25 research outputs found
Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals
- Author
- Abbott Liam E
- Abou-Khalil Bassel W
- Afawi Zaid
- Ali Quratulain Zulfiqar
- Allen Andrew S
- Amadori Elisa
- Anderson Joe
- Andrade Danielle M
- Annesi Grazia
- Arslan Mutluay
- Auce Pauls
- Baker Mark D
- Balestrini Simona
- Barba Carmen
- Barisic Nina
- Bartolomei Fabrice
- Baum Larry W
- Baumgartner Tobias H
- Baykan Betul
- Bebek Nerses
- Becker Felicitas
- Bennett Caitlin A
- Bennett Caitlin A
- Berkovic Samuel F
- Berkovic Samuel F
- Berkovic Samuel F
- Beydoun Ahmad
- Bianchini Claudia
- Bisulli Francesca
- Blatt Ilan
- Borggrafe Ingo
- Bosselmann Christian
- Braatz Vera
- Brockmann Knut
- Bruenger Tobias
- Buono Russell J
- Busch Robyn M
- Byrnes Andrea E
- Caglayan S Hande
- Canafoglia Laura
- Canavati Christina
- Castellotti Barbara
- Cavalleri Gianpiero L
- Cavalleri Gianpiero L
- Cerrato Felecia
- Chassoux Francine
- Cherny Stacey S
- Chou I-Jun
- Chung Seo-Kyung
- Churchhouse Claire
- Clark Peggy O
- Cole Andrew J
- Collins Ryan L
- Cosico Mahgenn
- Cossette Patrick
- Cossette Patrick
- Cotsapas Chris
- Cusick Caroline
- Davis Lea
- De Jonghe Peter
- De Jonghe Peter
- Delanty Norman
- Dennig Dieter
- Depondt Chantal
- Depondti Chantal
- Derambure Philippe
- Devinsky Orrin
- Dhindsa Ryan S
- Dhindsa Ryan S
- Dixon-Salazar Tracy
- Dlugos Dennis J
- Dlugos Dennis J
- Dlugos Dennis J
- Doccini Viola
- Doherty Colin P
- El-Naggar Hany
- Ellis Colin A
- Faucon Annika
- Feng Yen-Chen Anne
- Ferguson Lisa
- Ferraro Thomas N
- Feucht Martha
- Fitch Eryn
- Fonferko-Shadrach Beata
- Franceschetti Silvana
- French Jacqueline A
- French Jacqueline A
- Freyer Catharine
- Gagliardi Monica
- Gambardella Antonio
- Ganesan Shiva
- Giacomini Thea
- Glauser Tracy A
- Goldberg Ethan
- Goldman Alicia
- Goldstein David B
- Goldstein David B
- Goldstein David B
- Granata Tiziana
- Greenberg David A
- Guerrini Renzo
- Guerrini Renzo
- Gundogdu-Eken Asli
- Gupta Namrata
- Haas Kevin
- Haeusler Martin
- Hakonarson Hakon
- Hakonarson Hakon
- Haryanyan Garen
- Hegde Manu
- Heinzen Erin L
- Helbig Ingo
- Helbig Ingo
- Helbig Ingo
- Helbig Ingo
- Helbig Katherine L
- Hengsbach Christian
- Heyne Henrike
- Hirose Shinichi
- Hirsch Edouard
- Ho Chen-Jui
- Howrigan Daniel P
- Hucks Donald
- Iacomino Michele
- Inoue Yushi
- Ishii Atsushi
- Jehi Lara
- Johnson Michael R
- Kalviainen Reetta
- Kamalakaran Sitharthan
- Kanaan Moien
- Kara Bulent
- Kariuki SymonM
- Kegele Josua
- Kegele Josua
- Kesim Yesim
- Khoueiry-Zgheib Nathalie
- Khoury Jean
- King Chontelle
- Klein Karl Martin
- Klein Karl Martin
- Kluger Gerhard
- Knake Susanne
- Korczyn Amos D
- Korinthenberg Rudolf
- Kousiappa Ioanna
- Krause Roland
- Krestel Heinz
- Krey Ilona
- Kunz Wolfram S
- Kurlemann Gerhard
- Kurlemann Gerhard
- Kuzniecky Ruben I
- Kuzniecky Ruben I
- Kwan Patrick
- Kwan Patrick
- Kwan Patrick
- Labate Angelo
- Lal Dennis
- Lal Dennis
- Lal Dennis
- Lassuthova Petra
- Lauxmann Stephan
- Lawthom Charlotte
- Leech Stephanie L
- Leech Stephanie L
- Lehesjoki Anna-Elina
- Lemke Johannes R
- Lerche Holger
- Lerche Holger
- Lerche Holger
- Lesca Gaetan
- Leu Costin
- Leu Costin
- Lewis-Smith David
- Lewis-Smith David
- Lewis-Smith David
- Licchetta Laura
- Lin Chih-Hsiang
- Lin Kuang-Lin
- Linnankivi Tarja
- Lino Nobili
- Lo Warren
- Lowenstein Daniel H
- Lowenstein Daniel H
- Lowenstein Daniel H
- Lowenstein Daniel H
- Lui Colin HT
- Macnee Marie
- Madeleyn Rene
- Madia Francesca
- Maillard Louis
- Mancardi Maria Margherita
- Manna Lorella
- Marson Anthony G
- Marson Anthony G
- May Patrick
- Mayer Thomas
- McGraw ChristopherM
- McKenna Kevin
- Mei Davide
- Michel Veronique
- Minardi Raffaella
- Montanucci Ludovica
- Montomoli Martino
- Mostacci Barbara
- Motelow Joshua E
- Muccioli Lorenzo
- Mueller-Schlueter Karen
- Muhle Hiltrud
- Najm Imad M
- Nasreddine Wassim
- Neale Benjamin M
- Neubauer Bernd A
- Newton Charles RJC
- Niestroj Lisa-Marie
- Noebels Jeffrey L
- O'Brien Terence J
- Owusu-Agyei Seth
- Ozkara Cigdem
- Papacostas Savvas S
- Parrini Elena
- Parthasarathy Shridhar
- Pendziwiat Manuela
- Petrovski Slave
- Petrovski Slave
- Pickrell William O
- Pippucci Tommaso
- Poduri Annapurna
- Povysil Gundula
- Powell Robert HW
- Privitera Michael
- Rademacher Annika
- Ragona Francesca
- Rau Sarah
- Rees Mark I
- Regan Brigid M
- Regan Brigid M
- Reif Philipp S
- Reinthaler Eva
- Rheims Sylvain
- Riva Antonella
- Rosenow Felix
- Ryvlin Philippe
- Saarela Anni
- Sadleir Lynette G
- Sadoway Tara R
- Salman Baris
- Salpietro Vincenzo
- Scala Marcello
- Schachter Steven
- Schaller Andre
- Schankin Christoph J
- Scheffer Ingrid E
- Scheffer Ingrid E
- Schneider Natascha
- Schreiber Herbert
- Schubert-Bast Susanne
- Schulze-Bonhage Andreas
- Sedlackova Lucie
- Shain Catherine
- Sham Pakc
- Shiedley Beth R
- Shukralla Arif
- Siena S Anthony
- Sills Graeme J
- Singh Tarjinder
- Sisodiya Sanjay M
- Sisodiya Sanjay M
- Solomonson Matthew
- Sperling Michael R
- Stamberger Hannah
- Stanley Kate E
- Stanley Kate E
- Steinhoff Bernhard J
- Stephani Ulrich
- Sterbova Katalin
- Stewart Randy
- Striano Pasquale
- Striano Pasquale
- Surges Rainer
- Suzuki Toshimitsu
- Talkowski Michael
- Taneja Randip S
- Tanteles George A
- Tashman Katherine
- Thomas Rhys H
- Timonen Oskari
- Tinuper Paolo
- Todaro Marian
- Topaloglu Pinar
- Tsai Meng-Han
- Tumiene Birute
- Turkdogan Dilsad
- Ugur-Iseri Sibel
- Utkus Algirdas
- Vaidiswaran Priya
- Valton Luc
- van Baalen Andreas
- Vari Maria Stella
- Vetro Annalisa
- Vlckova Marketa
- von Spiczak Sarah
- von Wrede Randi
- Wagner Ryan G
- Watts Nick
- Weber Yvonne G
- Weckhuysen Sarah
- Weckhuysen Sarah
- Widdess-Walsh Peter
- Wolff Markus
- Wolking Stefan
- Wu David
- Xian Julie
- Yamakawa Kazuhiro
- Yapici Zuhal
- Yiolanda Christou
- Yis Uluc
- Yucesan Emrah
- Zagaglia Sara
- Zara Federico
- Zimprich Friedrich
- Zsurka Gabor
- Publication venue
- Nature Publishing Group
- Publication date
- 01/01/2023
- Field of study
Copy number variants (CNV) are established risk factors for neurodevelopmental disorders with seizures or epilepsy. With the hypothesis that seizure disorders share genetic risk factors, we pooled CNV data from 10,590 individuals with seizure disorders, 16,109 individuals with clinically validated epilepsy, and 492,324 population controls and identified 25 genome-wide significant loci, 22 of which are novel for seizure disorders, such as deletions at 1p36.33, 1q44, 2p21-p16.3, 3q29, 8p23.3-p23.2, 9p24.3, 10q26.3, 15q11.2, 15q12-q13.1, 16p12.2, 17q21.31, duplications at 2q13, 9q34.3, 16p13.3, 17q12, 19p13.3, 20q13.33, and reciprocal CNVs at 16p11.2, and 22q11.21. Using genetic data from additional 248,751 individuals with 23 neuropsychiatric phenotypes, we explored the pleiotropy of these 25 loci. Finally, in a subset of individuals with epilepsy and detailed clinical data available, we performed phenome-wide association analyses between individual CNVs and clinical annotations categorized through the Human Phenotype Ontology (HPO). For six CNVs, we identified 19 significant associations with specific HPO terms and generated, for all CNVs, phenotype signatures across 17 clinical categories relevant for epileptologists. This is the most comprehensive investigation of CNVs in epilepsy and related seizure disorders, with potential implications for clinical practice
GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture
- Author
- Abou-Khalil Bassel
- Adesoji Oluyomi M.
- Afawi Zaid
- Amadori Elisabetta
- Anderson Alison
- Anderson Joseph
- Andrade Danielle M.
- Annesi Grazia
- Auce Pauls
- Avbersek Andreja
- Bahlo Melanie
- Baker Mark D.
- Balagura Ganna
- Balestrini Simona
- Barba Carmen
- Barboza Karen
- Bartolomei Fabrice
- Bast Thomas
- Baum Larry
- Baumgartner Tobias
- Baykan Betül
- Bebek Nerses
- Becker Albert J.
- Becker Felicitas
- Bennett Caitlin A.
- Berghuis Bianca
- Berkovic Samuel F.
- Beydoun Ahmad
- Bianchini Claudia
- Bisulli Francesca
- Blatt Ilan
- Bobbili Dheeraj R.
- Borggraefe Ingo
- Bosselmann Christian
- Braatz Vera
- Bradfield Jonathan P.
- Brockmann Knut
- Brody Lawrence C.
- Buono Russell J.
- Busch Robyn M.
- Caglayan Hande
- Campbell Ciarán
- Campbell Ellen
- Canafoglia Laura
- Canavati Christina
- Cascino Gregory D.
- Castellotti Barbara
- Catarino Claudia B.
- Cavalleri Gianpiero L.
- Cerrato Felecia
- Chassoux Francine
- Chen Siwei
- Cherny Stacey S.
- Cheung Ching-Lung
- Chinthapalli Krishna
- Chou I-Jun
- Chung Seo-Kyung
- Churchhouse Claire
- Clark Peggy O.
- Cole Andrew J.
- Compston Alastair
- Coppola Antonietta
- Cosico Mahgenn
- Cossette Patrick
- Craig John J.
- Cusick Caroline
- Daly Mark J.
- Davis Lea K.
- de Haan Gerrit-Jan
- Delanty Norman
- Depondt Chantal
- Derambure Philippe
- Devinsky Orrin
- Di Vito Lidia
- Dlugos Dennis J.
- Doccini Viola
- Doherty Colin P.
- El-Naggar Hany
- Elger Christian E.
- Ellis Colin A.
- Eriksson Johan G.
- Faucon Annika
- Feng Yen-Chen A.
- Ferguson Lisa
- Ferraro Thomas N.
- Ferri Lorenzo
- Feucht Martha
- Fitzgerald Mark
- Fonferko-Shadrach Beata
- Fortunato Francesco
- Franceschetti Silvana
- Franke Andre
- French Jacqueline A.
- Freri Elena
- Gagliardi Monica
- Gambardella Antonio
- Geller Eric B.
- Giangregorio Tania
- Gjerstad Leif
- Glauser Tracy
- Goldberg Ethan
- Goldman Alicia
- Granata Tiziana
- Greenberg David A.
- Guerrini Renzo
- Gupta Namrata
- Haas Kevin F.
- Hakonarson Hakon
- Hallmann Kerstin
- Hassanin Emadeldin
- Hegde Manu
- Heinzen Erin L.
- Helbig Ingo
- Hengsbach Christian
- Heyne Henrike O.
- Hirose Shinichi
- Hirsch Edouard
- Hjalgrim Helle
- Howrigan Daniel P.
- Hucks Donald
- Hung Po-Cheng
- Iacomino Michele
- Imbach Lukas L.
- Inoue Yushi
- Ishii Atsushi
- Jamnadas-Khoda Jennifer
- Jehi Lara
- Johnson Michael R.
- Kamatani Yoichiro
- Kanaan Moien
- Kanai Masahiro
- Kantanen Anne-Mari
- Kara Bülent
- Kariuki Symon M.
- Kasperavičiūte Dalia
- Kasteleijn-Nolst Trenite Dorothee
- Kato Mitsuhiro
- Kegele Josua
- Kesim Yeşim
- Khoueiry-Zgheib Nathalie
- King Chontelle
- Kirsch Heidi E.
- Klein Karl M.
- Kluger Gerhard
- Knake Susanne
- Knowlton Robert C.
- Koeleman Bobby P. C.
- Korczyn Amos D.
- Koupparis Andreas
- Kousiappa Ioanna
- Krause Roland
- Krenn Martin
- Krestel Heinz
- Krey Ilona
- Kunz Wolfram S.
- Kurki Mitja I.
- Kurlemann Gerhard
- Kuzniecky Ruben
- Kwan Patrick
- Kälviäinen Reetta
- Labate Angelo
- Lacey Austin
- Lal Dennis
- Landoulsi Zied
- Lau Yu-Lung
- Lauxmann Stephen
- Leech Stephanie L.
- Lehesjoki Anna-Elina
- Lemke Johannes R.
- Lerche Holger
- Lesca Gaetan
- Leu Costin
- Lewin Naomi
- Lewis-Smith David
- Li Gloria H.-Y.
- Li Qingqin S.
- Licchetta Laura
- Lin Kuang-Lin
- Lindhout Dick
- Linnankivi Tarja
- Lopes-Cendes Iscia
- Lowenstein Daniel H.
- Lui Colin H. T.
- Madia Francesca
- Magnusson Sigurdur
- Marson Anthony G.
- May Patrick
- McGraw Christopher M.
- Mei Davide
- Mills James L.
- Minardi Raffaella
- Mirza Nasir
- Molloy Anne M.
- Montomoli Martino
- Mostacci Barbara
- Muccioli Lorenzo
- Muhle Hiltrud
- Møller Rikke S.
- Müller-Schlüter Karen
- Najm Imad M.
- Nasreddine Wassim
- Neale Benjamin M.
- Neubauer Bernd
- Newton Charles R. J. C.
- Nothnagel Michael
- Nöthen Markus M.
- Nürnberg Peter
- Okada Yukinori
- Oliver Karen L.
- O’Brien Terence J.
- Palotie Aarno
- Pangilinan Faith
- Papacostas Savvas S.
- Parrini Elena
- Pato Carlos N.
- Pato Michele T.
- Pendziwiat Manuela
- Petrovski Slavé
- Pickrell William O.
- Pinsky Rebecca
- Pippucci Tommaso
- Poduri Annapurna
- Pondrelli Federica
- Powell Rob H. W.
- Privitera Michael
- Rademacher Annika
- Radtke Rodney
- Ragona Francesca
- Rau Sarah
- Rees Mark I.
- Regan Brigid M.
- Reif Philipp S.
- Rhelms Sylvain
- Riva Antonella
- Rosenow Felix
- Ryvlin Philippe
- Saarela Anni
- Sadleir Lynette G.
- Sander Josemir W.
- Sander Thomas
- Scala Marcello
- Scattergood Theresa
- Schachter Steven C.
- Schankin Christoph J.
- Scheffer Ingrid E.
- Schmitz Bettina
- Schoch Susanne
- Schubert-Bast Susanne
- Schulze-Bonhage Andreas
- Scudieri Paolo
- Sham Pak
- Sheidley Beth R.
- Shih Jerry J.
- Sills Graeme J.
- Sisodiya Sanjay M.
- Smith Michael C.
- Smith Philip E.
- Sonsma Anja C. M.
- Speed Doug
- Sperling Michael R.
- Stefansson Hreinn
- Stefansson Kári
- Steinhoff Bernhard J.
- Stephani Ulrich
- Stevelink Remi
- Stewart William C.
- Stipa Carlotta
- Striano Pasquale
- Stroink Hans
- Strzelczyk Adam
- Surges Rainer
- Suzuki Toshimitsu
- Tan K. Meng
- Taneja R. S.
- Tanteles George A.
- Taubøll Erik
- Thio Liu Lin
- Thomas G. Neil
- Thomas Rhys H.
- Timonen Oskari
- Tinuper Paolo
- Todaro Marian
- Topaloğlu Pınar
- Tozzi Rossana
- Tsai Meng-Han
- Tumiene Birute
- Turkdogan Dilsad
- Unnsteinsdóttir Unnur
- Utkus Algirdas
- Vaidiswaran Priya
- Valton Luc
- van Baalen Andreas
- Vetro Annalisa
- Vining Eileen P. G.
- Visscher Frank
- von Brauchitsch Sophie
- von Wrede Randi
- Wagner Ryan G.
- Weber Yvonne G.
- Weckhuysen Sarah
- Weisenberg Judith
- Weller Michael
- Widdess-Walsh Peter
- Wolff Markus
- Wolking Stefan
- Wu David
- Yamakawa Kazuhiro
- Yang Wanling
- Yapıcı Zuhal
- Yücesan Emrah
- Zagaglia Sara
- Zahnert Felix
- Zara Federico
- Zhou Wei
- Zimprich Fritz
- Zsurka Gábor
- Zulfiqar Ali Quratulain
- Ólafsson Elías
- Özkara Çiğdem
- Publication venue
- Nature Research
- Publication date
- 01/01/2023
- Field of study
Epilepsy is a highly heritable disorder affecting over 50 million people worldwide, of which about one-third are resistant to current treatments. Here we report a multi-ancestry genome-wide association study including 29,944 cases, stratified into three broad categories and seven subtypes of epilepsy, and 52,538 controls. We identify 26 genome-wide significant loci, 19 of which are specific to genetic generalized epilepsy (GGE). We implicate 29 likely causal genes underlying these 26 loci. SNP-based heritability analyses show that common variants explain between 39.6% and 90% of genetic risk for GGE and its subtypes. Subtype analysis revealed markedly different genetic architectures between focal and generalized epilepsies. Gene-set analyses of GGE signals implicate synaptic processes in both excitatory and inhibitory neurons in the brain. Prioritized candidate genes overlap with monogenic epilepsy genes and with targets of current antiseizure medications. Finally, we leverage our results to identify alternate drugs with predicted efficacy if repurposed for epilepsy treatment
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
- Christine Chomienne
- Christine Desmedt
- Christine P'ng
- Christof von Kalle
- 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
- 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 C Collins
- Colin S Cooper
- 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
- Daniel Rosebrock
- Daniel S Brewer
- Daniela S Gerhard
- Danielle Pasternack
- Darell Bigner
- Dariush Etemadmoghadam
- Darlene Lee
- Darrin F Taylor
- Dave Larson
- David A Wheeler
- David A Wheeler
- David C Wedge
- David Craft
- David D L Bowtell
- David E Neal
- David Haan
- David Haussler
- David Haussler
- David Hedley
- David Huntsman
- David I Heiman
- David J Adams
- David J Van Den Berg
- David K Chang
- David K Miller
- David Khoo
- David Mutch
- David N Louis
- David Nicol
- David Ocana
- David R Jones
- David R Jones
- David Scott
- David T Bowen
- David T W Jones
- David Tamborero
- David Torrents
- David Torrents
- David Townend
- David Vicente
- Davide Antonello
- Declan Cahill
- Denis Larsimont
- Denis Yuen
- Denise Brooks
- Deniz Demircioğlu
- Dennis C Sgroi
- Dennis Karsch
- Dennis T Maglinte
- Dennis Wigle
- Derek W Wright
- Dianne E Chadwick
- Dido Lenze
- Dieter Kube
- Dieter Weichenhan
- Dilip D Giri
- Dimitri Livitz
- Dimitri Livitz
- Dimple Chakravarty
- Ding
- Dirk Schadendorf
- Dmitry A Gordenin
- Dominik Glodzik
- Don Chalmers
- Dong Guanlan
- Dongbing Liu
- Donghoon Lee
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- 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
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Preconception consultations with Maternal Fetal Medicine for obese women: a retrospective chart review
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 14/07/2017
- Field of study
Background: Obesity is associated with impaired fertility and pregnancy complications, and preconception weight loss may improve some of these outcomes. The purpose of this study was to evaluate the quality and effectiveness of Maternal Fetal Medicine (MFM) preconception consults for obese women. Methods: We performed a retrospective chart review examining 162 consults at an academic medical center from 2008 to 2014. The main outcome measures included consultation content – e.g. discussion of obesity-related pregnancy complications, screening for comorbidities, and referrals for weight loss interventions – and weight loss. Results: Screening for diabetes and hypertension occurred in 48% and 51% of consults, respectively. Discussion of obesity-related pregnancy complications was documented in 96% of consults. During follow-up (median 11 months), 27% of patients saw a nutritionist, 6% saw a provider for a medically supervised weight loss program, and 6% underwent bariatric surgery. The median weight change was a loss of 0.6% body weight. Conclusions: In this discovery cohort, a large proportion of MFM preconception consultations lacked appropriate screening for obesity-related comorbidities. While the vast majority of consultations included a discussion of potential pregnancy complications, relatively few patients achieved significant weight loss. More emphasis is needed on weight loss resources and delaying pregnancy to achieve weight loss goals
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- Publication venue
- 'Elsevier BV'
- Publication date
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The combined impact of maternal age and body mass index on cumulative live birth following in vitro fertilization
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- Al-Obaidly
- Ann Muir Thomas
- Ata
- Balen
- Bellver
- Brewer
- Buchwald
- Chloe A. Zera
- Clark
- Colquitt
- Duval
- Einarsson
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- Luke
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- Zaadstra
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Syntactic processing of auditory and visual sentences in a learning‐disabled child: Relation to short‐term memory
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The impact of supraphysiologic serum estradiol levels on peri-implantation embryo development and early pregnancy outcome following in vitro fertilization cycles
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- A Pellicer
- A Pellicer
- Aaron K. Styer
- AJ Levi
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- Anthony N. Imudia
- AT Turer
- Awoniyi O. Awonuga
- C O’Neill
- C Simon
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- DH Lee
- Diane L. Wright
- DJ Barker
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- JJ Tarin
- KC Calhoun
- LA Schieve
- MG Retzloff
- MJ Davies
- MK Bohlmann
- PE Chenette
- QJ Chen
- QJ Chen
- R Forman
- RA Jackson
- Randi H. Goldman
- RJ Gratton
- S Ehrlich
- SB Harrod
- SD McDonald
- SL Tan
- T Perri
- TA Gelbaya
- Thomas L. Toth
- TJ Gelety
- VM Allen
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- 'Springer Science and Business Media LLC'
- Publication date
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Sex differences in oncogenic mutational processes
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- A Gordon Robertson
- Abdullah Kahraman
- Abel Gonzalez-Perez
- Adam A Margolin
- Adam Abeshouse
- Adam Grundhoff
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- Adam J Wright
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- Adam Margolin
- Adam P Butler
- Adel El-Naggar
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- 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
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- Ana Dueso-Barroso
- Ana Mijalkovic Mijalkovic-Lazic
- Ana Milovanovic
- Andre Kahles
- Andrea Haake
- Andrea Holbrook
- Andrea L Richardson
- Andrea Mafficini
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- Andreas Behren
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- Andreia V Pinho
- Andrew Berchuck
- Andrew D Cherniack
- Andrew J Dunford
- Andrew J Mungall
- Andrew J Spillane
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- 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
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- Antonios Koures
- Aparna Prasad
- Apurva M Hegde
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- Axel Aretz
- Aya Sasaki-Oku
- Ayellet V Segre
- B F Francis Ouellette
- Barbara Hutter
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- Bartha M Knoppers
- Beifang Niu
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- Benjamin J Raphael
- Benjamin P Berman
- Benjamin Raeder
- Bernardo Rodriguez-Martin
- Bernhard Radlwimmer
- Bernice H Wong
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- Gulietta M Pupo
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- Haiyan Irene Li
- Han Liang
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- HarshaVardhan Doddapaneni
- Hartmut Juhl
- Harvey Pass
- Hayley C Whitaker
- Hayley J Luxton
- Hazel Burke
- Heather K Schmidt
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- Hee Jin Lee
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- Henrik Hornshøj
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- Hideki Ohdan
- Hidenori Ojima
- Hidewaki Nakagawa
- Hikmat Al-Ahmadie
- Hilda A Pickett
- Hirofumi Rokutan
- Hirokazu Taniguchi
- Hiroki Yamaue
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- Ian J Davis
- Ian Welch
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- Iker Reyes-Salazar
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- Jaswinder S Samra
- Javier Bartolome
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- Kristian Cibulskis
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- Laurence B Lovat
- Laurent Arnould
- Lauri A Aaltonen
- Lawrence E Heisler
- Layla Oesper
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- Leng Han
- Leonidas Salichos
- Leslie Cope
- Leszek J Klimczak
- Levi Garraway
- Levi Garraway
- Lewis Jonathan Dursi
- Lewis R Roberts
- Li Ding
- Li Constance H
- Liangtao Zheng
- Lieven P C Verbeke
- Lihua Zou
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- Liliana Greger
- Liming Yang
- Lin Li
- Lina Sieverling
- Lina Wadi
- Lincoln D Stein
- Lincoln D Stein
- Linda Mileshkin
- Linghua Wang
- Lisa Lype
- Lisa Mirabello
- Lisle E Mose
- Liu Xi
- 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
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- Lucinda A Fulton
- Lucy Matthews
- Lucy Stebbings
- Lucy Yates
- Ludmil B Alexandrov
- Ludmila Danilova
- Luisa Mantovani-Löffler
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- Malcolm Brock
- Malcolm J Moore
- Malene Juul
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- Mamoru Kato
- Manasa Ramakrishna
- Manaswi Gupta
- Manolis Kellis
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- Mayuko Furuta
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- Shun-Ichi Ariizumi
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- Sian Fereday
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- Sissel Juul
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- Stephanie Sungalee
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- Stuart Edmonds
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- Suet-Feung Chin
- Sultan T Al-Sedairy
- Sun Ren X
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- Sunghoon Cho
- Sunil R Lakhani
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- Susan Bullman
- Susanna L Cooke
- Susanna L Cooke
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- Tatsuhiro Shibata
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- Thomas J Hudson
- Thomas J Matthew
- Thomas J Mitchell
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- Tian Xia
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- Timothy J Underwood
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- 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
- Christine Chomienne
- Christine Desmedt
- Christine P'ng
- Christof von Kalle
- 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
- 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 C Collins
- Colin S Cooper
- 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
- Daniel Rosebrock
- Daniel S Brewer
- Daniela S Gerhard
- Danielle Pasternack
- Darell Bigner
- Dariush Etemadmoghadam
- Darlene Lee
- Darrin F Taylor
- Dave Larson
- David A Wheeler
- David A Wheeler
- David C Wedge
- David Craft
- David D L Bowtell
- David E Neal
- David Haan
- David Haussler
- David Haussler
- David Hedley
- David Huntsman
- David I Heiman
- David J Adams
- David J Van Den Berg
- David K Chang
- David K Miller
- David Khoo
- David Mutch
- David N Louis
- David Nicol
- David Ocana
- David R Jones
- David R Jones
- David Scott
- David T Bowen
- David T W Jones
- David Tamborero
- David Torrents
- David Torrents
- David Townend
- David Vicente
- Davide Antonello
- Declan Cahill
- Denis Larsimont
- Denis Yuen
- Denise Brooks
- Deniz Demircioğlu
- Dennis C Sgroi
- Dennis Karsch
- Dennis T Maglinte
- Dennis Wigle
- Derek W Wright
- Dianne E Chadwick
- Dido Lenze
- Dieter Kube
- Dieter Weichenhan
- Dilip D Giri
- Dimitri Livitz
- Dimitri Livitz
- Dimple Chakravarty
- Ding
- Dirk Schadendorf
- Dmitry A Gordenin
- Dominik Glodzik
- Don Chalmers
- Dong Guanlan
- Dongbing Liu
- Donghoon Lee
- Donghui Tan
- Donna M Muzny
- Dorthe Grabau
- Douglas A Levine
- Douglas F Easton
- Douglas Voet
- Duncan Beardsmore
- Dursi Lewis Jonathan
- 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
- Ellrott Kyle
- Emilie Lalonde
- Eoghan Harrington
- Eric Chuah
- Eric Green
- Eric Lander
- Eric Minwei Liu
- Eric Z Ma
- Eric Z Ma
- Erik Garrison
- Erik Larsson
- Erik Mayer
- Erik N Bergstrom
- Erin Curley
- Ermin Hodzic
- Erwin G Van Meir
- Esa Pitkänen
- Esther Rheinbay
- Esther Rheinbay
- Eun Pyo Hong
- Eunjung Alice Lee
- Eva G Alvarez
- Eva Hellstrom-Lindberg
- Ewan Birney
- F Germán Rodríguez-González
- Fabien C Lamaze
- Fabien Calvo
- Fabio C P Navarro
- Faiyaz Notta
- Fan Yang
- Fan Zhang
- Faraz Hach
- Faraz Hach
- Faridah Mbabaali
- Fatima Al-Shahrour
- Federico Abascal
- Fei-Fei Liu
- 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
- Gad Getz
- Gad Getz
- Gaetan MacGrogan
- Gaetano Finocchiaro
- Gary D Bader
- Gavin Ha
- Gavin W Wilson
- Genta Nagae
- Geoff Macintyre
- George B Hanna
- George L Mihaiescu
- Georgia Escaramis
- Georgina V Long
- Gerd Nettekoven
- German M Demidov
- German Ott
- Gerrit K Hooijer
- Gerstein Mark B
- Gert G Van den Eynden
- Getz Gad
- Ghislaine Scelo
- Giada Bonizzato
- Giampaolo Tortora
- Gilles Romieu
- Gilles Thomas
- Giovanni Marchegiani
- Gisela Mir Arnau
- Giuseppe Malleo
- Gloria M Petersen
- Gordon B Mills
- Gordon B Mills
- Gordon Saksena
- Gordon Saksena
- Gordon Saksena
- Grace Tiao
- Grace Tiao
- Graham J Mann
- Grant Sanders
- Gu Kong
- Guanming Wu
- Guido Reifenberger
- Guido Sauter
- Guillaume Bourque
- Gulietta M Pupo
- Gun Ho Jang
- Gunes Gundem
- Gunnar Rätsch
- Gurnit Atwal
- Hailei Zhang
- Haiyan Irene Li
- Han Liang
- Hana Susak
- Hans Binder
- Hans Lehrach
- Hans-Jörg Warnatz
- Hardeep K Nahal-Bose
- Hark Kyun Kim
- HarshaVardhan Doddapaneni
- Hartmut Juhl
- Harvey Pass
- Hayley C Whitaker
- Hayley J Luxton
- Hazel Burke
- Heather K Schmidt
- Heather Thorne
- Hee Jin Lee
- Heidi J Sofia
- Heidi Sofia
- Helen Davies
- Helena Kilpinen
- Helene Kretzmer
- Heng Xiong
- Henk G Stunnenberg
- Henrik Hornshøj
- Henry Lee-Six
- Hideki Ohdan
- Hidenori Ojima
- Hidewaki Nakagawa
- Hikmat Al-Ahmadie
- Hilda A Pickett
- Hirofumi Rokutan
- Hirokazu Taniguchi
- Hiroki Yamaue
- Hiroko Tanaka
- Hiromi Nakamura
- Hiroshi Aikata
- Hiroto Katoh
- Hiroyuki Aburatani
- Hitoshi Katai
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- Xiaoping Su
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- 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
- 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