matthew
- Mieczkowski Piotr A.
- Miller Christopher A.
- Mills Gordon B.
- Moore Richard A.
- Morris Scott
- Mose Lisle E.
- Mozgovoy Evgeny
- Mungall Andrew J.
- Mungall Karen
- Nalisnik Michael
- Naresh Rashi
- Newton Yulia
- Noble Michael S.
- Novak Janet E.
- Ochoa Angelica
- Olvera Narciso
- Owonikoko Taofeek K.
- Paklina Oxana
- Parfitt Jeremy
- Parker Joel S.
- Pastore Alessandro
- Paulauskis Joseph
- Penny Robert
- Pereira Elena
- Perou Amy H.
- Perou Charles M.
- Pihl Todd
- Pollock Raphael E.
- Potapova Olga
- Radenbaugh Amie J.
- Ramalingam Suresh S.
- Ramirez Nilsa C.
- Rathmell W. Kimryn
- Raut Chandrajit P.
- Reilly Colleen
- Reynolds Sheila M.
- Riedel Richard F.
- Roach Jeffrey
- Robertson A. Gordon
- Roszik Jason
- Rubin Brian P.
- Sadeghi Sara
- Saksena Gordon
- Salner Andrew
- Sanchez-Vega Francisco
- Sander Chris
- Schein Jacqueline E.
- Schmidt Heather K.
- Schultz Nikolaus
- Schumacher Steven E.
- Sekhon Harman
- Senbabaoglu Yasin
- Setdikova Galiya
- Shelton Candace
- Shelton Troy
- Shen Ronglai
- Shi Yan
- Shih Juliann
- Shmulevich Ilya
- Sica Gabriel L.
- Simons Janae V.
- Singer Samuel
- Sipahimalani Payal
- Skelly Tara
- Socci Nicholas
- Sofia Heidi J.
- Soloway Matthew G.
- Spellman Paul
- Sun Qiang
- Swanson Patricia
- Tam Angela
- Tan Donghui
- Tarnuzzer Roy
- Thiessen Nina
- Thompson Eric
- Thorne Leigh B.
- Tong Pan
- Torres Keila E.
- van de Rijn Matt
- Van Den Berg David J.
- Van Tine Brian A.
- Veluvolu Umadevi
- Verhaak Roel
- Voet Doug
- Voronina Olga
- Wan Yunhu
- Wang Jing
- Wang Zhining
- Weinstein John N.
- Weisenberger Daniel J.
- Wilkerson Matthew D.
- Wilson Richard K.
- Wise Lisa
- Wong Tina
- Wong Winghing
- Wrangle John
- Wu Ye
- Wyczalkowski Matthew
- Yang Liming
- Yau Christina
- Yellapantula Venkata
- Zenklusen Jean C.
- Zhang Hailei
- Zhang Hongxin
- Zhang Jiashan (Julia)
- Zmuda Erik
- Publication venue
- Publication date
- 01/01/2017
- Field of study
Sarcomas are a broad family of mesenchymal malignancies exhibiting remarkable histologic diversity. We describe the multi-platform molecular landscape of 206 adult soft tissue sarcomas representing 6 major types. Along with novel insights into the biology of individual sarcoma types, we report three overarching findings: (1) unlike most epithelial malignancies, these sarcomas (excepting synovial sarcoma) are characterized predominantly by copy-number changes, with low mutational loads and only a few genes (, , ) highly recurrently mutated across sarcoma types; (2) within sarcoma types, genomic and regulomic diversity of driver pathways defines molecular subtypes associated with patient outcome; and (3) the immune microenvironment, inferred from DNA methylation and mRNA profiles, associates with outcome and may inform clinical trials of immune checkpoint inhibitors. Overall, this large-scale analysis reveals previously unappreciated sarcoma-type-specific changes in copy number, methylation, RNA, and protein, providing insights into refining sarcoma therapy and relationships to other cancer types
The genetic architecture of the human cerebral cortex
- Author
- Adams Hieab H H
- Adams Hieab H H
- Agartz Ingrid
- Ahlijanian Michael
- Ahmad Shahzad
- Ainscough Susan
- Aisen Paul
- Albers Colleen S
- Albert Marilyn
- Alhusaini Saud
- Allard Joanne
- Almeida Marcio A A
- Alnæs Dag
- Alvim Marina K M
- Ames David
- Ames David
- Amin Najaf
- Amlien Inge K
- Amouyel Philippe
- Ances Beau
- Anderson Karen
- Anderson Tim J
- Andersson Micael
- Andreassen Ole A
- Andreassen Ole A
- Apostolova Liana
- Ard Tyler
- Arias-Vasquez Alejandro
- Armstrong Nicola J
- Armstrong Nicola J
- Arnedo Vanessa
- Arnold Steven E
- Artiges Eric
- Artiges Eric
- Ashley-Koch Allison
- Assaly Michele
- Assareh Amelia A
- Asthana Sanjay
- Atkins Joshua R
- Aydin Semiha
- Ayesa-Arriola Rosa
- Baca Marne
- Bachman David
- Banaschewski Tobias
- Barbot Alexis
- Barker Gareth
- Barone Paolo
- Bartha Rob
- Bartzokis George
- Bastin Mark E
- Bastin Mark E
- Bates Vernice
- Baune Bernhard T
- Becerra Mauricio
- Becker Andreas
- Becker James T
- Beckett Laurel
- Beckham Jean C
- Beiser Alexa S
- Belden Christine M
- Belger Aysenil
- Bell Karen L
- Berg Daniela
- Bergman Howard
- Bernard Manon
- Bernard Manon
- Bernick Charles
- Bernstein Matthew
- Beyer Frauke
- Bezivin-Frere Pauline
- Biondo Francesca
- Bis Joshua C
- Bis Joshua C
- Bishop Courtney
- Black Sandra
- Blangero John
- Blank Karen
- Bodge Courtney
- Bokde Arun
- Bonakdarpour Borna
- Boomsma Dorret I
- Borges-Neto Salvador
- Borowski Bret
- Borrie Michael
- Bralten Janita
- Brand Connie
- Brandabur Melanie
- Brandt Christine L
- Brewer James
- Brockington John
- Brodaty Henry
- Brodaty Henry
- Bromberg Uli
- Brooks David
- Brooks William M
- Brosch Jared R
- Brouwer Rachel M
- Brown Gregory G
- Bruehl Ruediger
- Brunner Han G
- Buckholtz Neil
- Buckner Randy L
- Budson Andrew E
- Buimer Elizabeth E L
- Buitelaar Jan K
- Burke Anna
- Burns Jeffrey M
- Bustillo Juan R
- Bülow Robin
- Bülow Robin
- Bürger Christian
- Bÿchel Christian
- Cabrera Yuliana
- Cahn Wiepke
- Cairns Murray J
- Cairns Nigel J
- Calhoun Vince
- Cannon Dara M
- Capote Horacio
- Carlsson Cynthia M
- Carmichael Owen
- Carr Vaughan J
- Carrillo Maria
- Carroll Maria
- Carson Richard E
- Carter Raina
- Casaceli Cynthia
- Casalin Paola
- Caseras Xavier
- Caspell Chelsea
- Caspers Svenja
- Catafau Ana
- Cavalleri Gianpiero L
- Cedarbaum Jesse
- Cellar Janet S
- Celmins Dzintra
- Cendes Fernando
- Chahine Lama
- Chakravarty Mallar
- Chalker Alison
- Chao Steven
- Chen Kewei
- Chen Qiang
- Chertkow Howard
- Cheung Joshua W
- Chiang Gloria
- Ching Christopher R K
- Chowdhury Munir
- Chowdhury Sohini
- Chu Congying
- Cichon Sven
- Clark Christopher M
- Clark David
- Coffey Christopher
- Coleman Edward
- Colodro-Conde Lucía
- Comery Thomas
- Conrad Gary
- Conrod Patricia
- Consortium CHARGE
- Consortium Enhancing NeuroImaging Genetics through Meta-Analysis
- Consortium EPIGEN
- Consortium IMAGEN
- Consortium SYS
- Correia Stephen
- Corvin Aiden
- Couvy-Duchesne Baptiste
- Crawford Karen
- Creech Mary L
- Crespo-Facorro Benedicto
- Crivello Fabrice
- Curran Joanne E
- D'Agostino Daniel
- Daedelow Laura
- Daiello Lori A
- Dale Anders M
- Dale Anders M
- Dalley Jeffrey
- Dalrymple-Alford John C
- Dalvie Shareefa
- Dang Mimi
- Dannlowski Udo
- Darin Abigail
- Davies Gareth E
- Davies Peter
- de Araujo Tânia K
- de Geus Eco J C
- de Zubicaray Greig I
- de Zwarte Sonja M C
- Deary Ian J
- Deary Ian J
- Debette Stephanie
- Debette Stephanie
- Decarli Charles
- DeCarli Charles
- Deeley Cheryl
- Degenhardt Franziska
- Delanty Norman
- DeMarco Kathryn
- den Braber Anouk
- Dennis Michelle F
- Depondt Chantal
- Desrivieres Sylvane
- Desrivières Sylvane
- Dietsche Bruno
- Djurovic Srdjan
- Doan Nhat Trung
- Doherty Colin P
- Dohm Katharina
- Dolen Sara
- Donohoe Gary
- Donohue Michael
- Doody Rachelle S
- Dooley Eoin
- Doraiswamy P Murali
- Drost Dick
- Duara Ranjan
- Dubow Jordan S
- Dunlop Becky
- Egebjerg Jan
- Ehrlich Stefan
- El Khouli Riham
- Engelbrecht Hannah-Ruth
- Erk Susanne
- Espay Alberto
- Espay Kristy
- Espeseth Thomas
- Espiritu Ryan
- Faber Kelley
- Factor Stewart
- Fan Chun Chieh
- Fargher Kristin
- Farlow Martin R
- Fatica Parianne
- Fedko Iryna O
- Feldman Howard
- Fernandez Hubert
- Fernández Guillén
- Figurski Michal
- Filippi Irina
- Fillit Howard
- Fillmer Ariane
- Finger Elizabeth
- Fisher Simon E
- Flashman Laura A
- Fleisher Adam
- Fletcher Evan
- Flor Herta
- Flor Herta
- Foley Sonya F
- Fontaine Deborah
- Fontoura Paulo
- Ford Judith M
- Fornage Myriam
- Fornage Myriam
- Foroud Tatiana
- Foroud Tatiana M
- Forstner Andreas J
- Foster Eric
- Foster Norm
- Fox Nick
- Francks Clyde
- Frank Richard
- Frank Samuel
- Franke Barbara
- Franklin Erin
- Franz Carol E
- Frasier Mark
- Frouin Vincent
- Fröhner Juliane
- Fukunaga Masaki
- Gaikwad Mrunalini
- Galasko Douglas
- Garavan Hugh
- Garijo Daniel
- Garrett Melanie E
- Gauss Katharina
- Ge Tian
- Geldmacher David
- Gessert Devon
- Ghanbari Mohsen
- Giddaluru Sudheer
- Gigliotti Christina
- Gil Yolanda
- Gillespie Nathan A
- Glahn David C
- Gloer Katherine
- Goldman Aaron L
- Goldstein Bonnie S
- Goldstein David B
- Gollub Randy L
- Gowland Penny
- Gowland Penny A
- Grabe Hans J
- Grabe Hans Jörgen
- Grachev Igor D
- Graff-Radford Neill R
- Grasby Katrina L
- Green Davis Robert C
- Green Melissa J
- Green Robert C
- Green Robert C
- Greig-Custo Maria T
- Griffith Randall
- Grimmer Yvonne
- Groenewold Nynke A
- Grossman Hillel
- Grotegerd Dominik
- Gruber Oliver
- Gudnason Vilmundur
- Gunter Jeff
- Gurholt Tiril P
- Guthrie Stephanie
- Gutman Boris A
- Hake Ann Marie
- Hansell Narelle K
- Hardy Peter
- Hariri Ahmad R
- Harlan Sherry
- Harless Kelly
- Harris Mat
- Harris Mathew A
- Harrison Marc B
- Hart David
- Hartman Catharina A
- Harvey Danielle
- Hashimoto Ryota
- Haswell Courtney C
- Hauser Michael
- Hauser Robert
- Hawkins Keith A
- Hefti Franz
- Heidebrink Judith L
- Heindel Walter
- Heinz Andreas
- Heinz Andreas
- Heinzen Erin L
- Henskens Frans A
- Hergesheimer Lindsey
- Herms Stefan
- Hernando Raymundo
- Herring Scott
- Heslenfeld Dirk J
- Hetelle Joel
- Hewitt David L
- Heyn Chris Chinthaka
- Hibar Derrek P
- Hillegers Manon H J
- Himali Jayandra J
- Ho Beng-Choon
- Ho New Fei
- Hoehn David
- Hoekstra Pieter J
- Hofer Edith
- Hofer Edith
- Hoffmann Per
- Hoffmann Wolfgang U
- Hofman Albert
- Hogarth Penelope
- Hohmann Sarah
- Holleran Laurena
- Holmes Avram J
- Holsboer Florian
- Holtzman David
- Homuth Georg
- Hong L Elliot
- Honig Lawrence S
- Hoogman Martine
- Hopkins William D
- Hosein Chris
- Hosten Norbert
- Hottenga Jouke-Jan
- Hsiao John
- Hsiung Ging-Yuek Robin
- Hu Shu-Ching
- Hulshoff Pol Hilleke E
- Hunter Christine
- Hynes Mary L
- Häusler Alexander N
- Håberg Asta K
- Ihlenfeld Albrecht
- Ikeda Masashi
- Ikram M Arfan
- Ikram M Arfan
- Ing Alex
- Initiative Alzheimer’s Disease Neuroimaging
- Initiative Parkinson’s Progression Markers
- Iranzo Alex
- Isaacson Stuart
- Isensee Corinna
- Ismail M Saleem
- Ittermann Bernd
- Jack Clifford R
- Jack Clifford R
- Jagust William
- Jahanshad Neda
- James Angela
- James Olga
- James Raymond
- Jang MiHyun
- Jankovic Joseph
- Janowitz Deborah
- Jansen Andreas
- Jansen Iris E
- Jennings Danna
- Jernigan Terry L
- Jia Tianye
- Jia Tianye
- Jian Xueqiu
- Jiang Jiyang
- Jicha Greg
- Jimenez Gustavo
- Jockwitz Christiane
- Johnson Kathleen
- Johnson Keith A
- Johnson Kris
- Johnson Nancy
- Johnson Patricia Lynn
- Johnson Sterling
- Jones David
- Jönsson Erik G
- Kahn René S
- Kanai Ryota
- Kantarci Kejal
- Karama Sherif
- Karama Sherif
- Karlawish Jason H
- Kasperaviciute Dalia
- Kass Joseph S
- Kataki Maria
- Kaufmann Tobias
- Kaye Jeffrey A
- Kelly Sinead
- Keltz Melanie
- Kennedy Martin A
- Kertesz Andrew
- Kerwin Diana
- Khachaturian Zaven
- Kieburtz Karl
- Kielb Stephanie
- Kikuchi Masataka
- Killiany Ronald
- Kim Sungeun
- Kimbrel Nathan A
- Kircher Tilo T J
- Kittur Smita
- Kiyasova Vera
- Klein Marieke
- Knapp Michael
- Knodt Annchen R
- Knol Maria J
- Knopman David
- Kochunov Peter
- Koeppe Robert A
- Koleva Hristina
- Kolskår Knut
- Koops Sanne
- Kopil Catherine
- Korecka Magdalena
- Kowalksi Nancy
- Kowall Neil
- Kremen Sarah
- Kremen William S
- Krug Axel
- Krämer Bernd
- Kuller Lew
- Kwok John B
- Kwok John B J
- Lah James J
- Lam Max
- Lamar Melissa
- Lamb Ashley
- Lancaster Thomas M
- Landau Susan
- Lane Barton
- Lasch Shirley
- Launer Lenore
- Le Hellard Stephanie
- Leach Christi
- Leary Laura
- Lee Athena
- Lee Phil H
- Lee T-Y
- Lee Virginia
- Lemaitre Hervé
- Lenahan Art
- Leonard Gabriel
- Lerner Alan
- Lethbridge Emma
- Lett Tristram A
- Leverenz James
- Levey Allan I
- Lewis Lindsay
- Lewis Lindsay B
- Li Shuo
- Liang Grace
- Lim Kelvin O
- Lin Honghuang
- Lin Michael
- Lind Betty
- Lind Penelope A
- Linder Carly
- Lipowski Kristine
- Loeffler Markus
- Logovinsky Veronika
- Logue Mark
- Longstreth W. T.
- Longstreth William T
- Lopes-Cendes Iscia
- Lopez Oscar L
- Lopez Oscar L
- Lord Joanne L
- Loughland Carmel M
- Love Marissa Natelson
- Lu Po H
- Luciano Michelle
- Luciano Michelle
- Luykx Jurjen J
- Lyons Michael J
- Macciardi Fabio
- Maillard Pauline
- Maingault Sophie
- Makino Kelly M
- Malferrari Giulia
- Malloy Paul
- Marek Kenneth
- Mari Zoltan
- Marquand Andre F
- Marshall Gad A
- Marson Daniel
- Martin Kim
- Martin Nicholas G
- Martinot Jean-Luc
- Martinot Jean-Luc
- Martinot Marie-Laure Paillère
- Mason Sara S
- Mathalon Daniel H
- Mather Karen A
- Mather Karen A
- Mathews Dana
- Mathias Samuel R
- Mathis Chet
- Mattay Venkata S
- Matthews Brandy R
- Matthews Sarah
- Mayoral Van Son Jaqueline
- Mazoyer Bernard
- Mazoyer Bernard
- McCoy Arita
- McDonald Colm
- McEwen Sarah C
- McMahon Katie L
- McMahon Mary Agnes B
- Medland Sarah E
- Melle Ingrid
- Melzer Tracy R
- Mendick Susan
- Mesulam M Marcel
- Mesulam Marek-Marsel
- Meyer Javier Villanueva
- Meyer-Lindenberg Andreas
- Michie Patricia T
- Milaneschi Yuri
- Millenet Sabina
- Miller Bruce L
- Miller Delwyn D
- Miller Sarah
- Minton Mark
- Mintun Mark A
- Mintz Akiva
- Mintzer Jacobo
- Miranda Ruben
- Mirza-Schreiber Nazanin
- Mishra Aniket
- Mitsis Effie
- Mollenhauer Brit
- Monahan Nancy
- Montine Tom
- Moreira Jose C V
- Morey Rajendra A
- Morris Derek W
- Morris John
- Morris John C
- Mosley Thomas H
- Mosley Thomas H
- Mota Nina Roth
- Mowry Bryan
- Mudge Benita
- Mueller Bryon A
- Muglia Pierandrea
- Mule Jennifer
- Muni Donna
- Mühleisen Thomas W
- Müller-Myhsok Bertram
- Najt Pablo
- Nakahara Soichiro
- Nam Ki Won
- Nauck Matthias
- Neale Michael C
- Nees Frauke
- Neu Scott
- Nho Kwangsik
- Nho Kwangsik
- Niessen Wiro J
- Norbash Alexander
- Nordvik Jan E
- Nyberg Lars
- Nöthen Markus M
- O'Leary Daniel S
- Oakley MaryAnn
- Oates Elizabeth
- Obisesan Thomas O
- Obradov Sanja
- Ogrocki Paula
- Ogunlana Olu
- Olde Loohuis Loes M
- Olichney John
- Oliver Angela
- Onyike Chiadi
- Oosterlaan Jaap
- Opel Nils
- Ophoff Roel A
- Orfanos Dimitri Papadopoulos
- Ostrowizki Suzanne
- Ott Brian R
- Ottmann Ruth
- Oyonumo Ntekim E
- Pacini Nathaniel
- Paillere Marie-Laure
- Painter Jodie N
- Panizzon Matthew S
- Pantelis Christos
- Papadopoulos Dimitri
- Parfitt Francine
- Pasternak Stephen
- Paul Steven
- Paus Tomas
- Paus Tomáš
- Pausova Zdenka
- Pausova Zdenka
- Pavese Nicola
- Pavlik Valory
- Pavlosky William
- Pawluczyk Sonia
- Pearlson Godfrey D
- Pearson John F
- Penninx Brenda W J H
- Pentilla Jani
- Perron Michel
- Perry David
- Petersen Ronald
- Petrella Jeffrey R
- Pierce Aimee
- Pike G Bruce
- Pike G Bruce
- Pirpamer Lukas
- Pitcher Toni L
- Pizzagalli Fabrizio
- Poewe Werner
- Poki-Walker Kim
- Polderman Tinca J C
- Poline Jean-Baptiste
- Pomara Nunzio
- Porsteinsson Anton P
- Portillo Alicia
- Posthuma Danielle
- Potkin Steven
- Potter William
- Poustka Luise
- Preda Adrian
- Psaty Bruce M
- Pütz Benno
- Quiceno Mary
- Quidé Yann
- Quinlan Erin B
- Quinlan Erin Burke
- Quinn Joseph
- Rachinsky Irina
- Radtke Rodney
- Ragothaman Anjanibhargavi
- Raichle Marc
- Rainka Michelle
- Raj Balebail Ashok
- Ranola Madelaine
- Rapp Michael
- Rashid Faisal M
- Rasser Paul E
- Ratnakar Varun
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- Wardlaw Joanna M
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- Weinberger Daniel R
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- Wen Wei
- Westlye Lars T
- Whelan Christopher D
- Whelan Robert
- Whelan Robert
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- Willeke Diana
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- Winkfield David
- Witbracht Megan
- Witt Stephanie H
- Witte A Veronica
- Wittfeld Katharina
- Wittfeld Katharina
- Wolf Christiane
- Wolfers Thomas
- Wolk David A
- Womack Kyle
- Wong Terence Z
- Woo Ellen
- Wright Margaret J
- Wright Margaret J
- Wu Chuang-Kuo
- Wu Jing Qin
- Wurster Isabel
- Xia Rui
- Yamamori Hidenaga
- Yanez Beatriz
- Yang Mia
- Yang Qiong
- Yang Qiong
- Yankey Jon
- Yasuda Clarissa L
- Yeh Randy
- Yesavage Jerome
- Zamrini Edward
- Zare Habil
- Zaremba Dario
- Zhang Zuo
- Zhou Juan
- Zhu Alyssa H
- Zimmerman Earl A
- Ziolkowski Jaimie
- Zsembik Leo C P
- Zwiers Marcel P
- Publication venue
- 'American Association for the Advancement of Science (AAAS)'
- Publication date
- 01/01/2020
- Field of study
The cerebral cortex underlies our complex cognitive capabilities, yet little is known about the specific genetic loci that influence human cortical structure. To identify genetic variants that affect cortical structure, we conducted a genome-wide association meta-analysis of brain magnetic resonance imaging data from 51,665 individuals. We analyzed the surface area and average thickness of the whole cortex and 34 regions with known functional specializations. We identified 199 significant loci and found significant enrichment for loci influencing total surface area within regulatory elements that are active during prenatal cortical development, supporting the radial unit hypothesis. Loci that affect regional surface area cluster near genes in Wnt signaling pathways, which influence progenitor expansion and areal identity. Variation in cortical structure is genetically correlated with cognitive function, Parkinson's disease, insomnia, depression, neuroticism, and attention deficit hyperactivity disorder
The evolving SARS-CoV-2 epidemic in Africa: Insights from rapidly expanding genomic surveillance
- Author
- Aanniz Tarek
- Abar Aden Elmi
- Abbad Anass
- Abdelfattah May
- Abdelhamid W.
- Abdella Saro
- Abdellah Faouzi
- Abdelmjid El Oualid
- Abdelmoula Fatma
- Abdelmoulah F.
- Abderrahmane Maaroufi
- Abderrazak Rfaki
- Abdillahi Idil Salah
- Abdissa Alemseged
- Abdo I.
- Abdoelraheem Mohamed Hassan
- Abe Haruka
- Abebe Markos
- Abechi Priscilla
- Abera Adugna
- Abi Rachid
- Abias Abe G.
- Abichu Getachew
- Abid N.
- Abid Nabil
- Abid Salma
- Abilio Nuro
- Abimbola Sharon
- Abo Shama Noura M
- Abosede O.
- Aboubaker Mohamed Houmed
- Abouelhoda Mohamed
- Abouelnaga S.
- Abualas Elamin
- Abubeker Ramalia Chabi
- Abuelenein Ehab Abdelkader
- Abuzaid Nadir
- Abworo Edward O.
- Ada Diosdado Odjama Nseng
- Addidle Michael
- Adegbola Richard
- Adegnika Akim A.
- Adegnika Ayola Akim
- Adel Abd Monaem
- Adeniji Johnson A.
- Adepetun Tomiwa
- Adesegun A.
- Adesuyi Omoare
- Adetifa Ifedayo M. O.
- Adewumi Olubusuyi M.
- Adewumi Oluwatimilehin
- Adewumi Praise
- Adeyemi Kayode T.
- Adhikari Bishwo N.
- Adil El Hamouchi
- Adjiratou Aissatou B. A.
- Adnew Bethlehem
- Adu Bright
- Adu Eric
- Adusei-Poku Mildred
- Agbenyo Seyram Bless
- Agbodzi B.
- Ageez A.M.
- Agoti Charles N.
- Aguenaou Hassan
- Agwa Sara Hassan
- Agweyu Ambrose
- Ahmed El Bara
- Ahmed Elhadi A.
- Ahmed Hatem
- Ahmed M.
- Ahmed O. S.
- Ahmed Rahma
- Ahmed Shymaa S.
- Ahmed Side Mohamed
- Ahmed Yahaya Ali
- Ahouidi Ambroise
- Ahuka-Mundeke Steve
- Ahumibe Anthony
- Ahyong Vida
- Aissam El Aliani
- Ajayi Nnennaya A.
- Ajibaye Solomon
- Ajili F.
- Ajogbasile F.V.
- Ajogbasile Fehintola V.
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- Akenji Blaise MBoringong
- Akhoud Youssef
- Akinola Monilade
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- Ali Mohamed Ahmed
- Ali Mushal
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- Diallo Sada
- Diarra B.
- Diarra Bassirou
- Diaw Papa Alassane
- Diawara Idrissa
- Dieng Alle Baba
- Dieng Assane
- Diergaardt Azaria
- Diop Mamadou
- Diop Oumy
- Djimde Abdoulaye
- Djingarey Mamoudou Harouna
- Djomsi Dowbiss Meta
- Djontu Jean Claude
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- Hicham Charoute
- Hicham Elannaz
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- Holland LaRinda A.
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- Huddleston John
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- Ian Lipkin W.
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- Ibrahim Samira F.
- Ibrahim Tomade A.M.
- Ige F.A.
- Iguosadolo Nosamiefan
- Ihazmad Hassan
- Ihekweazu Chikwe
- Iknane A.A.
- Imam Zeinab S.
- Inglês L.
- Inndi Rui
- Intyre Leigh-Anne MC
- Iranzadeh Arash
- Ismael Nalia
- Ismail A.
- Ismail Arshad
- Isong Josiah Ayoola
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- Jefferies Sarah
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- Jimoh Yusuf
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- Jo Wendy Karen
- JOEL Ireoluwa Yinka
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- Kakai Clement G.
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- Kamara Santigie
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- Kapaya F.
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- Maruapula Dorcas
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- Shiningavamwe Andreas
- Shipingana Loide
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- Sitharam Nikita
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- Stefanov Emily K.
- Stoecker Kilian
- Storey Matt
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- Tesfaye Gelanew
- Tesfaye Kassahun
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- Thilliez Gaetan
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- Tongo Marcel
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- Trabelsi Sameh
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- Tsegay Yao
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- Tsiry R.
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- Tuki Keyru
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- Tushabe Phionah
- Tuyisenge Patrick
- Tyers Lynn
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- Ugwu C.A.
- Ulrich M.
- Umumararungu Esperance
- Umuringa Jeanne d’Arc
- Upton Arlo
- Ushijima Yuri
- Ussher James
- Utpatel Christian
- Uwanibe Jessica N.
- Uwituze Arlene
- van der Eijk Annemiek
- van der Linden Anne
- van der Linden Antje
- van der Werf Sylvie
- Van Rooyen G.
- van Rooyen Gerhard
- van Wyk Stephanie
- van Zyl Gert U.
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- Vanmechelen Bert
- Vanpeene Maud
- Velavan Thirumalaisamy P.
- Venter Marietjie
- Vernet Marie-Astrid
- Viana R.
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- Victoir Kathleen
- Vida Ahyong
- Vidal Nicole
- Viegas Sofia
- Vincent Grace
- Vinze Anika
- Voegtly Logan J.
- von Gottberg Anne
- Waberi Zeinab Ali
- Wadi Amira Suliaman
- Wadonda N.
- Wadula J.
- Wagner Philipp
- Wahab Kolawole Wasiu
- Waitumbi John
- Walter Mathias C.
- Wamala Joseph F.
- Wandera Dennis N.
- Wang Jing
- Wang Xiuhua
- Wani Gregory
- Wanjohi Dorcas W.
- Wanok Stephen
- Waruhiu C.N.
- Waruhiu Cecilia
- Wasfi Fares
- Watters Chaselynn M.
- Wawina-Bokalanga Tony
- Wayengera Misaki
- Wayoro Oby
- Webby R.
- Webby Richard
- Weldemariam A.G.
- Weldemariam Atsbeha G.
- Werno Anja
- Wiley Michael R.
- Wilkinson David
- Wilkinson Eduan
- Williamson Carolyn
- Wilson Shannon
- Woelfel R.
- Wohl Shirlee
- Wolh S.
- Wolter Nicole
- Wuduri Zara
- Wulf Ben
- Wurie I.
- Wurie Isatta
- Xavier Joicymara S.
- Xiang Zuzheng
- Xie Hong
- Yadouleton Anges
- Yadouleton Yahya
- Yakout Mostfa
- Yandoko Rivalyn Nakoune
- Yang Qi
- Yao Kouadio T.
- Yassine Kasmi
- Yassine Zouheir
- Yasuda Jiro
- Yatassaye Bouna
- Yeboah C.
- Yeboah Richmond
- Yeboah-Manu Dorothy
- Yemi Bright K.
- Yiaba Cyrus
- Yiaba Warren Cyrus
- Yu Popova A.
- Yusuf Nyam Itse
- Yusuf Yacob Mohamed
- Zablon J. Matoke D.
- Zablon J.O.
- Zaher Tarek Refaat Elnagdy Raafat
- Zahra El Ansari Fatima
- Zahran Manal Hamdy
- Zekri Abdel-Rahman N.
- Zhang J.
- Zhou Pei
- Zinyowera Sekesai
- Zong Minko O.
- Zongo Arsène
- Zorgani A.
- Zouaki Amal
- Zulu P.
- Zumla Ali
- Zumla Alimuddin
- Zuze Boitumelo
- Publication venue
- 'American Association for the Advancement of Science (AAAS)'
- Publication date
- 07/10/2022
- Field of study
INTRODUCTION
Investment in Africa over the past year with regard to severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) sequencing has led to a massive increase in the number of sequences, which, to date, exceeds 100,000 sequences generated to track the pandemic on the continent. These sequences have profoundly affected how public health officials in Africa have navigated the COVID-19 pandemic.
RATIONALE
We demonstrate how the first 100,000 SARS-CoV-2 sequences from Africa have helped monitor the epidemic on the continent, how genomic surveillance expanded over the course of the pandemic, and how we adapted our sequencing methods to deal with an evolving virus. Finally, we also examine how viral lineages have spread across the continent in a phylogeographic framework to gain insights into the underlying temporal and spatial transmission dynamics for several variants of concern (VOCs).
RESULTS
Our results indicate that the number of countries in Africa that can sequence the virus within their own borders is growing and that this is coupled with a shorter turnaround time from the time of sampling to sequence submission. Ongoing evolution necessitated the continual updating of primer sets, and, as a result, eight primer sets were designed in tandem with viral evolution and used to ensure effective sequencing of the virus. The pandemic unfolded through multiple waves of infection that were each driven by distinct genetic lineages, with B.1-like ancestral strains associated with the first pandemic wave of infections in 2020. Successive waves on the continent were fueled by different VOCs, with Alpha and Beta cocirculating in distinct spatial patterns during the second wave and Delta and Omicron affecting the whole continent during the third and fourth waves, respectively. Phylogeographic reconstruction points toward distinct differences in viral importation and exportation patterns associated with the Alpha, Beta, Delta, and Omicron variants and subvariants, when considering both Africa versus the rest of the world and viral dissemination within the continent. Our epidemiological and phylogenetic inferences therefore underscore the heterogeneous nature of the pandemic on the continent and highlight key insights and challenges, for instance, recognizing the limitations of low testing proportions. We also highlight the early warning capacity that genomic surveillance in Africa has had for the rest of the world with the detection of new lineages and variants, the most recent being the characterization of various Omicron subvariants.
CONCLUSION
Sustained investment for diagnostics and genomic surveillance in Africa is needed as the virus continues to evolve. This is important not only to help combat SARS-CoV-2 on the continent but also because it can be used as a platform to help address the many emerging and reemerging infectious disease threats in Africa. In particular, capacity building for local sequencing within countries or within the continent should be prioritized because this is generally associated with shorter turnaround times, providing the most benefit to local public health authorities tasked with pandemic response and mitigation and allowing for the fastest reaction to localized outbreaks. These investments are crucial for pandemic preparedness and response and will serve the health of the continent well into the 21st century
Retrospective evaluation of whole exome and genome mutation calls in 746 cancer samples
- Author
- A Gordon Robertson
- Abdullah Kahraman
- Abel Gonzalez-Perez
- Adam A Margolin
- Adam Abeshouse
- Adam Grundhoff
- Adam J Struck
- Adam J Struck
- Adam J Wright
- Adam Lambert
- Adam P Butler
- Adam P Butler
- Adel El-Naggar
- Adnan M Nagrial
- Adrian Ally
- Adrian Baez-Ortega
- Adrian Thorogood
- Adriana Salcedo
- Adrienne M Flanagan
- Ake Borg
- Akihiro Fujimoto
- Akihiro Suzuki
- Akinyemi I Ojesina
- Alain Viari
- Alan J Robertson
- Alan P Hoyle
- Alan Thompson
- Alasdair Stenhouse
- Alastair M Thompson
- Aldo Scarpa
- Alessandro Pastore
- Alex Buchanan
- Alex Buchanan
- Alexander Claviez
- Alexander J Lazar
- Alexander Martinez-Fundichely
- Alfonso Muñoz
- Alfonso Valencia
- Aliaksei Z Holik
- Alice Meng
- Alicia L Bruzos
- Allison Creason
- Allison P Heath
- Alvin Wei Tian Ng
- Alvis Brazma
- Amaro Taylor-Weiner
- Amber L Johns
- Amie Radenbaugh
- Amit G Deshwar
- Ana Dueso-Barroso
- Ana Mijalkovic Mijalkovic-Lazic
- Ana Milovanovic
- Ana Milovanovic
- Andre Kahles
- Andrea Haake
- Andrea Holbrook
- Andrea L Richardson
- Andrea Mafficini
- Andrea Ruzzenente
- Andreas Behren
- Andreas Rosenwald
- Andreia V Pinho
- Andrew Berchuck
- Andrew D Cherniack
- Andrew J Dunford
- Andrew J Mungall
- Andrew J Spillane
- Andrew Menzies
- Andrew Menzies
- Andrew P Barbour
- Andrew Tutt
- Andrew V Biankin
- Andrey Korshunov
- Andrés Lanzós
- Andy Cafferkey
- Andy G Lynch
- Angela Chou
- Angela N Brooks
- Angela Tam
- Angelica Ochoa
- Angelika N Christ
- Angelo P Dei Tos
- Anieta M Sieuwerts
- Anil K Sood
- Anita Langerød
- Anja Füllgrabe
- Anke K Bergmann
- Ann-Marie Patch
- Anna deFazio
- Anna Ehinger
- Anna Fitzgerald
- Anne Hamilton
- Anne Vincent-Salomon
- Anne Y Warren
- Anne-Lise Børresen-Dale
- Annegien Broeks
- Anthony DiBiase
- Anthony J Gill
- Anthony Ng
- Anthony R Green
- Antonia L Pritchard
- Antonio Pea
- Antonios Koures
- Aparna Prasad
- Apurva M Hegde
- Aquila Fatima
- Arcadi Navarro
- Arie B Brinkman
- Arif O Harmanci
- Arindam Maitra
- Armando Lopez-Guillermo
- Arndt Borkhardt
- Arnoud Boot
- Asger Hobolth
- Ashley Williams
- Ashton A Connor
- Atul J Butte
- Aurélien Chateigner
- Austin J Hepperla
- Axel Aretz
- Aya Sasaki-Oku
- Ayellet V Segre
- B F Francis Ouellette
- Bailey Matthew H
- Barbara Hutter
- Barbara Hutter
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- Bartha M Knoppers
- Beifang Niu
- Beifang Niu
- Beifang Niu
- Benedikt Brors
- Benita Kiat Tee Tan
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- Bernardo Rodriguez-Martin
- Bernhard Radlwimmer
- Bernice H Wong
- Beth Karlan
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- Carlos López-Otín
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- Carmen Gomez
- Carolien H M van Deurzen
- Carolyn M Hutter
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- Cristina López
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- Dai-Ying Wu
- Daiming Fan
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- Daniel Baumhoer
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- Eigo Shimizu
- Ekta Khurana
- Elaine R Mardis
- Electron Kebebew
- Elena Piñeiro-Yáñez
- Elena Provenzano
- Elias Campo
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- Elisabetta Sereni
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- Elizabeth L Appelbaum
- Elizabeth L Christie
- Elli Papaemmanuil
- Ellrott Kyle
- Emilie Lalonde
- Eoghan Harrington
- Eric Chuah
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- Fatima Al-Shahrour
- Federico Abascal
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- Felicity Newell
- Fenglin Liu
- Fernanda Amary
- Ferran Muiños
- Florian Markowetz
- Fouad Yousif
- Francesc Muyas
- Francesco Favero
- Francisco M De La Vega
- Francisco Sanchez-Vega
- Fraser R Duthie
- Fred Sweep
- Freddie C Hamdy
- Fruzsina Molnár-Gábor
- Fumie Hosoda
- G Petur Nielsen
- G Steven Bova
- Gad Getz
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- Gaetano Finocchiaro
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- Genta Nagae
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- Georgia Escaramis
- Georgina V Long
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- German Ott
- Gerrit K Hooijer
- Gerstein Mark B
- Gert G Van den Eynden
- Getz Gad
- Ghislaine Scelo
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- Giampaolo Tortora
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- Giuseppe Malleo
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- Haiyan Irene Li
- Han Liang
- Hana Susak
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- Hikmat Al-Ahmadie
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- Hirofumi Rokutan
- Hirokazu Taniguchi
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- Li Shantao
- Liang Wen-Wei
- Liangtao Zheng
- Lieven P C Verbeke
- Lihua Zou
- Liis Uusküla-Reimand
- Liliana Greger
- Liming Yang
- Lin Li
- Lina Sieverling
- Lina Wadi
- Lincoln D Stein
- Linda Mileshkin
- Linghua Wang
- LiRehan Akbani
- Lisa Lype
- Lisa Mirabello
- Lisle E Mose
- Liu Xi
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- Lixing Yang
- Lora Lewis
- Lorenz H P Trümper
- Loretta M S Lau
- Lori Boice
- Loris Mularoni
- Lorraine A Chantrill
- Louis Letourneau
- Luc Dirix
- Luca Landoni
- Luca Malcovati
- Lucas Lochovsky
- Lucila Ohno-Machado
- Lucinda A Fulton
- Lucy Matthews
- Lucy Stebbings
- Lucy Stebbings
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- Luisa Mantovani-Löffler
- Luke Marsden
- Maciej Wiznerowicz
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- Marcel Smid
- Marcin Imielinski
- Marco A Marra
- Marco Miotto
- Marcus Bosenberg
- Marek Cmero
- Maria Elisabeth Goebler
- Maria Keays
- Maria O'Donovan
- Maria Scardoni
- Maria Vittoria Davi
- Marie-Laure Yaspo
- Marina Pajic
- Mario Berrios
- Mario Cazzola
- Marius Rohde
- Mark A Rubin
- Mark B Gerstein
- Mark B Gerstein
- Mark H Wright
- Mark Lathrop
- Mark P Hamilton
- Mark Phillips
- Mark Pinese
- Mark Shackleton
- Markus B Schilhabel
- Markus Kreuz
- Markus Loeffler
- Markus Ringnér
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- Marta Paczkowska
- Marta Tojo
- Martin Hansmann
- Martin L Ferguson
- Martin Peifer
- Mary J Goldman
- Masakazu Yamamoto
- Masaki Ueno
- Masashi Fujita
- Masashi Fukayama
- Matteo Fassan
- Matthew A Field
- Matthew A Reyna
- Matthew D Wilkerson
- Matthew Eldridge
- Matthew G Cordes
- Matthew G Soloway
- Matthew H Bailey
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- Matthew J Anderson
- Matthew Meyerson
- Matthew R Huska
- Matthew Ringel
- Matthew W Fittall
- Matthias Bieg
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- Matthias Schlesner
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- Mattia Bosio
- Maxime Tarabichi
- Maximillian G Marin
- Mayuko Furuta
- Mei Huang
- Melpomeni Kasapi
- Meyerson William U
- Mi Ni Huang
- Mia Nastic
- Michael A Hollingsworth
- Michael Birrer
- Michael C Heinold
- Michael C Heinold
- Michael C Quinn
- Michael C Wendl
- Michael C Wendl
- Michael D McLellan
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- Michael D McLellan
- Michael Dunn
- Michael Fraser
- Michael H A Roehrl
- Michael Hummel
- Michael Ittmann
- Michael Kneba
- Michael Koscher
- Michael Mayo
- Michael R Stratton
- Michael S Lawrence
- Michael S Noble
- Michele Milella
- Michele Simbolo
- Michelle Chan-Seng-Yue
- Michelle Sam
- Michelle T Dow
- Miguel Betancourt
- Miguel Vazquez
- Mihoko Saito-Adachi
- Milana Frenkel-Morgenstern
- Milena Kovacevic
- Ming Ta Michael Lee
- Ming Tsao
- Miranda D Stobbe
- Miranda D Stobbe
- Miriam R Aure
- Miruna Balasundaram
- Mitsuhiro Komura
- Mohamed Helmy
- Mohammed Ghori
- Moiz S Bootwalla
- Monika Szczepanowski
- Monique Albert
- Montserrat Puiggròs
- Montserrat Puiggròs
- Morgan L Taschuk
- Moritz Gerstung
- Morten Muhlig Nielsen
- Morten Muhlig Nielsen
- Murat Iskar
- Myron Peto
- Myron Peto
- Nadia Traficante
- Nagarajan Paramasivam
- Nagarajan Paramasivam
- Naoki Miyoshi
- Naomi Livni
- Naoto T Ueno
- Narong Khuntikeo
- Nasa Sinnott-Armstrong
- Nasra H Giama
- Natalie Jäger
- Natalie Jäger
- Natalie R Davidson
- Natalie S Fox
- Natalie Saini
- Nathan A Pennell
- Natsuko Hama
- Naveen Vasudev
- Nebojsa Tijanic
- Neesha C Dhani
- Neil D Merrett
- Neil E Fleshner
- Nening M Dennis
- Niall J Byrne
- Nic Jones
- Nicholas D Socci
- Nicholas J Haradhvala
- Nicholas K Hayward
- Nicholas Petrelli
- Nicholas van As
- Nick M Waddell
- Nicola D Roberts
- Nicola Grehan
- Nicola Sperandio
- Nicola Waddell
- Nicole Cloonan
- Nidhan K Biswas
- Niedzica Camacho
- Nigel B Jamieson
- Nikita Desai
- Nikolajs Zeps
- Nikolaus Schultz
- Nikos Sidiropoulos
- Nilanjan Chatterjee
- Nilgun Donmez
- Nils Gehlenborg
- Nimish C Shah
- Nina Habermann
- Nina Thiessen
- Nischalan Pillay
- Nishant Agrawal
- Nobuyoshi Hiraoka
- Nodirjon Fayzullaev
- Noreen Dhalla
- Nuno A Fonseca
- Ofer Shapira
- Ola Myklebost
- Ole Ammerpohl
- Ole Christian Lingjærde
- Olga Potapova
- Olga Tucker
- Olga Zaikova
- Oliver Drechsel
- Oliver Drechsel
- Oliver F Bathe
- Oliver Hofmann
- Oliver Holmes
- Oliver Spiro
- Oliver Stegle
- Olivier Delaneau
- Olivier Harismendy
- Oriol Pich
- P Andrew Futreal
- Pablo Landgraf
- Paolo Pederzoli
- Pardeep Kumar
- Paresh Vyas
- Partha P Majumder
- Patrick D McGillivray
- Patrick Tan
- Patrick Tarpey
- Paul A Edwards
- Paul A Northcott
- Paul Brennan
- Paul C Boutros
- Paul C Boutros
- Paul Flicek
- Paul M Waring
- Paul N Span
- Paul T Spellman
- Paul Weinberger
- Pavana Anur
- Pavana Anur
- Payal Sipahimalani
- Paz Polak
- Pei Lin
- Pelvender Gill
- Petar Radovic
- Peter A Johansson
- Peter Clapham
- Peter F Stadler
- Peter Hersey
- Peter J Bailey
- Peter J Campbell
- Peter J Park
- Peter Lichter
- Peter Möller
- Peter O'Donnell
- Peter Staib
- Peter T Simpson
- Peter Van Loo
- Peter Vermeulen
- Peter W Laird
- Philip Awadalla
- Philip C Rosenstiel
- Phillip H Lai
- Ping Shang
- Piotr A Mieczkowski
- Prashant Bavi
- Pratiti Bandopadhayay
- Priyanka Dhingra
- Prue A Cowin
- Qi Wang
- Qian Xiang
- Qiang Pan-Hammarström
- Qianyun Guo
- Qinying Xu
- Quaid D Morris
- R Houston Thompson
- R Jay Mashl
- R Jay Mashl
- Rabea Wagener
- Radhakrishnan Sabarinathan
- Raja Seethala
- Rajiv Dhir
- Rajiv Sarin
- Ralf Küppers
- Ralph H Hruban
- Ralph Scully
- Ramaswamy Govindan
- Rameen Beroukhim
- Randi Istrup Juul
- Raquel Rabionet
- Raunak Shrestha
- Ravikiran Vedururu
- Reanne Bowlby
- Rebecca A Dagg
- Rebecca C Fitzgerald
- Rebecca Carlsen
- Rebecca Shepherd
- Rehan Akbani
- Reiner Siebert
- Ren X Sun
- Reyka Jayasinghe
- Ricardo De Paoli-Iseppi
- Ricardo E Vilain
- Rich Boyce
- Richard A Gibbs
- Richard A Moore
- Richard A Scolyer
- Richard F Kefford
- Richard K Wilson
- Richard Sallari
- Richard Turkington
- Rita T Lawlor
- Ritika Kundra
- Robert A Holt
- Robert C Grant
- Robert Cerfolio
- Robert E Denroche
- Robert G Bristow
- Robert L Grossman
- Robert Petryszak
- Robert S Fulton
- Robert S Fulton
- Roberto Salgado
- Roberto Salvia
- Roberto Tirabosco
- Robyn P M Saw
- Roelof Koster
- Roland Eils
- Roland Eils
- Roland F Schwarz
- Rolf Kabbe
- Romina Royo
- Romina Royo
- Ronald Ghossein
- Ronald Simon
- Ronny Drapkin
- Rory Johnson
- Rosa Karlić
- Rosalind A Eeles
- Rosamonde E Banks
- Roy Tarnuzzer
- Ruben M Drews
- Rui Xing
- Rui Yamaguchi
- Ruian Shi
- Russell R Broaddus
- S Cenk Sahinalp
- S Cenk Sahinalp
- S M Ashiqul Islam
- Sabina Signoretti
- Sagedeh Shahabi
- Saianand Balu
- Saksena Gordon
- Salem Malikic
- Salvatore Paiella
- Sam Behjati
- Samantha Bersani
- Samantha J Caesar-Johnson
- Samirkumar B Amin
- Samuel Aparicio
- Samuel R Meier
- Samuel Singer
- Sancha Martin
- Sandra E Edwards
- Sandrine Boyault
- Sandro Morganella
- Sangeetha Kalimuthu
- Sanja Mijalkovic
- Santiago Gonzalez
- Santiago Gonzalez
- Sara Cingarlini
- Sara Sadeghi
- Sarah Minner
- Sarah O'Meara
- Sarah P Thayer
- Sarah Pinder
- Sarah Thomas
- Sarah-Jane Schramm
- Satoru Miyano
- Satoshi Hirano
- Savitri Krishnamurthy
- Scott Frazer
- Scott Wood
- Se Jin Jang
- Sean Cleary
- Sean M Grimmond
- Sebastian M Waszak
- Sebastian M Waszak
- Seiya Imoto
- Seong Gu Heo
- Serap Erkek
- Serena Nik-Zainal
- Serge Serge
- Sergei Yakneen
- Sergei Yakneen
- Sergi Beltran
- Sergio Pulido-Tamayo
- Seung Jun Shin
- Seung-Hyup Jeon
- Shadrielle M G Espiritu
- Shadrielle M G Espiritu
- Shailja Gupta
- Shankar Vembu
- Shanlin Yang
- Shantao Li
- Shaoke Lou
- Shaolong Cao
- Shaowu Meng
- Sharmila Sothi
- Shaun R Preston
- Sheila M Reynolds
- Sheila M Reynolds
- Sheng-Ben Liang
- Shengjie Gao
- Shengjie Gao
- Shida Zhu
- Shimin Shuai
- Shinichi Mizuno
- Shinichi Yachida
- Shinya Hayami
- Shogo Yamamoto
- Shona MacRae
- Shriram G Bhosle
- Shuai Ding
- Shumpei Ishikawa
- Shun-Ichi Ariizumi
- Shuto Hayashi
- Sian Fereday
- Siegfried Haas
- Sietse Aukema
- Siliang Li
- Simon C Heath
- Simon L Parsons
- Simon Mayes
- Simon Tavaré
- Simpson Jared T
- Singer Ma
- Sinisa Ivkovic
- Sissel Juul
- Solomon I Shorser
- Sonia Grimaldi
- Sonia Puig
- Stacey B Gabriel
- Stefan C Dentro
- Stefan G Stark
- Stefan M Pfister
- Stefan Schreiber
- Stefania Tommasi
- Stefano Barbi
- Stefano Serra
- Stephan H Bernhart
- Stephan Ossowski
- Stephan Ossowski
- Stephan Stilgenbauer
- Stephan Wolf
- Stephanie Sungalee
- Stephen B Baylin
- Stephen H Kazakoff
- Stephen J Chanock
- Stephen J Hayes
- Stephen M Cordner
- Stephenie D Prokopec
- Steve Hawkins
- Steve Hoffmann
- Steven A Roberts
- Steven E Schumacher
- Steven Foltz
- Steven G Rozen
- Steven Gallinger
- Steven Hazell
- Steven J M Jones
- Steven J Newhouse
- Steven Van Laere
- Stian Knappskog
- Stuart Edmonds
- Stuart R Jefferys
- Su Pin Choo
- Subhajit Sengupta
- Sue Merson
- Suet-Feung Chin
- Sultan T Al-Sedairy
- Sung-Min Ahn
- Sung-Soo Yoon
- Sunghoon Cho
- Sunil R Lakhani
- Suresh Ramalingam
- Susan Bullman
- Susanna L Cooke
- Sushant Kumar
- Sushant Kumar
- Suyash S Shringarpure
- Syed Haider
- Sylvia Asa
- Søren Brunak
- Takafumi N Yamaguchi
- Takafumi N Yamaguchi
- Takanori Hasegawa
- Takashi Yugawa
- Takashi Yugawa
- Takuji Okusaka
- Tal Shmaya
- Tannistha Nandi
- Taobo Hu
- Taobo Hu
- Tapio Visakorpi
- Tara J Skelly
- Tari A King
- Tatsuhiko Tsunoda
- Tatsuhiro Shibata
- Ted R Hupp
- Tetsuo Ushiku
- Theodorus Van der Kwast
- Thomas E Carey
- Thomas J Hudson
- Thomas J Matthew
- Thomas J Mitchell
- Thorsten Schlomm
- Thorsten Zenz
- Tian Xia
- Tim Dudderidge
- Tim Ley
- Timothy A Beck
- Timothy Defreitas
- Timothy J C Bruxner
- Timothy J Underwood
- Tina Wong
- Tirso Pons
- Tobias Madsen
- Tobias Rausch
- Todd A Johnson
- Todd D Pihl
- Tom Bodenheimer
- Tom Mikkelsen
- Tom Roques
- Tomas J Tanskanen
- Tomas Marques-Bonet
- Tomoko Urushidate
- Torill Sauer
- Toru Nakamura
- Treasa A McPherson
- Troy Shelton
- Tsun-Po Yang
- Ultan McDermott
- Umadevi Veluvolu
- Umut H Toprak
- Valerie Jakrot
- Varsha Tembe
- Vasilisa A Rudneva
- Venkata D Yellapantula
- Venkata D Yellapantula
- Vera B Kaiser
- Veronica Y Sabelnykova
- Victor Reuter
- Vikram Deshpande
- Viktoriya Korchina
- Ville Mustonen
- Vinayak Bhandari
- Vincent Ferretti
- Vincent Huang
- Vincent Huang
- Vincent J Gnanapragasam
- Vincent Khoo
- Vincenzo Corbo
- Vishal S Chandan
- Volker Hovestadt
- W Kimryn Rathmell
- W M Linehan
- Walker Hale
- Wan Choi
- Wanding Zhou
- Wang Liang-Bo
- Weerasinghe Amila
- Wei Jiao
- Wendl Michael C
- Wenyi Wang
- Wenyi Wang
- Wenyi Wang
- Wheeler David A
- William B Isaacs
- William C Faquin
- William Friedman
- William Howat
- William U Meyerson
- Willie Yu
- Winghing Wong
- Wojciech Bazant
- Wolfgang Huber
- Wolfram Klapper
- Xavier Estivill
- Xavier Pivot
- Xiao Xiao
- Xiaobo Li
- Xiaoping Su
- Xiaotong Li
- Xiaotong Yao
- Xing Hua
- Xingmin Liu
- Xinyue Li
- Xiuqing Zhang
- Xiuqing Zheng
- Xose S Puente
- Xuan Le
- Xuanping Zhang
- Xuemei Luo
- Xueqing Zou
- Yan Shi
- Yan Zhang
- Yang Wu
- Yang Yang
- Yann Joly
- Yanxun Xu
- Yao He
- Yasin Senbabaoglu
- Yassen Assenov
- Yasser Riazalhosseini
- Yasuhito Arai
- Yasushi Rino
- Yasushi Totoki
- Yeng Ang
- Yi Huang
- Yi Huang
- Yifei Men
- Yiling Lu
- Yilong Li
- Yingyan Yu
- Yiwen Chen
- Yogesh Kumar
- Yogesh Kumar
- Yoke-Eng Chiew
- Yong Hou
- Yong Zhou
- Yong-Jie Lu
- Yongzhan Nie
- Yosef E Maruvka
- Yosef E Maruvka
- Yoshiiku Kawakami
- Young Seok Ju
- Youngchoon Woo
- Youngil Koh
- Youngwook Kim
- Youyong Lu
- Yu Fan
- Yu Fan
- Yu Fan
- Yu-Jia Shiah
- Yuan Ji
- Yuan Yuan
- Yuichi Shiraishi
- Yulia Newton
- Yulia Rubanova
- Yumeng Wang
- Yupeng Cun
- Yussanne Ma
- Zachary Heins
- Zechen Chong
- Zechen Chong
- Zemin Zhang
- Zhaohong Chen
- Zhenggang Wu
- Zhenggang Wu
- Zhining Wang
- Zhongming Zhao
- Ziao Lin
- Zsofia Kote-Jarai
- Ólafur Andri Stefánsson
- Øystein Garred
- Publication venue
- Nature Communications
- Publication date
- 01/01/2020
- Field of study
Funder: NCI U24CA211006Abstract: The Cancer Genome Atlas (TCGA) and International Cancer Genome Consortium (ICGC) curated consensus somatic mutation calls using whole exome sequencing (WES) and whole genome sequencing (WGS), respectively. Here, as part of the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium, which aggregated whole genome sequencing data from 2,658 cancers across 38 tumour types, we compare WES and WGS side-by-side from 746 TCGA samples, finding that ~80% of mutations overlap in covered exonic regions. We estimate that low variant allele fraction (VAF < 15%) and clonal heterogeneity contribute up to 68% of private WGS mutations and 71% of private WES mutations. We observe that ~30% of private WGS mutations trace to mutations identified by a single variant caller in WES consensus efforts. WGS captures both ~50% more variation in exonic regions and un-observed mutations in loci with variable GC-content. Together, our analysis highlights technological divergences between two reproducible somatic variant detection efforts
De novo development of gliomas in a child with neurofibromatosis type 1, fragile X and previously normal brain magnetic resonance imaging
- Author
- Publication venue
- Elsevier
- Publication date
- Field of study
Fifteen to 20% of children with neurofibromatosis type 1 develop low-grade glial neoplasms. However, since neuroimaging is not routinely obtained until a child is clinically symptomatic, little is known about presymptomatic radiographic characteristics of gliomas in this at-risk population. Herein, we describe a child with neurofibromatosis type 1 who initially had normal brain imaging before the development of multifocal gliomas. Comparison of these serial images demonstrated that brain tumors can arise de novo in children with this cancer predisposition syndrome, further underscoring the limited prognostic value of normal baseline magnetic resonance imaging
De novo development of gliomas in a child with neurofibromatosis type 1, fragile X and previously normal brain magnetic resonance imaging
- Author
- Publication venue
- 'Elsevier BV'
- Publication date
- Field of study
Sex differences in oncogenic mutational processes
- Author
- A Gordon Robertson
- Abdullah Kahraman
- Abel Gonzalez-Perez
- Adam A Margolin
- Adam Abeshouse
- Adam Grundhoff
- Adam J Struck
- Adam J Wright
- Adam Lambert
- Adam Margolin
- Adam P Butler
- Adel El-Naggar
- Adnan M Nagrial
- Adrian Ally
- Adrian Baez-Ortega
- Adrian Thorogood
- Adriana Salcedo
- Adrienne M Flanagan
- Ake Borg
- Akihiro Fujimoto
- Akihiro Suzuki
- Akinyemi I Ojesina
- Alain Viari
- Alan J Robertson
- Alan P Hoyle
- Alan Thompson
- Alasdair Stenhouse
- Alastair M Thompson
- Aldo Scarpa
- Alessandro Pastore
- Alex Buchanan
- Alexander Claviez
- Alexander J Lazar
- Alexander J Lazar
- Alexander Martinez-Fundichely
- Alfonso Muñoz
- Alfonso Valencia
- Aliaksei Z Holik
- Alice Meng
- Alicia L Bruzos
- Allison P Heath
- Alvin Wei Tian Ng
- Alvis Brazma
- Amaro Taylor-Weiner
- Amber L Johns
- Amit G Deshwar
- Ana Dueso-Barroso
- Ana Mijalkovic Mijalkovic-Lazic
- Ana Milovanovic
- Andre Kahles
- Andrea Haake
- Andrea Holbrook
- Andrea L Richardson
- Andrea Mafficini
- Andrea Ruzzenente
- Andreas Behren
- Andreas Rosenwald
- Andreia V Pinho
- Andrew Berchuck
- Andrew D Cherniack
- Andrew J Dunford
- Andrew J Mungall
- Andrew J Spillane
- Andrew Menzies
- Andrew P Barbour
- Andrew Tutt
- Andrew V Biankin
- Andrew V Biankin
- Andrey Korshunov
- Andrés Lanzós
- Andy Cafferkey
- Andy G Lynch
- Angela Chou
- Angela N Brooks
- Angela Tam
- Angelica Ochoa
- Angelika N Christ
- Angelo P Dei Tos
- Anieta M Sieuwerts
- Anil K Sood
- Anita Langerød
- Anja Füllgrabe
- Anke K Bergmann
- Ann-Marie Patch
- Anna deFazio
- Anna Ehinger
- Anna Fitzgerald
- Anne Hamilton
- Anne Vincent-Salomon
- Anne Y Warren
- Anne-Lise Børresen-Dale
- Annegien Broeks
- Anthony DiBiase
- Anthony J Gill
- Anthony Ng
- Anthony R Green
- Antonia L Pritchard
- Antonio Pea
- Antonios Koures
- Aparna Prasad
- Apurva M Hegde
- Aquila Fatima
- Arcadi Navarro
- Arie B Brinkman
- Arif O Harmanci
- Arindam Maitra
- Armando Lopez-Guillermo
- Arndt Borkhardt
- Arnoud Boot
- Asger Hobolth
- Ashley Williams
- Ashton A Connor
- Atul J Butte
- Aurélien Chateigner
- Austin J Hepperla
- Axel Aretz
- Aya Sasaki-Oku
- Ayellet V Segre
- B F Francis Ouellette
- Barbara Hutter
- Barbara Kremeyer
- Bartha M Knoppers
- Beifang Niu
- Benedikt Brors
- Benita Kiat Tee Tan
- Benjamin J Raphael
- Benjamin P Berman
- Benjamin Raeder
- Bernardo Rodriguez-Martin
- Bernhard Radlwimmer
- Bernice H Wong
- Beth Karlan
- Bin Tean Teh
- Bin Zhu
- Birgit Burkhardt
- Bishoy M Faltas
- Bishoy M Faltas
- Bodil Bjerkehagen
- Bogdan Czerniak
- Boris Winterhoff
- Borislav C Rusev
- Boutros
- Bradly G Wouters
- Brandi N Davis-Dusenbery
- Brian Craft
- Brian D O'Connor
- Brian Patrick O'Neill
- Brice Aminou
- Calvin Wing Yiu Chan
- Cameron M Soulette
- Carl Herrmann
- Carl Morrison
- Carlo Gambacorti-Passerini
- Carlos Caldas
- Carlos D Bustamante
- Carlos López-Otín
- Carlota Rubio-Perez
- Carmen Gomez
- Carolien H M van Deurzen
- Carolyn M Hutter
- Carrie Cibulskis
- Caterina Vicentini
- Catherine A Shang
- Catherine D Moser
- Catherine J Kennedy
- Catrina C Fronick
- Chad J Creighton
- Chandra Sekhar Pedamallu
- Chang Li
- Charles David Imbusch
- Charles M Perou
- Charles Saller
- Charles Short
- Charlie E Massie
- Chawalit Pairojkul
- Chen Hong
- Chen Ye
- Cheng-Zhong Zhang
- Chin-Lee Wu
- Chin-Lee Wu
- Chip Stewart
- Chovon Kiat Ong
- Chris Lawerenz
- Chris Mitchell
- Chris Sander
- Christian von Mering
- Christiane Buchholz
- Christina K Yung
- Christina Yau
- Christine A Iacobuzio-Donahue
- Christine Chomienne
- Christine Desmedt
- Christine P'ng
- Christine P'ng
- Christof von Kalle
- Christoph Borst
- Christoph Plass
- Christopher A Miller
- Christopher Benz
- Christopher J Scarlett
- Christopher J Yoon
- Christopher M Lalansingh
- Christopher Ogden
- Christopher S Foster
- Christopher Umbricht
- Christopher W Toon
- Christos Sotiriou
- Cindy Bell
- Cinzia Cantù
- Ciyue Shen
- Claes Wadelius
- Clare Verrill
- Clarissa Gerhauser
- Claudia Calabrese
- Claudio Bassi
- Claudio Luchini
- Claudiu Farcas
- Clemency Jolly
- Colin A Purdie
- Colin A Semple
- Colin A Semple
- Colin C Collins
- Colin S Cooper
- Conrad R Leonard
- Constance H Li
- Constance H Li
- Corbin D Jones
- Craig Shriver
- Cristina López
- Cyril Fisher
- D Neil Hayes
- Dai-Ying Wu
- Daiming Fan
- Daisuke Komura
- Dale W Garsed
- Daniel A Leongamornlert
- Daniel Baumhoer
- Daniel Hübschmann
- Daniel J Turner
- Daniel J Weisenberger
- Daniel M Berney
- Daniel Rosebrock
- Daniel S Brewer
- Daniela S Gerhard
- Danielle Pasternack
- Darell Bigner
- Dariush Etemadmoghadam
- Darlene Lee
- Darrin F Taylor
- David A Wheeler
- David C Wedge
- David Craft
- David D L Bowtell
- David E Neal
- David Haan
- David Haussler
- David Hedley
- David Huntsman
- David I Heiman
- David J Adams
- David J Van Den Berg
- David K Chang
- David K Chang
- David K Miller
- David Khoo
- David Mutch
- David N Louis
- David N Louis
- David Nicol
- David Ocana
- David R Jones
- David Scott
- David T Bowen
- David T W Jones
- David Tamborero
- David Torrents
- David Townend
- David Vicente
- Davide Antonello
- Declan Cahill
- Denis Larsimont
- Denis Yuen
- Denise Brooks
- Deniz Demircioğlu
- Dennis C Sgroi
- Dennis C Sgroi
- Dennis Karsch
- Dennis T Maglinte
- Dennis Wigle
- Derek W Wright
- Derek W Wright
- Dianne E Chadwick
- Dido Lenze
- Dieter Kube
- Dieter Weichenhan
- Dilip D Giri
- Dimitri Livitz
- Dimple Chakravarty
- Dirk Schadendorf
- Dmitry A Gordenin
- Dominik Glodzik
- Don Chalmers
- Dongbing Liu
- Donghoon Lee
- Donghui Tan
- Donna M Muzny
- Dorthe Grabau
- Douglas A Levine
- Douglas F Easton
- Douglas Voet
- Duncan Beardsmore
- Edward W Rowe
- Eigo Shimizu
- Ekta Khurana
- Elaine R Mardis
- Electron Kebebew
- Elena Piñeiro-Yáñez
- Elena Provenzano
- Elias Campo
- Elisabet Barrera
- Elisabetta Sereni
- Elizabeth A Musgrove
- Elizabeth L Appelbaum
- Elizabeth L Christie
- Elli Papaemmanuil
- Emilie Lalonde
- Eoghan Harrington
- Eric Chuah
- Eric Green
- Eric Lander
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- Eric Z Ma
- Erik Garrison
- Erik Larsson
- Erik Mayer
- Erik N Bergstrom
- Erin Curley
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- Esa Pitkänen
- Esther Rheinbay
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- Eva G Alvarez
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- F Germán Rodríguez-González
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- Fan Yang
- Fan Zhang
- Faraz Hach
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- Fatima Al-Shahrour
- Federico Abascal
- Fei-Fei Liu
- Felicity Newell
- Fenglin Liu
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- Ferran Muiños
- Florian Markowetz
- Francesc Muyas
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- Francisco Sanchez-Vega
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- Fred Sweep
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- G Petur Nielsen
- G Petur Nielsen
- G Steven Bova
- Gad Getz
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- Gilles Romieu
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- Gisela Mir Arnau
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- Gu Kong
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- Guido Reifenberger
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- Gurnit Atwal
- Gurnit Atwal
- Hailei Zhang
- Haiyan Irene Li
- Han Liang
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- Hardeep K Nahal-Bose
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- HarshaVardhan Doddapaneni
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- Heng Xiong
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- Hidenori Ojima
- Hidewaki Nakagawa
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- Hirofumi Rokutan
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- Martin Hansmann
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- Mayuko Furuta
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- Mia Nastic
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- Michael Koscher
- Michael Mayo
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- Michael S Lawrence
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- Michele Milella
- Michele Simbolo
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- Ming Tsao
- Miranda D Stobbe
- Miranda D Stobbe
- Miriam R Aure
- Miruna Balasundaram
- Mitsuhiro Komura
- Mohamed Helmy
- Mohammed Ghori
- Moiz S Bootwalla
- Monika Szczepanowski
- Monique Albert
- Montserrat Puiggròs
- Morgan L Taschuk
- Moritz Gerstung
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- Nadia Traficante
- Nagarajan Paramasivam
- Naoki Miyoshi
- Naomi Livni
- Naoto T Ueno
- Narong Khuntikeo
- Nasa Sinnott-Armstrong
- Nasra H Giama
- Natalie Jäger
- Natalie R Davidson
- Natalie S Fox
- Natalie Saini
- Nathan A Pennell
- Natsuko Hama
- Naveen Vasudev
- Nebojsa Tijanic
- Neesha C Dhani
- Neil D Merrett
- Neil E Fleshner
- Nening M Dennis
- Niall J Byrne
- Nic Jones
- Nicholas D Socci
- Nicholas J Haradhvala
- Nicholas K Hayward
- Nicholas Petrelli
- Nicholas van As
- Nick M Waddell
- Nicola D Roberts
- Nicola Grehan
- Nicola Sperandio
- Nicola Waddell
- Nicole Cloonan
- Nidhan K Biswas
- Niedzica Camacho
- Nigel B Jamieson
- Nikita Desai
- Nikolajs Zeps
- Nikolaus Schultz
- Nikos Sidiropoulos
- Nilanjan Chatterjee
- Nilgun Donmez
- Nils Gehlenborg
- Nimish C Shah
- Nina Habermann
- Nina Thiessen
- Nischalan Pillay
- Nishant Agrawal
- Nobuyoshi Hiraoka
- Nodirjon Fayzullaev
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- Nuno A Fonseca
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- Ole Ammerpohl
- Ole Christian Lingjærde
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- Olga Tucker
- Olga Zaikova
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- Oliver F Bathe
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- Oliver Holmes
- Oliver Spiro
- Oliver Stegle
- Olivier Delaneau
- Olivier Harismendy
- Oriol Pich
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- Pablo Landgraf
- Paolo Pederzoli
- Pardeep Kumar
- Paresh Vyas
- Partha P Majumder
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- Patrick Tan
- Patrick Tarpey
- Paul A Edwards
- Paul A Northcott
- Paul Brennan
- Paul C Boutros
- Paul C Boutros
- Paul C Fatima Al-Shahrour
- Paul Flicek
- Paul M Waring
- Paul N Span
- Paul T Spellman
- Paul Weinberger
- Pavana Anur
- Payal Sipahimalani
- Paz Polak
- Paz Polak
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- Petar Radovic
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- Peter Clapham
- Peter F Stadler
- Peter Hersey
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- Peter J Bailey
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- Peter Lichter
- Peter Möller
- Peter O'Donnell
- Peter Staib
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- Peter Vermeulen
- Peter W Laird
- Philip Awadalla
- Philip C Rosenstiel
- Phillip H Lai
- Ping Shang
- Piotr A Mieczkowski
- Prashant Bavi
- Pratiti Bandopadhayay
- Priyanka Dhingra
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- Qiang Pan-Hammarström
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- Rabea Wagener
- Radhakrishnan Sabarinathan
- Raja Seethala
- Rajiv Dhir
- Rajiv Sarin
- Ralf Küppers
- Ralph H Hruban
- Ralph Scully
- Ramaswamy Govindan
- Rameen Beroukhim
- Randi Istrup Juul
- Raquel Rabionet
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- Ravikiran Vedururu
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- Ricardo E Vilain
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- Richard A Scolyer
- Richard F Kefford
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- Sangeetha Kalimuthu
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- Sara Sadeghi
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- Sarah O'Meara
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- Sarah-Jane Schramm
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- Shona MacRae
- Shriram G Bhosle
- Shuai Ding
- Shumpei Ishikawa
- Shun-Ichi Ariizumi
- Shuto Hayashi
- Sian Fereday
- Siegfried Haas
- Sietse Aukema
- Siliang Li
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- Simon Mayes
- Simon Tavaré
- Sinisa Ivkovic
- Sissel Juul
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- Sonia Grimaldi
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- Stefania Tommasi
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- Stephan Wolf
- Stephanie Sungalee
- Stephen B Baylin
- Stephen H Kazakoff
- Stephen J Chanock
- Stephen J Hayes
- Stephen M Cordner
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- Steve Hoffmann
- Steven A Roberts
- Steven E Schumacher
- Steven G Rozen
- Steven Gallinger
- Steven Hazell
- Steven J M Jones
- Steven J Newhouse
- Steven Van Laere
- Stian Knappskog
- Stuart Edmonds
- Stuart R Jefferys
- Su Pin Choo
- Subhajit Sengupta
- Sue Merson
- Suet-Feung Chin
- Sultan T Al-Sedairy
- Sun Ren X
- Sung-Min Ahn
- Sung-Soo Yoon
- Sunghoon Cho
- Sunil R Lakhani
- Suresh Ramalingam
- Susan Bullman
- Susanna L Cooke
- Susanna L Cooke
- Sushant Kumar
- Suyash S Shringarpure
- Syed Haider
- Syed Haider
- Sylvia Asa
- Søren Brunak
- Takafumi N Yamaguchi
- Takanori Hasegawa
- Takashi Yugawa
- Takashi Yugawa
- Takuji Okusaka
- Tal Shmaya
- Tannistha Nandi
- Taobo Hu
- Tapio Visakorpi
- Tara J Skelly
- Tari A King
- Tatsuhiko Tsunoda
- Tatsuhiro Shibata
- Tatsuhiro Shibata
- Ted R Hupp
- Tetsuo Ushiku
- Theodorus Van der Kwast
- Thomas E Carey
- Thomas J Hudson
- Thomas J Matthew
- Thomas J Mitchell
- Thorsten Schlomm
- Thorsten Zenz
- Tian Xia
- Tim Dudderidge
- Tim Ley
- Timothy A Beck
- Timothy Defreitas
- Timothy J C Bruxner
- Timothy J Underwood
- Tina Wong
- Tirso Pons
- Tobias Madsen
- Tobias Rausch
- Todd A Johnson
- Todd D Pihl
- Tom Bodenheimer
- Tom Mikkelsen
- Tom Roques
- Tomas J Tanskanen
- Tomas Marques-Bonet
- Tomoko Urushidate
- Torill Sauer
- Toru Nakamura
- Treasa A McPherson
- Troy Shelton
- Tsun-Po Yang
- Ultan McDermott
- Umadevi Veluvolu
- Umut H Toprak
- Valerie Jakrot
- Varsha Tembe
- Vasilisa A Rudneva
- Venkata D Yellapantula
- Vera B Kaiser
- Vera B Kaiser
- Veronica Y Sabelnykova
- Victor Reuter
- Vikram Deshpande
- Vikram Deshpande
- Viktoriya Korchina
- Ville Mustonen
- Vinayak Bhandari
- Vincent Ferretti
- Vincent Huang
- Vincent J Gnanapragasam
- Vincent Khoo
- Vincenzo Corbo
- Vishal S Chandan
- Volker Hovestadt
- W Kimryn Rathmell
- W M Linehan
- Wan Choi
- Wanding Zhou
- Wei Jiao
- Wei Jiao
- Wenyi Wang
- William B Isaacs
- William C Faquin
- William C Faquin
- William Friedman
- William Howat
- William Meyerson
- Willie Yu
- Winghing Wong
- Wojciech Bazant
- Wolfgang Huber
- Wolfram Klapper
- Xavier Estivill
- Xavier Pivot
- Xiao Xiao
- Xiaobo Li
- Xiaoping Su
- Xiaotong Li
- Xiaotong Yao
- Xing Hua
- Xingmin Liu
- Xinyue Li
- Xiuqing Zhang
- Xiuqing Zheng
- Xose S Puente
- Xuan Le
- Xuanping Zhang
- Xuemei Luo
- Xueqing Zou
- Yan Shi
- Yan Zhang
- Yang Wu
- Yang Yang
- Yann Joly
- Yanxun Xu
- Yao He
- Yasin Senbabaoglu
- Yassen Assenov
- Yasser Riazalhosseini
- Yasuhito Arai
- Yasushi Rino
- Yasushi Totoki
- Yeng Ang
- Yi Huang
- Yiling Lu
- Yilong Li
- Yingyan Yu
- Yiwen Chen
- Yogesh Kumar
- Yoke-Eng Chiew
- Yong Hou
- Yong Zhou
- Yong-Jie Lu
- Yongzhan Nie
- Yosef E Maruvka
- Yoshiiku Kawakami
- Young Seok Ju
- Youngchoon Woo
- Youngil Koh
- Youngwook Kim
- Yousif Fouad
- Youyong Lu
- Yu Fan
- Yu-Jia Shiah
- Yuan Ji
- Yuan Yuan
- Yuichi Shiraishi
- Yulia Newton
- Yulia Rubanova
- Yumeng Wang
- Yupeng Cun
- Yussanne Ma
- Zachary Heins
- Zechen Chong
- Zemin Zhang
- Zhaohong Chen
- Zhenggang Wu
- Zhining Wang
- Zhongming Zhao
- Ziao Lin
- Zsofia Kote-Jarai
- Ólafur Andri Stefánsson
- Øystein Garred
- Publication venue
- Publication date
- 01/01/2020
- Field of study
Sex differences have been observed in multiple facets of cancer epidemiology, treatment and biology, and in most cancers outside the sex organs. Efforts to link these clinical differences to specific molecular features have focused on somatic mutations within the coding regions of the genome. Here we report a pan-cancer analysis of sex differences in whole genomes of 1983 tumours of 28 subtypes as part of the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium. We both confirm the results of exome studies, and also uncover previously undescribed sex differences. These include sex-biases in coding and non-coding cancer drivers, mutation prevalence and strikingly, in mutational signatures related to underlying mutational processes. These results underline the pervasiveness of molecular sex differences and strengthen the call for increased consideration of sex in molecular cancer research.Sex differences have been observed in multiple facets of cancer epidemiology, treatment and biology, and in most cancers outside the sex organs. Efforts to link these clinical differences to specific molecular features have focused on somatic mutations within the coding regions of the genome. Here we report a pan-cancer analysis of sex differences in whole genomes of 1983 tumours of 28 subtypes as part of the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium. We both confirm the results of exome studies, and also uncover previously undescribed sex differences. These include sex-biases in coding and non-coding cancer drivers, mutation prevalence and strikingly, in mutational signatures related to underlying mutational processes. These results underline the pervasiveness of molecular sex differences and strengthen the call for increased consideration of sex in molecular cancer research.Peer reviewe
Retrospective evaluation of whole exome and genome mutation calls in 746 cancer samples
- Author
- A Gordon Robertson
- Abdullah Kahraman
- Abel Gonzalez-Perez
- Adam A Margolin
- Adam Abeshouse
- Adam Grundhoff
- Adam J Struck
- Adam J Struck
- Adam J Wright
- Adam Lambert
- Adam P Butler
- Adam P Butler
- Adel El-Naggar
- Adnan M Nagrial
- Adrian Ally
- Adrian Baez-Ortega
- Adrian Thorogood
- Adriana Salcedo
- Adrienne M Flanagan
- Ake Borg
- Akihiro Fujimoto
- Akihiro Suzuki
- Akinyemi I Ojesina
- Alain Viari
- Alan J Robertson
- Alan P Hoyle
- Alan Thompson
- Alasdair Stenhouse
- Alastair M Thompson
- Aldo Scarpa
- Alessandro Pastore
- Alex Buchanan
- Alex Buchanan
- Alexander Claviez
- Alexander J Lazar
- Alexander Martinez-Fundichely
- Alfonso Muñoz
- Alfonso Valencia
- Aliaksei Z Holik
- Alice Meng
- Alicia L Bruzos
- Allison Creason
- Allison P Heath
- Alvin Wei Tian Ng
- Alvis Brazma
- Amaro Taylor-Weiner
- Amber L Johns
- Amie Radenbaugh
- Amit G Deshwar
- Ana Dueso-Barroso
- Ana Mijalkovic Mijalkovic-Lazic
- Ana Milovanovic
- Ana Milovanovic
- Andre Kahles
- Andrea Haake
- Andrea Holbrook
- Andrea L Richardson
- Andrea Mafficini
- Andrea Ruzzenente
- Andreas Behren
- Andreas Rosenwald
- Andreia V Pinho
- Andrew Berchuck
- Andrew D Cherniack
- Andrew J Dunford
- Andrew J Mungall
- Andrew J Spillane
- Andrew Menzies
- Andrew Menzies
- Andrew P Barbour
- Andrew Tutt
- Andrew V Biankin
- Andrey Korshunov
- Andrés Lanzós
- Andy Cafferkey
- Andy G Lynch
- Angela Chou
- Angela N Brooks
- Angela Tam
- Angelica Ochoa
- Angelika N Christ
- Angelo P Dei Tos
- Anieta M Sieuwerts
- Anil K Sood
- Anita Langerød
- Anja Füllgrabe
- Anke K Bergmann
- Ann-Marie Patch
- Anna deFazio
- Anna Ehinger
- Anna Fitzgerald
- Anne Hamilton
- Anne Vincent-Salomon
- Anne Y Warren
- Anne-Lise Børresen-Dale
- Annegien Broeks
- Anthony DiBiase
- Anthony J Gill
- Anthony Ng
- Anthony R Green
- Antonia L Pritchard
- Antonio Pea
- Antonios Koures
- Aparna Prasad
- Apurva M Hegde
- Aquila Fatima
- Arcadi Navarro
- Arie B Brinkman
- Arif O Harmanci
- Arindam Maitra
- Armando Lopez-Guillermo
- Arndt Borkhardt
- Arnoud Boot
- Asger Hobolth
- Ashley Williams
- Ashton A Connor
- Atul J Butte
- Aurélien Chateigner
- Austin J Hepperla
- Axel Aretz
- Aya Sasaki-Oku
- Ayellet V Segre
- B F Francis Ouellette
- Bailey Matthew H
- Barbara Hutter
- Barbara Hutter
- Barbara Kremeyer
- Bartha M Knoppers
- Beifang Niu
- Beifang Niu
- Beifang Niu
- Benedikt Brors
- Benita Kiat Tee Tan
- Benjamin J Raphael
- Benjamin P Berman
- Benjamin Raeder
- Bernardo Rodriguez-Martin
- Bernhard Radlwimmer
- Bernice H Wong
- Beth Karlan
- Bin Tean Teh
- Bin Zhu
- Birgit Burkhardt
- Bishoy M Faltas
- Bodil Bjerkehagen
- Bogdan Czerniak
- Boris Winterhoff
- Borislav C Rusev
- Bradly G Wouters
- Brandi N Davis-Dusenbery
- Brian Craft
- Brian D O'Connor
- Brian Patrick O'Neill
- Brice Aminou
- Calvin Wing Yiu Chan
- Cameron M Soulette
- Carl Herrmann
- Carl Morrison
- Carlo Gambacorti-Passerini
- Carlos Caldas
- Carlos D Bustamante
- Carlos López-Otín
- Carlota Rubio-Perez
- Carmen Gomez
- Carolien H M van Deurzen
- Carolyn M Hutter
- Carolyn M Hutter
- Carrie Cibulskis
- Caterina Vicentini
- Catherine A Shang
- Catherine D Moser
- Catherine J Kennedy
- Catrina C Fronick
- Chad J Creighton
- Chandra Sekhar Pedamallu
- Chang Li
- Charles David Imbusch
- Charles M Perou
- Charles Saller
- Charles Short
- Charlie E Massie
- Chawalit Pairojkul
- Chen Hong
- Chen Ye
- Cheng-Zhong Zhang
- Chin-Lee Wu
- Chip Stewart
- Chip Stewart
- Chip Stewart
- Choon Kiat Ong
- Chris Lawerenz
- Chris Mitchell
- Chris Sander
- Christian von Mering
- Christiane Buchholz
- Christina K Yung
- Christina K Yung
- Christina Yau
- Christine A Iacobuzio-Donahue
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- Christoph Borst
- Christoph Plass
- Christopher A Miller
- Christopher Benz
- Christopher J Scarlett
- Christopher J Yoon
- Christopher K Wong
- Christopher M Lalansingh
- Christopher M Lalansingh
- Christopher Ogden
- Christopher S Foster
- Christopher Umbricht
- Christopher W Toon
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- Cindy Bell
- Cinzia Cantù
- Ciyue Shen
- Claes Wadelius
- Clare Verrill
- Clarissa Gerhauser
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- Claudio Bassi
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- Claudiu Farcas
- Clemency Jolly
- Colin A Purdie
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- Colin C Collins
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- Conrad R Leonard
- Constance H Li
- Corbin D Jones
- Craig Shriver
- Cristina López
- Cyriac Kandoth
- Cyril Fisher
- D Neil Hayes
- Dai-Ying Wu
- Daiming Fan
- Daisuke Komura
- Dale W Garsed
- Daniel A Leongamornlert
- Daniel Baumhoer
- Daniel Hübschmann
- Daniel J Turner
- Daniel J Weisenberger
- Daniel M Berney
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- Danielle Pasternack
- Darell Bigner
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- Dave Larson
- David A Wheeler
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- Elaine R Mardis
- Electron Kebebew
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- Natalie Jäger
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- Nishant Agrawal
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- Patrick Tan
- Patrick Tarpey
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- Paul A Northcott
- Paul Brennan
- Paul C Boutros
- Paul C Boutros
- Paul Flicek
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- Xuan Le
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- Xuemei Luo
- Xueqing Zou
- Yan Shi
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- Yang Yang
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- Yanxun Xu
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- Yasuhito Arai
- Yasushi Rino
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- Yeng Ang
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- Yi Huang
- Yifei Men
- Yiling Lu
- Yilong Li
- Yingyan Yu
- Yiwen Chen
- Yogesh Kumar
- Yogesh Kumar
- Yoke-Eng Chiew
- Yong Hou
- Yong Zhou
- Yong-Jie Lu
- Yongzhan Nie
- Yosef E Maruvka
- Yosef E Maruvka
- Yoshiiku Kawakami
- Young Seok Ju
- Youngchoon Woo
- Youngil Koh
- Youngwook Kim
- Youyong Lu
- Yu Fan
- Yu Fan
- Yu Fan
- Yu-Jia Shiah
- Yuan Ji
- Yuan Yuan
- Yuichi Shiraishi
- Yulia Newton
- Yulia Rubanova
- Yumeng Wang
- Yupeng Cun
- Yussanne Ma
- Zachary Heins
- Zechen Chong
- Zechen Chong
- Zemin Zhang
- Zhaohong Chen
- Zhenggang Wu
- Zhenggang Wu
- Zhining Wang
- Zhongming Zhao
- Ziao Lin
- Zsofia Kote-Jarai
- Ólafur Andri Stefánsson
- Øystein Garred
- Publication venue
- Publication date
- 01/01/2020
- Field of study
The Cancer Genome Atlas (TCGA) and International Cancer Genome Consortium (ICGC) curated consensus somatic mutation calls using whole exome sequencing (WES) and whole genome sequencing (WGS), respectively. Here, as part of the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium, which aggregated whole genome sequencing data from 2,658 cancers across 38 tumour types, we compare WES and WGS side-by-side from 746 TCGA samples, finding that ~80% of mutations overlap in covered exonic regions. We estimate that low variant allele fraction (VAF < 15%) and clonal heterogeneity contribute up to 68% of private WGS mutations and 71% of private WES mutations. We observe that ~30% of private WGS mutations trace to mutations identified by a single variant caller in WES consensus efforts. WGS captures both ~50% more variation in exonic regions and un-observed mutations in loci with variable GC-content. Together, our analysis highlights technological divergences between two reproducible somatic variant detection efforts.The Cancer Genome Atlas (TCGA) and International Cancer Genome Consortium (ICGC) curated consensus somatic mutation calls using whole exome sequencing (WES) and whole genome sequencing (WGS), respectively. Here, as part of the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium, which aggregated whole genome sequencing data from 2,658 cancers across 38 tumour types, we compare WES and WGS side-by-side from 746 TCGA samples, finding that -80% of mutations overlap in covered exonic regions. We estimate that low variant allele fraction (VAFPeer reviewe