16 research outputs found
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How Are Engineering Ethics Integrated Into High School Education In Colorado?
- Author
- Publication venue
- University of Colorado Boulder
- Publication date
- 25/11/2019
- Field of study
Engineering education continues to become more prominent in Colorado high schools, through dedicated classes, integrated into other STEM courses (such as science and math), and/or extracurricular activities. An important topic within engineering is ethics. This includes macroethical issues such as the environmental and societal impacts of engineering and technology. However, engineering ethics education in high schools has not been widely characterized. This research therefore examines if and how ethics are being implemented in high school engineering education, seeking to understand the teacher perspective. This qualitative research was conducted by interviewing 14 high school teachers in Colorado. These teachers represent multiple STEM subjects, school districts, public and private institutions, as well as religious and nonsectarian institutions. The results of this study detailed how most STEM teachers integrate ethics, although they may not recognize this. Furthermore, most teachers believed that this integration to be important in K12 education.</p
Integrated Genomic Analysis of the Ubiquitin Pathway across Cancer Types
- Author
- Abdel-Rahman Mohamed H.
- Abeshouse Adam
- Adebamowo Clement
- Adebamowo Sally N.
- Agnew Kathy
- Ahn Keunsoo
- Ajani Jaffer A.
- Akbani Rehan
- Akeredolu Teniola
- Al-Ahmadie Hikmat
- Albert Monique
- Alexopoulou Iakovina
- Ally Adrian
- Alvaro Domenico
- Anderson Matthew L.
- Andry Chris
- Antenucci Anna
- Anur Pavana
- Appelbaum Elizabeth L.
- Aredes Natália D.
- Armenia Joshua
- Arnaout Angel
- Asa Sylvia L.
- Auman J. Todd
- Aymerich Marta
- Aziz Dina
- Bailey Matthew
- Balasundaram Miruna
- Balu Saianand
- Barnett Gene
- Barnholtz-Sloan Jill S.
- Barrett Wendi
- Bartlett John
- Bathe Oliver
- Baudin Eric
- Baylin Stephen
- Becker Karl-Friedrich
- Beer David
- Behera Madhusmita
- Behrens Carmen
- Bell Debra
- Bell Sue
- Bellair Michelle
- Bennett Joseph
- Benz Christopher
- Berchuck Andrew
- Berger Ashton C.
- Bergeron Alain
- Berkowitz Ross
- Bernard Brady
- Beroukhim Rameen
- Beuschlein Felix
- Bifulco Carlo
- Bigner Darell
- Birrer Michael
- Birsoy Kivanc
- Bocklage Therese
- Bodenheimer Tom
- Bondaruk Jolanta
- Bootwalla Moiz S.
- Borad Mitesh
- Borgia Jeffrey A.
- Bossler Aaron
- Botnariuc Natalia
- Boussioutas Alex
- Bowen Jay
- Bowlby Reanne
- Bowman Rayleen
- Bradford Carol
- Bragazzi Maria Consiglia
- Brat Daniel J.
- Breggia Anne
- Brewer Cathy
- Brimo Fadi
- Broaddus Russell
- Brooks Denise
- Broom Bradley M.
- Broudy Thomas
- Bryce Alan H.
- Bubley Glenn
- Bueno Raphael
- Burnette Andrew
- Caesar-Johnson Samantha J.
- Calatozzolo Chiara
- Campo Elias
- Campos Benito
- Caraman Irina
- Cardinale Vincenzo
- Carey Francis
- Carey Thomas
- Carlotti Carlos Gilberto
- Carlsen Rebecca
- Carney Michael
- Carpino Guido
- Carroll Peter R.
- Carter Candace
- Carvalho Andre L.
- Castle Erik
- Castro Patricia D.
- Catto James
- Cebulla Colleen M.
- Cernat Mircea
- Chabot John
- Chakravarty Debyani
- Chambwe Nyasha
- Chan June M.
- Chan Timothy A.
- Chandan Vishal
- Chang Kyle
- Chatila Walid K.
- Chemencedji Inga
- Chen Amy
- Chen Chu
- Chen Hu
- Chen Zhongyuan
- Cheng Feixiong
- Cherniack Andrew D.
- Chesla David
- Chevalier Simone
- Cheville John
- Cho Juok
- Chuah Eric
- Chudamani Sudha
- Chung Ki
- Cibulskis Carrie
- Clipca Adrian
- Colman Howard
- Cope Leslie
- Copland John A.
- Corcoran Niall
- Cordes Matthew G.
- Costello Tony
- Cottingham Sandra
- Couce Marta
- Covington Kyle
- Crain Daniel
- Cramer Daniel
- Creaney Jenette
- Creighton Chad J.
- Cuppini Lucia
- Curley Erin
- Cuzzubbo Stefania
- Czerniak Bogdan
- Danilova Ludmila
- Davis Amy
- de Bruijn Ino
- de Carvalho Ana C.
- de Krijger Ronald
- De Rienzo Assunta
- De Rose Agostino
- Defreitas Timothy
- Delman Keith
- Demchok John A.
- Desjardins Laurence
- Devine Karen
- Deyarmin Brenda
- Dhalla Noreen
- Dhanasekaran Renumathy
- Dhankani Varsha
- Dhir Rajiv
- Dimeco Francesco
- Ding Li
- Dinh Huyen
- Dinkin Mikhail
- Dipersio John
- Disaia Philip
- Doddapaneni Harshavardhan
- Donehower Lawrence A.
- Doruc Serghei
- Dos Santos Jose Sebastião
- Dottino Peter R.
- Drake Bettina
- Drummond Jennifer
- Drwiega Paul
- Dubina Michael
- Duell Rebecca
- Duffy Elizabeth R.
- Eckman John
- Edenfield W. Jeffrey
- Eijckenboom Wil
- Elder J. Bradley
- Engel Jay
- Eschbacher Jennifer
- Esmaeli Bita
- Evason Kimberley
- Facciolo Francesco
- Fan Cheng
- Fan Huihui
- Fantacone-Campbell J. Leigh
- Farnell Michael
- Farver Carol
- Fassnacht Martin
- Fehrenbach Ashley
- Felau Ina
- Feldman Michael
- Feltmate Colleen
- Ferguson Martin L.
- Finocchiaro Gaetano
- Flotte Thomas
- Fong Kwun M.
- Force Seth
- Forgie Ian
- Frazer Scott
- Fregnani José H.
- Fronick Catrina C.
- Fujimoto Junya
- Fulop Jordonna
- Fulton Lucinda A.
- Fulton Robert S.
- Gabra Hani
- Gabriel Stacey B.
- Galbraith Joseph
- Gao Galen F.
- Gao Jianjiong
- Gardner Johanna
- Gastier-Foster Julie M.
- Gaudio Eugenio
- Ge Zhongqi
- Gehlenborg Nils
- Gerken Mark
- Gershenwald Jeffrey
- Getz Gad
- Ghossein Ronald
- Giama Nasra
- Gibbs Richard A.
- Gilbert Sebastien
- Gillis Ad
- Gimenez-Roqueplo Anne-Paule
- Giné Eva
- Giordano Thomas
- Girard Nicolas
- Giuliante Felice
- Glenn Pat
- Glenn Robert
- Godwin Andrew K.
- Godwin Eryn M.
- Gonzalez Ana Maria Angulo
- Goodman Marc
- Gopalan Anuradha
- Goparaju Chandra
- Gorincioi Ghenadie
- Govindan Ramaswamy
- Graefen Markus
- Grazi Gianluca
- Grizzle William E.
- Gross Benjamin E.
- Guillermo Armando López
- Guo Charles
- Ha Gavin
- Haddad Andrea
- Hagedorn Curt H.
- Hale Walker
- Han Yi
- Hanh Phan Thi
- Hansen Paul
- Harr Jodi
- Hartmann Arndt
- Haydu Lauren
- Hayes D. Neil
- Hayward Nicholas
- Heath Sharon
- Hegde Apurva M.
- Heiman David I.
- Heins Zachary J.
- Henderson Joel
- Hermes Beth
- Hernandez Brenda
- Herold-Mende Christel
- Hersey Peter
- Hess Julian
- Hibshoosh Hanina
- Hilty Joe
- Hinoue Toshinori
- Ho Thai
- Hoadley Katherine A.
- Holt Robert
- Hooke Jeffrey A.
- Hoon Dave
- Horowitz Neil
- Houck John
- Hovens Christopher
- Hoyle Alan P.
- Hu Hai
- Hu Hai
- Hu Jianhong
- Huland Hartwig
- Hung Nguyen Phi
- Huntsman David
- Hutter Carolyn M.
- Iacocca Mary
- Ittmann Michael
- Jacobus Laura
- Jakrot Valerie
- Janssen Klaus-Peter
- Jefferys Stuart R.
- Jimeno Antonio
- Jones Corbin D.
- Jones Steven J. M.
- Ju Zhenlin
- Juhl Hartmut
- Jungk Christin
- Junker Kerstin
- Kakavand Hojabr
- Kalkanis Steven
- Kanchi Rupa S.
- Kandoth Cyriac
- Kang Koo Jeong
- Karlan Beth Y.
- Kasaian Katayoon
- Kasapi Melpomeni
- Kastl Alison
- Kebebew Electron
- Kefford Richard
- Kelley Robin K.
- Kemp Rafael
- Kendall Sara
- Kendler Ady
- Kendrick Michael
- Khuri Fadlo
- Kibel Adam
- Kim Jaegil
- Knijnenburg Theo
- Knudson Michael
- Knutson Tina
- Kocher Jean-Pierre
- Kohl Bernard
- Kopp Karla
- Korchina Viktoriya
- Korkut Anil
- Korpershoek Esther
- Korst Robert
- Kovatich Albert J.
- Kramer Roger
- Kucherlapati Melanie H.
- Kucherlapati Raju S.
- Kumar Bahavna
- Kundra Ritika
- Kvecher Leonid
- Kycler Witold
- La Konnor
- Lacombe Louis
- Ladanyi Marc
- Lai Phillip H.
- Laird Peter W.
- Landen Charles N.
- Landrum Lisa
- Lang James
- Larson Caroline
- Latour Mathieu
- Lau Kevin
- Lawrence Michael S.
- Lazar Alexander J.
- Le Xuan
- Lechan Ronald
- Lee Darlene
- Lee Jung Il
- Lee Kenneth
- Lee Sandra
- Lehman Norman L.
- Leighton Jake S.
- Leinonen Kalle
- Leraas Kristen M.
- Levine Douglas A.
- Lewis Lora
- Ley Timothy
- Li Jun
- Li Jun
- Li Wei
- Liang Han
- Liang Han
- Lichtenberg Tara M.
- Lin Pei
- Linehan W. Marston
- Ling Shiyun
- Lipp Eric
- Liptay Michael J.
- Liu Jia
- Liu Jianfang
- Liu Wenbin
- Liu Xiuping
- Liu Yuexin
- Logothetis Christopher
- Lohavanichbutr Pawadee
- Lolla Laxmi
- Long Georgina
- Longatto-Filho Adhemar
- Looijenga Leendert
- Lu Yiling
- Luketich James
- Luna Augustin
- Lyadov Vladimir
- Ma Deqin
- Ma Li
- Ma Yussanne
- Madan Rashna
- Maglinte Dennis T.
- Magliocca Kelly
- Maithel Shishir
- Mallery David
- Malykh Andrei
- Mandt Randy
- Manikhas George
- Mann Graham
- Mannel Robert
- Mannelli Massimo
- Mardis Elaine R.
- Mariamidze Armaz
- Mariani Odette
- Marino Mirella
- Marks Jeffrey
- Marra Marco A.
- Martignetti John A.
- Martin Julie
- Mattei Luca
- Mayo Michael
- Mccall Shannon
- Mcgraw Mary
- Mckercher Ginette
- Mclellan Michael D.
- Mclendon Roger
- Mcpherson Christopher
- Meier Sam
- Melamed Jonathan
- Meng Shaowu
- Meric-Bernstam Funda
- Merola Roberta
- Mes-Masson Anne-Marie
- Metwalli Adam R.
- Meyerson Matthew
- Mieczkowski Piotr A.
- Mikkelsen Tom
- Milhem Mohammed
- Miller Christopher A.
- Miller Judy
- Miller Michael
- Mills Gordon B.
- Mirsaidi Cyrus
- Moiseenko Fedor
- Moncrieff Marc
- Moore Kathleen
- Moore Richard A.
- Moran Cesar
- Morgan Margaret
- Morris Scott
- Morrison Carl
- Morton Donna
- Mose Lisle E.
- Moser Catherine
- Moxley Katherine
- Moyer Jeffey
- Mungall Andrew J.
- Mungall Karen
- Mura Sergiu
- Mural Richard J.
- Murawa Dawid
- Muto Michael
- Muzny Donna
- Myers Jerome
- Nagorney David
- Nair Praveen
- Naresh Rashi
- Naska Theresa
- Nelson Mark
- Ng Kwok-Shing
- Nguyen Phuong
- Nissan Moriah G.
- Noble Michael S.
- Noss Ardene
- Noushmehr Houtan
- O'Brien Daniel
- O'Neill Brian Patrick
- Ochoa Angelica
- Olabode Oluwole
- Olson Jeffrey J.
- Omberg Larsson
- Oosterhuis Wolter
- Ostrom Quinn T.
- Owonikoko Taofeek
- Pacak Karel
- Paklina Oxana
- Parfitt Jeremy
- Park Joong-Won
- Parker Joel S.
- Pass Harvey
- Patel Tushar
- Paulauskis Joseph
- Peng Xinxin
- Pennell Nathan A.
- Penny Robert
- Perin Alessandro
- Perou Amy H.
- Perou Charles M.
- Petersen Gloria
- Peterson Lisa
- Peto Myron
- Phillips Joanna
- Phillips Sarah M.
- Phu Bui Duc
- Piché Alain
- Pickens Alan
- Pihl Todd
- Pilarski Robert
- Pinero Edna M. Mora
- Pinto Peter A.
- Pirtac Maria
- Piwnica-Worms Helen
- Pollo Bianca
- Pool Mark
- Porten Sima
- Postier Russel
- Potapova Olga
- Powers James
- Prados Michael
- Prince Mark
- Que Florencia
- Quinn Michael
- Quintero-Aguilo Mario
- Rabeno Brenda
- Rai Karan
- Ramalingam Suresh
- Ramirez Nilsa C.
- Ramondetta Lois
- Rao Arvind
- Rassl Doris M.
- Rathmell W. Kimryn
- Raut Chandrajit P.
- Raymond Daniel
- Reis Rui M.
- Reuter Victor
- Reynolds Sheila
- Reznik Ed
- Rice David
- Richards William G.
- Rintoul Robert C.
- Rivera Michael
- Roach Jeffrey
- Roberts Lewis
- Robertson A. Gordon
- Robinson Bruce
- Roggin Kevin
- Roman-Roman Sergio
- Rosenthal Howard G.
- Rozek Laura
- Rubin Mark A.
- Ryan Michael
- Saad Fred
- Sadeghi Sara
- Saksena Gordon
- Sanchez-Vega Francisco
- Sander Chris
- Sankarankuty Ajith
- Santibanez Jireh
- Sastre Xavier
- Sauter Guido
- Saw Robyn
- Scapulatempo-Neto Cristovam
- Scarpace Lisa
- Schadendorf Dirk
- Schein Jacqueline E.
- Schiffman Mark
- Schilero Cathy
- Schlomm Thorsten
- Schmidt Heather K.
- Schmidt Laura S.
- Schoenfield Lynn
- Schultz Nikolaus
- Schumacher Steven E.
- Scolyer Richard
- Secord Angeles
- Seder Christopher W.
- Sekhon Harman
- Senecal Kelly
- Sepulveda Antonia
- Setdikova Galiya
- Sexton Katherine C.
- Shabunin Alexey
- Shannon Kerwin
- Sharp Alexis
- Shelley Carl Simon
- Shelton Candace
- Shelton Troy
- Shen Hui
- Sheridan Robert
- Sherman Mark
- Sheth Margi
- Shi Yan
- Shih Juliann
- Shimmel Kristen
- Shin Dong M.
- Shinbrot Eve
- Shipman Cassaundra
- Shmulevich Ilya
- Shriver Craig D.
- Shriver Craig D.
- Sica Gabriel
- Sifri Suzanne
- Sigmund Rita
- Signoretti Sabina
- Silveira Henrique C. S.
- Simko Jeffry
- Simon Ronald
- Simons Janae V.
- Singer Samuel
- Singh Bhuvanesh
- Singh Rosy
- Sipahimalani Payal
- Skelly Tara
- Sloan Andrew E.
- Slotta-Huspenina Julia
- Smallridge Robert
- Smith Jennifer
- Smith-McCune Karen
- Smolenski Kathy
- Smyrk Thomas
- Sofia Heidi J.
- Soloway Matthew G.
- Somiari Stella
- Sood Anil
- Spellman Paul
- Spillane Andrew
- Stancul Irina
- Stanton Melissa
- Staugaitis Susan M.
- Steele Ruth
- Stepa Serghei
- Stern Marc-Henri
- Stoehr Christine
- Stoehr Robert
- Stoop Hans
- Stretch Jonathan
- Stuart Joshua M.
- Su Tao
- Sumer S. Onur
- Sun Qiang
- Sun Yichao
- Sun Yutong
- Swanson Patricia
- Swisher Elizabeth
- Synott Maria
- Tam Angela
- Tamakawa Raina
- Tamboli Pheroze
- Tan Donghui
- Tang Yufang
- Tarnuzzer Roy
- Taubert Helge
- Tavobilov Mikhail
- Taylor Barry S.
- Tcaciuc Diana
- Tennstedt Pierre
- Thiessen Nina
- Thomas George
- Thompson Eric
- Thompson John
- Thompson R. Houston
- Thompson Timothy
- Thorp Richard
- Thorsson Vesteinn
- Tien Nguyen Viet
- Timmers Henri
- Tirapelli Daniela
- Tischler Arthur
- Torbenson Michael
- Troncoso Patricia
- Tsao Anne
- Tse Kane
- Tucker Kelinda
- Têtu Bernard
- Unterberg Andreas
- Urba Walter
- Valdivieso Federico
- Van Bang Nguyen
- Van Den Berg David J.
- van Kessel Kim E.
- Van Meir Erwin G.
- Van Tine Brian
- Vandenberg Scott
- Veluvolu Umadevi
- Vicha Ales
- Vidal Daniel O.
- Vocke Cathy D.
- Voet Doug
- von Deimling Andreas
- Voronina Olga
- Wach Sven
- Wakely Paul
- Waldmann Jens
- Walker Joan
- Wan Yunhu
- Wang Jing
- Wang Jioajiao
- Wang Linghua
- Wang Min
- Wang Timothy
- Wang Yumeng
- Wang Zhining
- Warnick Ronald
- Weinstein John N.
- Weisenberger Daniel J.
- Wentzensen Nicolas
- Westervelt Peter
- Wheeler David A.
- Wilkerson Matthew D.
- Williams Felicia
- Wilmott James
- Wilson Richard K.
- Wise Lisa
- Wistuba Ignacio
- Wiznerowicz Maciej
- Wolf Gregory
- Wolinsky Yingli
- Wong Christopher K.
- Wong Tina
- Worrell Robert
- Wu Ye
- Wullich Bernd
- Xi Liu
- Yang Hannah
- Yang Ian
- Yang Ju Dong
- Yang Liming
- Yao Fan
- Yau Christina
- Yena Peggy
- Zach Leigh Anne
- Zaren Howard
- Zelinka Tomas
- Zenklusen Jean C.
- Zhang Hailei
- Zhang Hongxin
- Zhang Hongzheng
- Zhang Huiwen
- Zhang Jiashan (Julia)
- Zhang Jiexin
- Zhang Lizhi
- Zhang Wei
- Zhao Fengmei
- Zhou Wanding
- Zmuda Erik
- Zuna Rosemary
- Zwarthoff Ellen C.
- Publication venue
- 'Elsevier BV'
- Publication date
- 01/01/2018
- Field of study
Protein ubiquitination is a dynamic and reversibleprocess of adding single ubiquitin molecules orvarious ubiquitin chains to target proteins. Here,using multidimensional omic data of 9,125 tumorsamples across 33 cancer types from The CancerGenome Atlas, we perform comprehensive molecu-lar characterization of 929 ubiquitin-related genesand 95 deubiquitinase genes. Among them, we sys-tematically identify top somatic driver candidates,including mutatedFBXW7with cancer-type-specificpatterns and amplifiedMDM2showing a mutuallyexclusive pattern withBRAFmutations. Ubiquitinpathway genes tend to be upregulated in cancermediated by diverse mechanisms. By integratingpan-cancer multiomic data, we identify a group oftumor samples that exhibit worse prognosis. Thesesamples are consistently associated with the upre-gulation of cell-cycle and DNA repair pathways, char-acterized by mutatedTP53,MYC/TERTamplifica-tion, andAPC/PTENdeletion. Our analysishighlights the importance of the ubiquitin pathwayin cancer development and lays a foundation fordeveloping relevant therapeutic strategies
Finishing the euchromatic sequence of the human genome
- Author
- . Haifeng
- . Magner
- . Yin
- Abbott Scott
- Abbott-Ozersky Amanda
- Abdellah Zahra
- Abouelleil Amr
- Abrajano Anne
- Adachi Tamami
- Adam Catherine
- Adams Charles Q.
- Adamson Aaron
- Adekoya Emmanuel
- Adio-Oduola Babajide
- Aerts Andrea
- Aggarwal Arun
- Ahmadi Alireza
- Ahmed Shahana
- Aimable Matthew
- Ainscough Rachael
- Ait-Zahra Mostafa
- Aizu Tomoyuki
- Alcivare Dana
- Alegria Michelle
- Ali Alla
- Ali Johar
- Allegria-hartmann Michelle
- Alleman Jennifer
- Allen Carlana C.
- Allen Heather
- Allen Nicole R.
- Allen Susan
- Allen Thaddeus
- Almeida Jeff
- Almond Claire
- Alsbrooks Stephen L.
- Altherr Michael R.
- Amaratunge Harshinie C.
- Ambler Andrew
- Ambrose Karen
- Ambrose Kerrie
- Amemiya Chris
- Amico-Keller Gina
- Amin Amita G.
- Anderson Mechele
- Anderson Scott
- Anderson Scott
- Andora Janice
- Andredesz Carol
- Andrew Robert
- Andrews Dan
- Andrews Daniel
- Andrews Neil
- Andrews Stephanie
- Andriese Tim
- Anthouard Véronique
- Antonarakis Stylianos E.
- Anyalebechi Vivian
- Aoki Norie
- Apostolou Sinoula
- Apweiler Eva
- Arachchi Harindra
- Arai Rie
- Arbery Hazel
- Arcaina Marlon
- Arcaina Terisita
- Archer Beth
- Arellano Andre
- Arellano-Jones Perry
- Armbruster Jeff
- Armstrong Jon
- Arredondo Dilrukshi P.
- Arredondo Heather Hope
- Artiguenave François
- Asakawa Shuichi
- Asakawa Teruyo
- Ash Gareth
- Ashcroft Kevin
- Ashurst Jennifer
- Ashwell Robert
- Ashworth Linda K.
- Aslanidis Cara
- Asomugha Chinwe O.
- Asuncion Lawreen
- Atkin Deborah
- Atkinson Andrea
- Atkinson Barry
- Attix Cristina
- Attwood John
- Aubin Keith
- Auger Katherine
- Austin Shannon Michelle
- Avila Aaron
- Avis Terry
- Ayele Mulu
- Babayan Primo
- Babbage Anne
- Babbage Sarah
- Bach Phil
- Bachatsang Pasang
- Bacon Joanne
- Badri Hummy
- Baertsch Robert
- Bagguley Claire
- Bailey Jonathan
- Bajorek Eva
- Baker Andrew
- Baker Dan
- Baker M.
- Baker Richard
- Bakis Michele
- Baldwin Jennifer
- Banda Michael
- Banerjee Ruby
- Bao Jingyue
- Bao Qiyu
- Bao Weidong
- Bao Weidong
- Baptiste Pertrice
- Barbaria Joseph A.
- Barbe Valérie
- Bardill Simon
- Barker Daniel
- Barker Darren
- Barker Gary
- Barlow Karen
- Baron Laurent
- Barrett Anika
- Bartlett Rebecca
- Basham Victoria
- Bashman David
- Basu Suba
- Bateman Alex
- Bates Karen
- Battles John
- Batzer Mark
- Baumgart Cornelia
- Baumohl Jason
- Baynes Caroline
- Bayul Tashi
- Beall Keith
- Beard Lisa
- Beard Susan
- Beare David
- Beasley Alastair
- Beasley Helen
- Beasley Oliver
- Beaucham Leslie
- Beaudet Arthur
- Beck Alfred
- Beck Stephen
- Becker Michael
- Bell Emma
- Bell George I.
- Bellard Terell M.
- Bellerby Damian
- Bellerby Tristram
- Belter Edward A., Jr.
- Bemrose Richard
- Benard Michael Anthony
- BenKahla Alia
- Benke J
- Benner William
- Bennett James
- Bensasson Douda
- Bentley Andrew
- Bentley Dan
- Bentley David
- Berardinis Véronique de
- Bercovitz John
- Berghoff Amy
- Bergmann Anne
- Berkowicz Nicolas
- Berks Mary
- Berks Michael
- Bethel Graeme
- Beugelsdijk Tony J.
- Bhakta Rita
- Bhuchar Venita
- Bi Shihua
- Bian Xuemeng
- Bieri Tamberlyn
- Bimage Kesha E.
- Bird Christine
- Birditt Brian
- Birney Ewan
- Birney Ewan
- Birren Bruce
- Bissell Helen
- Biswalo Kaneza
- Bituin Aleksandr
- Black Stacey
- Blackburne-Maze Suzanne
- Blair Jessica Anne
- Blakey Sarah
- Blanks Tia
- Blasiar Darin
- Blazej Robert
- Blitshsteyn Berta
- Blomstrom David B.
- Bloom Scott
- Bloom Toby
- Blumer Heather
- Blye Jason
- Blyth Peter R.
- Blöcker Helmut
- Boatright Elizabeth
- Boehm John
- Boen Juanan
- Boguslavskiy Leonid
- Bolton Christel
- Bolund Lars
- Bondoc Marnel
- Bonfield James
- Bonnett Ralph
- Bonnin David
- Border Richard
- Borowsky Mark
- Borzym Katja
- Boukhgalter Boris
- Bowen Eric
- Bradley Amanda
- Bradshaw-Cordum Holly
- Brady Nicola
- Brandriff Brigitte F.
- Brannon Wade
- Branscomb Elbert
- Bray Jason
- Bray-Allen Sarah
- Brettin Thomas
- Bridgeman Anne
- Bridgers Michael
- Brimhall Angela K.
- Brokstein Peter
- Brook Jonathan
- Brooking Shane
- Brottier Philippe
- Brown Andrew
- Brown Clive
- Brown Jacqui
- Brown Margaret
- Brown Mary
- Brown Mary J.
- Brown Michael
- Brown Nancy C.
- Bruce David D.
- Bruce Robert
- Bruno William J.
- Bruskiewich Richard
- Bryant Jackie
- Bryant Jennifer E.
- Bryant Nathaniel P.
- Brüls Thomas
- Buatsi Delali
- Buck David
- Buckingham Judith M.
- Buckle Veronica
- Buczek Donald
- Budd Claire
- Buhay Christian J.
- Bulbul Kerem
- Buller Sarah
- Bunker Nathan
- Burberry Jill
- Burch Paula Ellen
- Burford Deborah
- Burgess Joanne
- Burgin Matt
- Burkett Carrie E.
- Burkhart-Schultz Karolyn
- Burrell Kevin L.
- Burrill Wayne
- Burrows Christine
- Burton Christine
- Burton John
- Butcher Phil
- Butler Adam
- Butler Jon
- Butler Paul
- Caenepeel Sean
- Cahill Patrick
- Cai Tianjing
- Cai Zhen
- Cairns Murray
- Calderon Eliana
- Callen David F.
- Camarata Jody
- Camire David
- Camm Nick
- Campbell Christopher
- Campbell Connie S.
- Campbell Evelyn W.
- Campbell Mary I.
- Campbell Mary L.
- Campo Kevin
- Canning Bruno
- Cao Ting
- Cao Yuzhu
- Caoile Chenier
- Cardenas Faviola
- Cardenas Lolo
- Cardenas Veronica
- Carder Carol
- Carder Paul
- Carpenter Kelly
- Carrano Anthony V.
- Carriere Jason
- Carter Jason
- Carter Kelvin
- Carter Nigel
- Caruso Lauren
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- Meier Elke
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- Zhu Genfeng
- Zhu Genfeng
- Zhu Miao
- Zhu Ning
- Zhu Yongge
- Zhu Zhen
- Zhuang Shitao
- Zierten Deborah
- Zimmer Andrew
- Zody Michael C.
- Zollo Massimo
- Zorrilla Sara E.
- Zuo Lin
- Publication venue
- LSU Digital Commons
- Publication date
- 21/10/2004
- Field of study
The sequence of the human genome encodes the genetic instructions for human physiology, as well as rich information about human evolution. In 2001, the International Human Genome Sequencing Consortium reported a draft sequence of the euchromatic portion of the human genome. Since then, the international collaboration has worked to convert this draft into a genome sequence with high accuracy and nearly complete coverage. Here, we report the result of this finishing process. The current genome sequence (Build 35) contains 2.85 billion nucleotides interrupted by only 341 gaps. It covers ∼99% of the euchromatic genome and is accurate to an error rate of ∼1 event per 100,000 bases. Many of the remaining euchromatic gaps are associated with segmental duplications and will require focused work with new methods. The near-complete sequence, the first for a vertebrate, greatly improves the precision of biological analyses of the human genome including studies of gene number, birth and death. Notably, the human enome seems to encode only 20,000-25,000 protein-coding genes. The genome sequence reported here should serve as a firm foundation for biomedical research in the decades ahead
The James Webb Space Telescope Mission
- Author
- Abbott Randy
- Abell James S.
- Abernathy Mark
- Abney Faith E.
- Abraham John G.
- Abraham Roberto
- Abul-Huda Yasin M.
- Acton Scott
- Adams Cynthia K.
- Adams Evan
- Adler David S.
- Adriaensen Maarten
- Aguilar Jonathan Albert
- Ahmed Mansoor
- Ahmed Nasif S.
- Ahmed Tanjira
- Alarcon Rafael Ramos
- Albat Rüdeger
- Albert Loïc
- Alberts Stacey
- Aldridge David
- Allen Mary Marsha
- Allen Shaune S.
- Altenburg Martin
- Altunc Serhat
- Alvarez Jose Lorenzo
- Ambrose Leslie L.
- Anandakrishnan Satya M.
- Andersen Gregory C.
- Anderson Harry James
- Anderson Jay
- Anderson Kristen
- Anderson Sara M.
- Aprea Julio
- Archer Benita J.
- Arenberg Jonathan W.
- Argyriou Ioannis
- Arribas Santiago
- Artigau Étienne
- Arvai Amanda Rose
- Atcheson Paul
- Atkinson Charles B.
- Averbukh Jesse
- Aymergen Cagatay
- Bacinski John J.
- Baggett Wayne E.
- Bagnasco Giorgio
- Baker Lynn L.
- Balzano Vicki Ann
- Banks Kimberly A.
- Baran David A.
- Barker Elizabeth A.
- Barrett Larry K.
- Barringer Bruce O.
- Barto Allison
- Bast William
- Baudoz Pierre
- Baum Stefi
- Beatty Thomas G.
- Beaulieu Mathilde
- Bechtold Kathryn
- Beck Tracy
- Beddard Megan M.
- Beichman Charles
- Bellagama Larry
- Bely Pierre
- Berger Timothy W.
- Bergeron Louis E.
- Bertch Maria D.
- Beskow Charlotte
- Betz Laura E.
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- Birkmann Stephan
- Bjorklund Kurt F.
- Blackwood James D.
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- Zonak Stephanie
- Zondag Elisabeth
- Álvarez-Márquez Javier
- Östlin Göran
- Publication venue
- Publication date
- 10/04/2023
- Field of study
Twenty-six years ago a small committee report, building on earlier studies,
expounded a compelling and poetic vision for the future of astronomy, calling
for an infrared-optimized space telescope with an aperture of at least 4m.
With the support of their governments in the US, Europe, and Canada, 20,000
people realized that vision as the 6.5m James Webb Space Telescope. A
generation of astronomers will celebrate their accomplishments for the life of
the mission, potentially as long as 20 years, and beyond. This report and the
scientific discoveries that follow are extended thank-you notes to the 20,000
team members. The telescope is working perfectly, with much better image
quality than expected. In this and accompanying papers, we give a brief
history, describe the observatory, outline its objectives and current observing
program, and discuss the inventions and people who made it possible. We cite
detailed reports on the design and the measured performance on orbit.Comment: Accepted by PASP for the special issue on The James Webb Space
Telescope Overview, 29 pages, 4 figure
Genetic mechanisms of critical illness in COVID-19.
- Author
- A A Roger Thompson
- A Abraheem
- A Agasou
- A Ahmed
- A Ali
- A Allan
- A Altabaibeh
- A Alvaro
- A Aspinwall
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- Renzo Scaggiante
- Richard Clark
- Richard S Tedder
- Richmond Anne
- Riinu Pius
- Rita Perna
- Roberta Russo
- Ross Hendry
- Rossella Tita
- Rowan Kathy
- Russell Clark D
- Ruth Armstrong
- Ruth Lyons
- Ryan S Thwaites
- S Agrawal
- S Allen
- S Allibone
- S Anderson
- S Archer
- S Bano
- S Bean
- S Beavis
- S Bell
- S Bennett
- S Benyon
- S Bird
- S Blowes
- S Board
- S Bonner
- S Brett
- S Buckley
- S Campos
- S Cathcart
- S Chapman
- S Charlton
- S Cherian
- S Chukkambotla
- S Clamp
- S Clark
- S Clements
- S Coetzee
- S Cole
- S Cornell
- S Cutler
- S Dale
- S Donlon
- S Farnell-Ward
- S Fowler
- S Garrioch
- S Gibson
- S Gopal
- S Greer
- S Gurung Rai
- S Henderson
- S Hierons
- S Hope
- S Humphreys
- S Hussain
- S Jenkins
- S Jhanji
- S Jones
- S Jose
- S Joseph
- S Kaul
- S Keenan
- S Keith
- S Kennedy-Hay
- S Kimber
- S Kumar
- S Laha
- S Latham
- S Leaver
- S Lee
- S Leggett
- S MacFadyen
- S Manna
- S Marriott
- S Masuko
- S McIvor
- S McKechnie
- S Melling
- S Mellor
- S Mepham
- S Metherell
- S Mitchard
- S Mohamed Ally
- S Monnery
- S Moore
- S Morrison
- S Moultrie
- S Mtuwa
- S Mulla
- S Munt
- S Murdoch
- S O'Sullivan
- S Packham
- S Patch
- S Pearson
- S Pitts
- S Preston
- S Purvis
- S Quaid
- S Ray
- S Roche
- S Rose
- S Rundell
- S Salmi
- S Sathe
- S Selvanayagam
- S Shelton
- S Shepardson
- S Siddiqui
- S Smuts
- S Sousa Arias
- S Spencer
- S Srikaran
- S Stone
- S Swann
- S Tilbey
- S Turki
- S Turney
- S Twiss
- S Wadd
- S Whiteley
- S Williams
- S Wood
- S Yussuf
- Sabino Scolletta
- Samreen Ijaz
- Sandro Mancarella
- Sandro Panese
- Sara Amitrano
- Sara McDonald
- Sarah Law
- Sarah McCafferty
- Saverio Giuseppe Parisi
- Saye Khoo
- Scott Richard
- Semple Malcolm G
- Serafina Valente
- Serena Ludovisi
- Sergio Daga
- Seán Keating
- Shankar-Hari Manu
- Shen Xia
- Shih Barbara
- Shiranee Sriskandan
- Shona C Moore
- Silvia Cappelli
- Simona Marcantonio
- Simone Furini
- Sophie Halpin
- Sophie Venturelli
- Stefania Mantovani
- Stefano Baratti
- Stefano Ceri
- Stefano Rusconi
- Stella Aslibekyan
- Stephanie Roberts
- Stephen R Knight
- Summers Charlotte
- Susanna Croci
- Susanna Guerrini
- T Anderson
- T Arden
- T Baird
- T Behan
- T Bemand
- T Cosier
- T Coventry
- T Duncan
- T Felton
- T Geary
- T Hazleton
- T Joefield
- T Kannan
- T Lawton
- T Marsden
- T Martin
- T McHugh
- T Newman
- T Nortcliffe
- T O Jones
- T Pogreban
- T Rees
- T Samakomva
- T Smith
- T Smith
- T Szakmany
- T Varghes
- T Williams
- T Wood
- Tammy Gilchrist
- Tenesa Albert
- Teresa Filshtein-Sonmez
- Thomas M Drake
- Thushan de Silva
- Tim Walsh
- Tom Fletcher
- Tom Solomon
- Tony Wackett
- Trevor Paterson
- Tullio Trotta
- Turtle Lance
- U Poultney
- V Amin
- V Anumakonda
- V Bastion
- V Cannons
- V Crickmore
- V Gopal
- V Irvine
- V Kasipandian
- V Krishnamurthy
- V Lake
- V Linnett
- V Martinson
- V Nagarajan
- V Page
- V Parris
- V Parris
- V Pristopan
- V Ratnam
- V Rivers
- V Sarathy
- V Thomas
- V Thwaites
- V Tuckey
- V Turner
- V Wagstaff
- V Waugh
- Valentina Anemoli
- Vanessa Sancho-Shimizu
- Victoria Shaw
- Vitart Veronique
- W Harrison
- W Khaliq
- W Khaliq
- W McCormick
- W Woodyatt
- Walker Susan
- Walsh Timothy
- Wang Bo
- Wei Shen Lim
- Wendy S Barclay
- William A Paxton
- William Greenhalf
- Wilson James F
- Wrobel Nicola
- Wu Yang
- X Qiu
- Y Baird
- Y Choudhury
- Y Hussain
- Y Jackson
- Y Thirlwall
- Yang Jian
- Yang Zhijian
- Z Alldis
- Z Belagodu
- Z Bradshaw
- Z Coton
- Z Daly
- Z Farzad
- Z Fernandez
- Z Garland
- Z Maqsood
- Z Omar
- Z Prime
- Z Scott
- Zechner Marie
- Zhai Ranran
- Zheng Chenqing
- Publication venue
- Nature
- Publication date
- 01/01/2020
- Field of study
Host-mediated lung inflammation is present1, and drives mortality2, in the critical illness caused by coronavirus disease 2019 (COVID-19). Host genetic variants associated with critical illness may identify mechanistic targets for therapeutic development3. Here we report the results of the GenOMICC (Genetics Of Mortality In Critical Care) genome-wide association study in 2,244 critically ill patients with COVID-19 from 208 UK intensive care units. We have identified and replicated the following new genome-wide significant associations: on chromosome 12q24.13 (rs10735079, P = 1.65 × 10-8) in a gene cluster that encodes antiviral restriction enzyme activators (OAS1, OAS2 and OAS3); on chromosome 19p13.2 (rs74956615, P = 2.3 × 10-8) near the gene that encodes tyrosine kinase 2 (TYK2); on chromosome 19p13.3 (rs2109069, P = 3.98 × 10-12) within the gene that encodes dipeptidyl peptidase 9 (DPP9); and on chromosome 21q22.1 (rs2236757, P = 4.99 × 10-8) in the interferon receptor gene IFNAR2. We identified potential targets for repurposing of licensed medications: using Mendelian randomization, we found evidence that low expression of IFNAR2, or high expression of TYK2, are associated with life-threatening disease; and transcriptome-wide association in lung tissue revealed that high expression of the monocyte-macrophage chemotactic receptor CCR2 is associated with severe COVID-19. Our results identify robust genetic signals relating to key host antiviral defence mechanisms and mediators of inflammatory organ damage in COVID-19. Both mechanisms may be amenable to targeted treatment with existing drugs. However, large-scale randomized clinical trials will be essential before any change to clinical practice
Multiplatform Analysis of 12 Cancer Types Reveals Molecular Classification within and across Tissues of Origin
- Author
- Abbott Rachel
- Abbott Scott
- Akbani Rehan
- Aksoy B. Arman
- Aldape Kenneth
- Ally Adrian
- Amin Samirkumar
- Anastassiou Dimitris
- Auman J. Todd
- Baggerly Keith A.
- Balasundaram Miruna
- Balu Saianand
- Baylin Stephen B.
- Benz Christopher C.
- Benz Stephen C.
- Berman Benjamin P.
- Bernard Brady
- Bhatt Ami S.
- Birol Inanc
- Black Aaron D.
- Bodenheimer Tom
- Bootwalla Moiz S.
- Bowen Jay
- Bressler Ryan
- Bristow Christopher A.
- Brooks Angela N.
- Broom Bradley
- Buda Elizabeth
- Burton Robert
- Butterfield Yaron S.N.
- Byers Lauren A.
- Carlin Daniel
- Carter Scott L.
- Casasent Tod D.
- Chang Kyle
- Chanock Stephen
- Chen Zhong
- Cherniack Andrew D.
- Chin Lynda
- Cho Dong Yeon
- Cho Juok
- Chu Andy
- Chuah Eric
- Chun Hye Jung E.
- Cibulskis Kristian
- Ciriello Giovanni
- Cleland James
- Cline Melisssa
- Collisson Eric A.
- Craft Brian
- Creighton Chad J.
- Danilova Ludmila
- Davidsen Tanja
- Davis Caleb
- Dees Nathan D.
- Delehaunty Kim
- Demchok John A.
- Dhalla Noreen
- DiCara Daniel
- Ding Li
- Dinh Huyen
- Dobson Jason R.
- Dodda Deepti
- Doddapaneni Harsha Vardhan
- Donehower Lawrence
- Dooling David J.
- Dresdner Gideon
- Drummond Jennifer
- Eakin Andrea
- Edgerton Mary
- Eldred Jim M.
- Eley Greg
- Ellrott Kyle
- Fan Cheng
- Fei Suzanne
- Felau Ina
- Frazer Scott
- Freeman Samuel S.
- Frick Jessica
- Fronick Catrina C.
- Fulton Lucinda L.
- Fulton Robert
- Gabriel Stacey B.
- Gao Jianjiong
- Gastier-Foster Julie M.
- Gehlenborg Nils
- George Myra
- Getz Gad
- Gibbs Richard
- Goldman Mary
- Gonzalez-Perez Abel
- Gross Benjamin
- Guin Ranabir
- Gunaratne Preethi
- Hadjipanayis Angela
- Hamilton Mark P.
- Hamilton Stanley R.
- Han Leng
- Han Yi
- Harper Hollie A.
- Haseley Psalm
- Haussler David
- Hayes D. Neil
- Heiman David I.
- Helman Elena
- Helsel Carmen
- Herbrich Shelley M.
- Herman James G.
- Hinoue Toshinori
- Hirst Carrie
- Hirst Martin
- Hoadley Katherine A.
- Holt Robert A.
- Hoyle Alan P.
- Iype Lisa
- Jacobsen Anders
- Jeffreys Stuart R.
- Jensen Mark A.
- Jones Corbin D.
- Jones Steven J.M.
- Ju Zhenlin
- Jung Joonil
- Kahles Andre
- Kahn Ari
- Kalicki-Veizer Joelle
- Kalra Divya
- Kanchi Krishna Latha
- Kandoth Cyriac
- Kane David W.
- Kim Hoon
- Kim Jaegil
- Knijnenburg Theo
- Koboldt Daniel C.
- Kovar Christie
- Kramer Roger
- Kreisberg Richard
- Kucherlapati Raju
- Ladanyi Marc
- Laird Peter W.
- Lander Eric S.
- Larson David E.
- Lawrence Michael S.
- Lee Darlene
- Lee Eunjung
- Lee Semin
- Lee William
- Lehmann Kjong Van
- Leinonen Kalle
- Leiserson Max D.M.
- Leraas Kristen M.
- Lerner Seth
- Levine Douglas A.
- Lewis Lora
- Ley Timothy J.
- Li Haiyan I.
- Li Jun
- Li Wei
- Liang Han
- Lichtenberg Tara M.
- Lin Jake
- Lin Ling
- Lin Pei
- Liu Wenbin
- Liu Yingchun
- Liu Yuexin
- Lopez-Bigas Nuria
- Lorenzi Philip L.
- Lu Charles
- Lu Yiling
- Luquette Lovelace J.
- Ma Singer
- Magrini Vincent J.
- Mahadeshwar Harshad S.
- Mardis Elaine R.
- Margolin Adam A.
- Marra Marco A.
- Mayo Michael
- McAllister Cynthia
- McGuire Sean E.
- McLellan Michael D.
- McMichael Joshua F.
- Melott James
- Meng Shaowu
- Meyerson Matthew
- Mieczkowski Piotr A.
- Miller Christopher A.
- Miller Martin L.
- Miller Michael
- Mills Gordon B.
- Moore Richard A.
- Morgan Margaret
- Morton Donna
- Mose Lisle E.
- Mungall Andrew J.
- Muzny Donna
- Ng Sam
- Nguyen Lam
- Niu Beifang
- Noble Michael S.
- Noushmehr Houtan
- O'Laughlin Michelle
- Ojesina Akinyemi I.
- Omberg Larsson
- Ozenberger Brad
- Pantazi Angeliki
- Parfenov Michael
- Park Peter J.
- Parker Joel S.
- Paull Evan
- Pedamallu Chandra Sekhar
- Perou Charles M.
- Pihl Todd
- Pohl Craig
- Pot David
- Protopopov Alexei
- Przytycka Teresa
- Radenbaugh Amie
- Ramirez Nilsa C.
- Ramirez Ricardo
- Raphael Benjamin J.
- Reid Jeffrey
- Ren Xiaojia
- Reva Boris
- Reynolds Sheila M.
- Rhie Suhn K.
- Roach Jeffrey
- Robertson A. Gordon
- Rovira Hector
- Ryan Michael
- Rätsch Gunnar
- Saksena Gordon
- Salama Sofie
- Sander Chris
- Santoso Netty
- Schein Jacqueline E.
- Schmidt Heather
- Schultz Nikolaus
- Schumacher Steven E.
- Seidman Jonathan
- Senbabaoglu Yasin
- Seth Sahil
- Sharpe Samantha
- Shen Hui
- Shen Ronglai
- Sheth Margi
- Shi Yan
- Shmulevich Ilya
- Silva Grace O.
- Simons Janae V.
- Sinha Rileen
- Sipahimalani Payal
- Smith Scott M.
- Sofia Heidi J.
- Sokolov Artem
- Soloway Mathew G.
- Song Xingzhi
- Sougnez Carrie
- Spellman Paul
- Staudt Louis
- Stewart Chip
- Stojanov Petar
- Stuart Joshua M.
- Su Xiaoping
- Sumer S. Onur
- Sun Yichao
- Swatloski Teresa
- Tabak Barbara
- Tam Angela
- Tamborero David
- Tan Donghui
- Tang Jiabin
- Tarnuzzer Roy
- Taylor Barry S.
- Thiessen Nina
- Thorsson Vesteinn
- Triche Timothy
- Uzunangelov Vladislav
- Van Den Berg David J.
- Van Waes Carter
- Van't Veer Laura J.
- Vandin Fabio
- Varhol Richard J.
- Vaske Charles J.
- Veluvolu Umadevi
- Verhaak Roeland
- Voet Doug
- Walker Jason
- Wallis John W.
- Waltman Peter
- Wan Yunhu
- Wang Min
- Wang Wenyi
- Wang Zhining
- Waring Scot
- Weinhold Nils
- Weinstein John N.
- Weisenberger Daniel J.
- Wendl Michael C.
- Wheeler David
- Wilkerson Matthew D.
- Wilson Richard K.
- Wise Lisa
- Wolf Denise M.
- Wong Andrew
- Wu Chang Jiun
- Wu Chia Chin
- Wu Hsin Ta
- Wu Junyuan
- Wylie Todd
- Xi Liu
- Xi Ruibin
- Xia Zheng
- Xu Andrew W.
- Yang Da
- Yang Liming
- Yang Lixing
- Yang Tai Hsien Ou
- Yang Yang
- Yao Jun
- Yao Rong
- Yau Christina
- Ye Kai
- Yoshihara Kosuke
- Yuan Yuan
- Yung Alfred K.
- Zack Travis
- Zeng Dong
- Zenklusen Jean Claude
- Zhang Hailei
- Zhang Jianhua
- Zhang Jiashan
- Zhang Nianxiang
- Zhang Qunyuan
- Zhang Wei
- Zhao Wei
- Zheng Siyuan
- Zhu Jing
- Zmuda Erik
- Zou Lihua
- Publication venue
- Publication date
- 01/01/2014
- Field of study
Recent genomic analyses of pathologically-defined tumor types identify “within-a-tissue” disease subtypes. However, the extent to which genomic signatures are shared across tissues is still unclear. We performed an integrative analysis using five genome-wide platforms and one proteomic platform on 3,527 specimens from 12 cancer types, revealing a unified classification into 11 major subtypes. Five subtypes were nearly identical to their tissue-of-origin counterparts, but several distinct cancer types were found to converge into common subtypes. Lung squamous, head & neck, and a subset of bladder cancers coalesced into one subtype typified by TP53 alterations, TP63 amplifications, and high expression of immune and proliferation pathway genes. Of note, bladder cancers split into three pan-cancer subtypes. The multi-platform classification, while correlated with tissue-of-origin, provides independent information for predicting clinical outcomes. All datasets are available for data-mining from a unified resource to support further biological discoveries and insights into novel therapeutic strategies
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
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- Vincenzo Corbo
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- W Kimryn Rathmell
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- Wan Choi
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- Wang Liang-Bo
- Weerasinghe Amila
- Wei Jiao
- Wendl Michael C
- Wenyi Wang
- Wenyi Wang
- Wenyi Wang
- Wheeler David A
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- William C Faquin
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- 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
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- Ball Stephen G.
- Balmforth Anthony J.
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- Tsagarelis Constantina
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- Törkvist Leif
- Ublick Kullak
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- Van Limbergen Johan
- Van Steen Kristel
- Vatn Morten H.
- Vermeire Severine
- Viswanathan Ananth C.
- Vukcevic Damjan
- Wain Louise V.
- Wainrib Gilles
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- Woodburn Matthew
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- Worthington Jane
- Yau Chris
- Young Allan H.
- Zeggini Eleftheria
- Zhang Clarence
- Zhang Hu
- Zhang Wei
- Zhao Hongyu
- Publication venue
- Scientific Reports
- Publication date
- 17/07/2020
- Field of study
Abstract: Crohn Disease (CD) is a complex genetic disorder for which more than 140 genes have been identified using genome wide association studies (GWAS). However, the genetic architecture of the trait remains largely unknown. The recent development of machine learning (ML) approaches incited us to apply them to classify healthy and diseased people according to their genomic information. The Immunochip dataset containing 18,227 CD patients and 34,050 healthy controls enrolled and genotyped by the international Inflammatory Bowel Disease genetic consortium (IIBDGC) has been re-analyzed using a set of ML methods: penalized logistic regression (LR), gradient boosted trees (GBT) and artificial neural networks (NN). The main score used to compare the methods was the Area Under the ROC Curve (AUC) statistics. The impact of quality control (QC), imputing and coding methods on LR results showed that QC methods and imputation of missing genotypes may artificially increase the scores. At the opposite, neither the patient/control ratio nor marker preselection or coding strategies significantly affected the results. LR methods, including Lasso, Ridge and ElasticNet provided similar results with a maximum AUC of 0.80. GBT methods like XGBoost, LightGBM and CatBoost, together with dense NN with one or more hidden layers, provided similar AUC values, suggesting limited epistatic effects in the genetic architecture of the trait. ML methods detected near all the genetic variants previously identified by GWAS among the best predictors plus additional predictors with lower effects. The robustness and complementarity of the different methods are also studied. Compared to LR, non-linear models such as GBT or NN may provide robust complementary approaches to identify and classify genetic markers
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
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- Anne-Lise Børresen-Dale
- Annegien Broeks
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- Anthony J Gill
- Anthony Ng
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- Aparna Prasad
- Apurva M Hegde
- Aquila Fatima
- Arcadi Navarro
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- Armando Lopez-Guillermo
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- Arnoud Boot
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- Axel Aretz
- Aya Sasaki-Oku
- Ayellet V Segre
- B F Francis Ouellette
- Bailey Matthew H
- Barbara Hutter
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- Vincenzo Corbo
- Vishal S Chandan
- Volker Hovestadt
- W Kimryn Rathmell
- W M Linehan
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- Wan Choi
- Wanding Zhou
- Wang Liang-Bo
- Weerasinghe Amila
- Wei Jiao
- Wendl Michael C
- Wenyi Wang
- Wenyi Wang
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- Wheeler David A
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- William Howat
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- Willie Yu
- Winghing Wong
- Wojciech Bazant
- Wolfgang Huber
- Wolfram Klapper
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- 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
- 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
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Retrospective evaluation of whole exome and genome mutation calls in 746 cancer samples
- Author
- Aaltonen Lauri A.
- Abascal Federico
- Abeshouse Adam
- Aburatani Hiroyuki
- Adams David J.
- Agrawal Nishant
- Ahn Keun Soo
- Ahn Sung-Min
- Aikata Hiroshi
- Akbani Rehan
- Akdemir Kadir C.
- Al-Ahmadie Hikmat
- Al-Sedairy Sultan T.
- Al-Shahrour Fatima
- Alawi Malik
- Albert Monique
- Aldape Kenneth
- Alexandrov Ludmil B.
- Ally Adrian
- Alsop Kathryn
- Alvarez Eva G.
- Amary Fernanda
- Amin Samirkumar B.
- Aminou Brice
- Ammerpohl Ole
- Anderson Matthew J.
- Ang Yeng
- Antonello Davide
- Anur Pavana
- Aparicio Samuel
- Appelbaum Elizabeth L.
- Arai Yasuhito
- Aretz Axel
- Arihiro Koji
- Ariizumi Shun-ichi
- Armenia Joshua
- Arnau Gisela Mir
- Arnould Laurent
- Asa Sylvia
- Assenov Yassen
- Atwal Gurnit
- Aukema Sietse
- Auman J. Todd
- Aure Miriam R.
- Awadalla Philip
- Aymerich Marta
- Bader Gary D.
- Baez-Ortega Adrian
- Bailey Matthew H.
- Bailey Peter J.
- Balasundaram Miruna
- Balu Saianand
- Bandopadhayay Pratiti
- Banks Rosamonde E.
- Barbi Stefano
- Barbour Andrew P.
- Barenboim Jonathan
- Barnholtz-Sloan Jill
- Barr Hugh
- Barrera Elisabet
- Bartlett John
- Bartolome Javier
- Bassi Claudio
- Bathe Oliver F.
- Baumhoer Daniel
- Bavi Prashant
- Baylin Stephen B.
- Bazant Wojciech
- Beardsmore Duncan
- Beck Timothy A.
- Behjati Sam
- Behren Andreas
- Bell Cindy
- Beltran Sergi
- Benz Christopher
- Berchuck Andrew
- Bergmann Anke K.
- Bergstrom Erik N.
- Berman Benjamin P.
- Berney Daniel M.
- Bernhart Stephan H.
- Beroukhim Rameen
- Berrios Mario
- Bersani Samantha
- Bertl Johanna
- Betancourt Miguel
- Bhandari Vinayak
- Bhosle Shriram G.
- Biankin Andrew V.
- Bieg Matthias
- Bigner Darell
- Bin Zhu
- Binder Hans
- Birney Ewan
- Birrer Michael
- Biswas Nidhan K.
- Bjerkehagen Bodil
- Bodenheimer Tom
- Boice Lori
- Bonizzato Giada
- Boot Arnoud
- Bootwalla Moiz S.
- Borg Ake
- Borkhardt Arndt
- Boroevich Keith A.
- Borozan Ivan
- Borst Christoph
- Bosenberg Marcus
- Bosio Mattia
- Boultwood Jacqueline
- Bourque Guillaume
- Boutros Paul C.
- Bova G. Steven
- Bowen David T.
- Bowlby Reanne
- Bowtell David D. L.
- Boyault Sandrine
- Boyce Rich
- Boyd Jeffrey
- Brazma Alvis
- Brennan Paul
- Brewer Daniel S.
- Brinkman Arie B.
- Bristow Robert G.
- Broaddus Russell R.
- Brock Jane E.
- Brock Malcolm
- Broeks Annegien
- Brooks Angela N.
- Brooks Denise
- Brors Benedikt
- Brunak Søren
- Bruxner Timothy J. C.
- Bruzos Alicia L.
- Buchanan Alex
- Buchhalter Ivo
- Buchholz Christiane
- Bullman Susan
- Burke Hazel
- Burkhardt Birgit
- Burns Kathleen H.
- Busanovich John
- Bustamante Carlos D.
- Butler Adam P.
- Butte Atul J.
- Byrne Niall J.
- Børresen-Dale Anne-Lise
- Caesar-Johnson Samantha J.
- Cafferkey Andy
- Cahill Declan
- Calabrese Claudia
- Caldas Carlos
- Calvo Fabien
- Camacho Niedzica
- Campbell Peter J.
- Campo Elias
- Cantù Cinzia
- Cao Shaolong
- Carey Thomas E.
- Carlevaro-Fita Joana
- Carlsen Rebecca
- Cataldo Ivana
- Cazzola Mario
- Cebon Jonathan
- Cerfolio Robert
- Chadwick Dianne E.
- Chakravarty Dimple
- Chalmers Don
- Chan Calvin Wing Yiu
- Chan Kin
- Chan-Seng-Yue Michelle
- Chandan Vishal S.
- Chang David K.
- Chanock Stephen J.
- Chantrill Lorraine A.
- Chateigner Aurélien
- Chatterjee Nilanjan
- Chayama Kazuaki
- Chen Hsiao-Wei
- Chen Jieming
- Chen Ken
- Chen Yiwen
- Chen Zhaohong
- Cherniack Andrew D.
- Chien Jeremy
- Chiew Yoke-Eng
- Chin Suet-Feung
- Chiotti Kami
- Cho Juok
- Cho Sunghoon
- Choi Jung Kyoon
- Choi Wan
- Chomienne Christine
- Chong Zechen
- Choo Su Pin
- Chou Angela
- Christ Angelika N.
- Christie Elizabeth L.
- Chuah Eric
- Cibulskis Carrie
- Cibulskis Kristian
- Cingarlini Sara
- Clapham Peter
- Claviez Alexander
- Cleary Sean
- Cloonan Nicole
- Cmero Marek
- Collins Colin C.
- Connor Ashton A.
- Cooke Susanna L.
- Cooper Colin S.
- Cope Leslie
- Corbo Vincenzo
- Cordes Matthew G.
- Cordner Stephen M.
- Cortés-Ciriano Isidro
- Covington Kyle
- Cowin Prue A.
- Craft Brian
- Craft David
- Creason Allison
- Creighton Chad J.
- Cun Yupeng
- Curley Erin
- Cutcutache Ioana
- Czajka Karolina
- Czerniak Bogdan
- Dagg Rebecca A.
- Danilova Ludmila
- Davi Maria Vittoria
- Davidson Natalie R.
- Davies Helen
- Davis Ian J.
- Davis-Dusenbery Brandi N.
- Dawson Kevin J.
- De Bono Johann S.
- De La Vega Francisco M.
- De Paoli-Iseppi Ricardo
- deFazio Anna
- Defreitas Timothy
- Dei Tos Angelo P.
- Delaneau Olivier
- Demchok John A.
- Demeulemeester Jonas
- Demidov German M.
- Demircioğlu Deniz
- Dennis Nening M.
- Denroche Robert E.
- Dentro Stefan C.
- Desai Nikita
- Deshpande Vikram
- Deshwar Amit G.
- Desmedt Christine
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- Yamaue Hiroki
- Yang Fan
- Yang Huanming
- Yang Jean Y.
- Yang Liming
- Yang Lixing
- Yang Shanlin
- Yang Tsun-Po
- Yang Yang
- Yao Xiaotong
- Yaspo Marie-Laure
- Yates Lucy
- Yau Christina
- Ye Chen
- Ye Kai
- Yellapantula Venkata D.
- Yoon Christopher J.
- Yoon Sung-Soo
- Yousif Fouad
- Yu Jun
- Yu Kaixian
- Yu Willie
- Yu Yingyan
- Yuan Ke
- Yuan Yuan
- Yuen Denis
- Yugawa Takashi
- Yung Christina K.
- Zaikova Olga
- Zamora Jorge
- Zapatka Marc
- Zenklusen Jean C.
- Zenz Thorsten
- Zeps Nikolajs
- Zhang Cheng-Zhong
- Zhang Fan
- Zhang Hailei
- Zhang Hongwei
- Zhang Hongxin
- Zhang Jiashan
- Zhang Jing
- Zhang Junjun
- Zhang Xiuqing
- Zhang Xuanping
- Zhang Yan
- Zhang Zemin
- Zhao Zhongming
- Zheng Liangtao
- Zheng Xiuqing
- Zhou Wanding
- Zhou Yong
- Zhu Hongtu
- Zhu Jingchun
- Zhu Shida
- Zou Lihua
- Zou Xueqing
- Publication venue
- Nature Communications
- Publication date
- 21/09/2020
- 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