32 research outputs found
Integrated Molecular Characterization of Uterine Carcinosarcoma
- Author
- Akbani Rehan
- Ally Adrian
- Auman J. Todd
- Balasundaram Miruna
- Balu Saianand
- Baylin Stephen B.
- Beroukhim Rameen
- Bodenheimer Tom
- Bogomolniy Faina
- Boice Lori
- Bootwalla Moiz S.
- Bowen Jay
- Bowlby Reanne
- Broaddus Russell
- Broaddus Russell R.
- Brooks Denise
- Carlsen Rebecca
- Cherniack Andrew D.
- Cho Juok
- Chuah Eric
- Chudamani Sudha
- Cibulskis Kristian
- Cline Melissa
- Dao Fanny
- David Mutch
- Demchok John A.
- Dhalla Noreen
- Dowdy Sean
- Felau Ina
- Ferguson Martin L.
- Frazer Scott
- Frick Jessica
- Gabriel Stacey
- Gastier-Foster Julie M.
- Gehlenborg Nils
- Gerken Mark
- Getz Gad
- Gupta Manaswi
- Haussler David
- Hayes D. Neil
- Heiman David I.
- Hess Julian
- Hoadley Katherine A.
- Hoffmann Robert
- Holt Robert A.
- Hoyle Alan P.
- Hu Xin
- Huang Mei
- Hutter Carolyn M.
- Jefferys Stuart R.
- Jones Corbin D.
- Jones Steven J.M.
- Kanchi Rupa S.
- Kandoth Cyriac
- Kasaian Katayoon
- Kerr Sarah
- Kim Jaegil
- Kucherlapati Raju
- Lai Phillip H.
- Laird Peter W.
- Lander Eric
- Lawrence Michael S.
- Lee Darlene
- Leraas Kristen M.
- Leshchiner Ignaty
- Levine Douglas A.
- Lichtenberg Tara M.
- Lin Pei
- Ling Shiyun
- Liu Jia
- Liu Wenbin
- Liu Yuexin
- Lolla Laxmi
- Lu Yiling
- Ma Yussanne
- Maglinte Dennis T.
- Marra Marco A.
- Mayo Michael
- Meng Shaowu
- Meyerson Matthew
- Mieczkowski Piotr A.
- Mills Gordon B.
- Moore Richard A.
- Mose Lisle E.
- Mungall Andrew J.
- Mungall Karen
- Murray Bradley A.
- Naresh Rashi
- Noble Michael S.
- Olvera Narciso
- Parker Joel S.
- Perou Amy H.
- Perou Charles M.
- Pihl Todd
- Radenbaugh Amie J.
- Ramirez Nilsa C.
- Rathmell W. Kimryn
- Roach Jeffrey
- Robertson A. Gordon
- Robertson Gordon
- Sadeghi Sara
- Saksena Gordon
- Salvesen Helga B.
- Schein Jacqueline E.
- Schumacher Steven E.
- Shen Hui
- Sheth Margi
- Shi Yan
- Shih Juliann
- Simons Janae V.
- Sipahimalani Payal
- Skelly Tara
- Sofia Heidi J.
- Soloway Matthew G.
- Soslow Robert A.
- Sougnez Carrie
- Stewart Chip
- Sun Charlie
- Tam Angela
- Tan Donghui
- Tarnuzzer Roy
- Thiessen Nina
- Thorne Leigh B.
- Tse Kane
- Tseng Jill
- Van Den Berg David J.
- Veluvolu Umadevi
- Verhaak Roel G.W.
- Voet Doug
- von Bismarck Amanda
- Walter Vonn
- Wan Yunhu
- Wang Chen
- Wang Zhining
- Weinstein John N.
- Weisenberger Daniel J.
- Wilkerson Matthew D.
- Winterhoff Boris
- Wise Lisa
- Wong Tina
- Wu Ye
- Yang Liming
- Zenklusen Jean C.
- Zhang Hailei
- Zhang Jiashan
- Zhang Jiashan (Julia)
- Zhang Wei
- Zhu Jing-chun
- Zmuda Erik
- Zuna Rosemary E.
- Publication venue
- Publication date
- 01/01/2017
- Field of study
SummaryWe performed genomic, epigenomic, transcriptomic, and proteomic characterizations of uterine carcinosarcomas (UCSs). Cohort samples had extensive copy-number alterations and highly recurrent somatic mutations. Frequent mutations were found in TP53, PTEN, PIK3CA, PPP2R1A, FBXW7, and KRAS, similar to endometrioid and serous uterine carcinomas. Transcriptome sequencing identified a strong epithelial-to-mesenchymal transition (EMT) gene signature in a subset of cases that was attributable to epigenetic alterations at microRNA promoters. The range of EMT scores in UCS was the largest among all tumor types studied via The Cancer Genome Atlas. UCSs shared proteomic features with gynecologic carcinomas and sarcomas with intermediate EMT features. Multiple somatic mutations and copy-number alterations in genes that are therapeutic targets were identified
Whole-genome sequencing reveals host factors underlying critical COVID-19
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- Adanini O.
- Adeleye O.
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- Stroud N.
- Stuart C.
- Stuckey A.
- Suardi C.
- Suarez J. C.
- Subramanian D.
- Subramanian G.
- Suchartlikitwong P.
- Suh N.
- Sukha A.
- Sukumaran A.
- Suliman B. A.
- Summers C.
- Summers J.
- Sumoy L.
- Sun Y. V.
- Sundar A.
- Sundaram R.
- Sutherland I.
- Sutherland S. -B.
- Suttichet T. B.
- Swain A.
- Sweeney L.
- Sweet K.
- Swets M.
- Symon L.
- Symons A.
- Szakmany T.
- Szoor-McElhinney H.
- Tabri J.
- Tacconi D.
- Tadi H. A.
- Tagliavini E.
- Tamm A.
- Tampsett R.
- Taneski F.
- Tanfoni M.
- Tang L.
- Tardif N.
- Tariq A.
- Tatham K. C.
- Tavares S.
- Tavecchia L.
- Taylor A.
- Taylor J.
- Taylor M.
- Taylor M.
- Tebbutt J.
- Templeton M.
- Tench H.
- Tenesa A.
- Tetla D.
- Texeira J.
- Thanasi M.
- Thankachen M.
- Thirlwall Y.
- Thirumaran M.
- Thomas A.
- Thomas A.
- Thomas B.
- Thomas E.
- Thomas H.
- Thomas J.
- Thomas M.
- Thomas R.
- Thomas V.
- Thomis L.
- Thompsom M.
- Thompson C.
- Thompson R.
- Thompson R. C.
- Thomson N.
- Thornton D.
- Thornton L.
- Thorpe C.
- Thrasyvoulou L.
- Thrush J.
- Thwaites V.
- Thys M.
- Tibke C.
- Tierney C.
- Tilbey S.
- Tilney E.
- Timlick E.
- Timmers P. H. J.
- Ting L.
- Tiseo G.
- Tita R.
- Tivenan H.
- Tobin M. D.
- Todd A.
- Todd L.
- Tolson M.
- Tomas A. L.
- Tommasi A.
- Tonks L.
- Torky M. S.
- Torrents D.
- Torvorapanit P.
- Tracy B.
- Trankiem A.
- Tranter H.
- Trembath R. C.
- Tridente A.
- Trim F.
- Trivedi B.
- Trodd D.
- Trogstad L. -I. S.
- Trotman S.
- Trotta T.
- Trower H.
- Truman N.
- Trumper E.
- Tsao P.
- Tselios C.
- Tsinaslanidis G.
- Tsuo K.
- Tucci A.
- Tuckey V.
- Tully R.
- Tumbarello M.
- Turki S.
- Turley P.
- Turnbull A.
- Turner K.
- Turner L.
- Turner P.
- Turner V.
- Turner-Bone I.
- Turney S.
- Turtle L.
- Tutton R.
- Twiss S.
- Tyl D.
- Tyler A.
- Uitterlinden A. G.
- Underwood S. J.
- Vaghi M.
- Vaida M.
- Valente S.
- Valentine J.
- Valentino F.
- van Blokland I.
- van Heel D. A.
- van Koutrik L.
- Varghese M.
- Vecchia M.
- Vedage D.
- Veerapen K.
- Venkatesh H.
- Venn L. D.
- Venturelli S.
- Vergori A.
- Verlander M.
- Verma A.
- Verma S. S.
- Vertue M.
- Verula J.
- Verzuri A.
- Vigurs C.
- Villalonga J. M.
- Vincent R.
- Vincenti A.
- Virgilio E.
- Vitart V.
- Vizcaychipi M. P.
- Vochin A.
- Voide C.
- von Frenckell C.
- von Hohenstaufen K. A.
- Vonk J. M.
- Vulesevic B.
- Vuylsteke A.
- Wackett T.
- Wadams B.
- Waddington N.
- Wagstaff V.
- Wain L. V.
- Waite A. A. C.
- Wakefield P.
- Wakinshaw F.
- Waldron J.
- Walker D.
- Walker R.
- Walker S.
- Walker S.
- Wall A.
- Walsh T.
- Walters R. K.
- Walton O.
- Wang B.
- Wang J.
- Wang X.
- Wanying Z.
- Ward G.
- Ward L.
- Ward M.
- Warden S.
- Warmerdam R.
- Warren D.
- Wassall H.
- Wasson C.
- Watkins C.
- Watson E.
- Watson G.
- Watson J.
- Watters M.
- Waugh V.
- Weaver J.
- Webster A.
- Webster D.
- Webster K.
- Wei S.
- Weiss S. T.
- Weldon C. H.
- Wells C.
- Welters I. D.
- Weston H.
- Whileman A.
- Whitbread J.
- White D.
- White I.
- White K.
- White M.
- White N.
- White N.
- Whiteley S.
- Whiteside J.
- Whittle H.
- Whitton C.
- Whyte C.
- Wicks S. J.
- Wilby E.
- Wilcox L.
- Wilcox R.
- Wild H.
- Wild L.
- Wiles M.
- Wilkins J.
- Wilkinson A.
- Wilkinson B.
- Willer C.
- Williams A.
- Williams A.
- Williams A.
- Williams A. T.
- Williams D.
- Williams E.
- Williams F.
- Williams G.
- Williams H.
- Williams K.
- Williams M.
- Williams P.
- Williams S.
- Williams T.
- Willis C.
- Willis H.
- Wills M.
- Willson J.
- Wilson A.
- Wilson D. J.
- Wilson J.
- Wilson J. F.
- Winnard S.
- Winter-Goodwin B.
- Wolf-Roberts R.
- Wolford B.
- Wong J.
- Wood D.
- Wood H. -L.
- Wood S.
- Wood T.
- Woodford C.
- Woodruff M.
- Woods L.
- Woodyatt W.
- Woolley A. E.
- Worner R.
- Worsley L.
- Wray G.
- Wren L.
- Wright D.
- Wright J.
- Wright M.
- Wrobel N.
- Wu Y.
- Wulandari R.
- Wyllie D. H.
- Wynter I.
- Xavier K.
- Xue X.
- Yadav A.
- Yang J.
- Yassen A. M.
- Yates B.
- Ye C.
- Yun N.
- Zainy T.
- Zak A.
- Zaki A.
- Zamikula J.
- Zanella I.
- Zborowski A. C.
- Zeberg H.
- Zechner M.
- Zguro K.
- Zhang M.
- Zhao J. H.
- Zheng C.
- Zhou W.
- Zitter L.
- Zlatopolsky M.
- Zollner S.
- Zongo O.
- Zucchi P.
- Zyndorf M.
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 01/01/2022
- Field of study
Critical COVID-19 is caused by immune-mediated inflammatory lung injury. Host genetic variation influences the development of illness requiring critical care1 or hospitalization2–4 after infection with SARS-CoV-2. The GenOMICC (Genetics of Mortality in Critical Care) study enables the comparison of genomes from individuals who are critically ill with those of population controls to find underlying disease mechanisms. Here we use whole-genome sequencing in 7,491 critically ill individuals compared with 48,400 controls to discover and replicate 23 independent variants that significantly predispose to critical COVID-19. We identify 16 new independent associations, including variants within genes that are involved in interferon signalling (IL10RB and PLSCR1), leucocyte differentiation (BCL11A) and blood-type antigen secretor status (FUT2). Using transcriptome-wide association and colocalization to infer the effect of gene expression on disease severity, we find evidence that implicates multiple genes—including reduced expression of a membrane flippase (ATP11A), and increased expression of a mucin (MUC1)—in critical disease. Mendelian randomization provides evidence in support of causal roles for myeloid cell adhesion molecules (SELE, ICAM5 and CD209) and the coagulation factor F8, all of which are potentially druggable targets. Our results are broadly consistent with a multi-component model of COVID-19 pathophysiology, in which at least two distinct mechanisms can predispose to life-threatening disease: failure to control viral replication; or an enhanced tendency towards pulmonary inflammation and intravascular coagulation. We show that comparison between cases of critical illness and population controls is highly efficient for the detection of therapeutically relevant mechanisms of disease
Problematizing fit and survival: transforming the law of requisite variety through complexity misalignment
- Author
- Adner R.
- Aldrich H. E.
- Alvesson M.
- Archer M. S.
- Archer M. S.
- Archer M. S.
- Ashby W. R.
- Ashmos D. P.
- Astley W. G.
- Barge J. K.
- Barreto I.
- Batjargal B.
- Battilana J.
- Baum J. A. C.
- Bedeian A. G.
- Benbya H.
- Bigley G. A.
- Boisot M.
- Boisot M.
- Boisot M.
- Boone C.
- Bowie N. E.
- Burnes B.
- Cannon A. R.
- Carton A. M.
- Ceja L.
- Chang C. H.
- Child J.
- Corley K. G.
- Corning P. A.
- Creed W. E. D.
- Dacin M. T.
- Dacin M. T.
- Dane E.
- De Rond M.
- Delbridge R.
- Delbridge R.
- Delbridge R.
- Denrell J.
- DiMaggio P.
- DiMaggio P.
- Dooley R. S.
- Doty D. H.
- Dougherty D.
- Edwards T.
- Efthimios Poulis
- Eggers J. P.
- Eisenhardt K. M.
- Emirbayer M.
- Etzioni A.
- Finkelstein S.
- Garud R.
- Garud R.
- Geletkanycz M. A.
- Geletkanycz M. A.
- George E.
- Giddens A.
- Godfrey P. C.
- Greenwood R.
- Greenwood R.
- Greenwood R.
- Greenwood R.
- Greenwood R.
- Gresov C.
- Hambrick D. C.
- Hambrick D. C.
- Hambrick D. C.
- Hambrick D. C.
- Hardy C.
- Hargrave T. J.
- Harrison D. A.
- Henderson A. D.
- Hesketh A.
- Hitlin S.
- Hodgkinson G. P.
- Holburn G. L. F.
- Holm P.
- Holt D. L.
- Holt R.
- Houchin K.
- Hrebiniak L. G.
- Hrebiniak L. G.
- Hunt G. M. K.
- Jarzabkowski P.
- Johnson R. E.
- Judge T. A.
- Judge T. A.
- Khan F. R.
- Kim B.
- King B. G.
- Kodeih F.
- Konstantinos Poulis
- Kor Y. Y.
- Kristal M. M.
- Lado A. A.
- Lawrence T. B.
- Lawrence T. B.
- Lawrence T. B.
- Lawrence T. B.
- Lengnick-Hall C. A.
- Lepak D. P.
- Lepoutre J. M.
- Levy D.
- Lewis G. J.
- Lewis M. W.
- Lipton P.
- Lissack M.
- Lloyd S.
- Lok J.
- Lord R. G.
- Lounsbury M.
- Lumpkin G. T.
- MacKay B.
- Maguire S.
- Maguire S.
- Mainemelis C.
- Marion R.
- McClelland P. L.
- McGrath R. G.
- McKelvey B.
- McPherson C. M.
- Miles R. E.
- Mitchell J. R.
- Moores K.
- Morton A.
- Munir K. A.
- Musteen M.
- Mutch A.
- Mutch A.
- Ndofor H. A.
- Nussbaum M. C.
- Oliver C.
- Oswick C.
- Pache A. C.
- Padgett J. F.
- Parnell J. A.
- Parnell J. A.
- Peteraf M.
- Phillips D. J.
- Phillips N.
- Poulis K.
- Powell T. C.
- Pratt M. G.
- Ragin C. C.
- Rojas F.
- Scherer A. G.
- Seo M.-G.
- Shane S.
- Sherer P. D.
- Simsek Z.
- Singh K.
- Sitkin S. B.
- Smets M.
- Smets M.
- Snow D. A.
- Solomon R. C.
- Stacey R. D.
- Suddaby R.
- Suddaby R.
- Suddaby R.
- Suddaby R.
- Suddaby R.
- Suddaby R.
- Suddaby R.
- Surie G.
- Tan J.
- Thompson J. D.
- Toulmin S.
- Townley B.
- Tsang E. W. K.
- Tsoukas H.
- Tsoukas H.
- Tsoukas H.
- Tushman M.
- Uhl-Bien M.
- Walters B. A.
- Weick K. E.
- Weick K. E.
- Weigelt C.
- Weigelt C.
- Whetten D. A.
- Whetten D. A.
- Wijen F.
- Wollin D.
- Wright A. L.
- Zeleny M.
- Zilber T. B.
- Publication venue
- 'Academy of Management'
- Publication date
- 18/07/2015
- Field of study
The law of requisite variety is widely employed in management theorizing and is linked with core strategy themes such as contingency and fit. We reflect upon requisite variety as an archetypal borrowed concept. We contrast its premises with insights from the institutional literature and commitment literature, draw propositions that set boundaries to its applicability, and review the ramifications of what we call “complexity misalignment.” In this way we contradict foundational assumptions of the law, problematize adaptation- and survival-centric views of strategizing, and theorize the role of human agency in variously complex regimes
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
- Hitoshi Nakagama
- Hojabr Kakavand
- Holger Sültmann
- Holmfridur Hilmarsdottir
- Hong Su
- Hong Xue
- Hong Xue
- Hongtu Zhu
- Hongwei Zhang
- Hongxin Zhang
- Hsiao-Wei Chen
- Huanming Yang
- Hugh Barr
- Hui Shen
- Husen M Umer
- Huy Q Dinh
- Hyung-Lae Kim
- Hyung-Lae Kim
- Hyung-Yong Kim
- Hyunghwan Kim
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- Ignaty Leshchiner
- Ignaty Leshchiner
- Ignaty Leshchiner
- Iker Reyes-Salazar
- Ilinca Lungu
- Ilse Rooman
- Ilya Shmulevich
- Iman Sarrafi
- Iman Sarrafi
- Ina Felau
- Ioana Cutcutache
- Irene Papatheodorou
- Irinel Popescu
- Iris Pauporté
- Iris Selander
- Isabelle Treilleux
- Isidro Cortés-Ciriano
- Ivan Borozan
- Ivana Cataldo
- Ivica Letunic
- Ivica Letunic
- Ivo Buchhalter
- Ivo Buchhalter
- Ivo G Gut
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- Ivon Harliwong
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- Iñigo Martincorena
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- J Robert O'Neill
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- Jacqueline Boultwood
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- Jake June-Koo Lee
- Jakob Skou Pedersen
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- James G Kench
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- Janae V Simons
- Jane E Brock
- Janet S Graham
- Janet S Rader
- Jared T Simpson
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- Jeffrey E Gershenwald
- Jeffrey Marks
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- Jennifer L Jennings
- Jeong-Yeon Lee
- Jeremiah A Wala
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- Jeremy Chien
- Jeremy Johns
- Jerome Myers
- Jesper Lagergren
- Jessica I Hoell
- Jessica K Miller
- Ji Wan Park
- Jia Liu
- Jian Wang
- Jianhong Hu
- Jianjiong Gao
- Jianmin Wu
- Jiashan Zhang
- Jiayin Wang
- Jiayin Wang
- Jieming Chen
- Jihoon Kim
- Jill Barnholtz-Sloan
- Jillian A Hung
- Jing Zhang
- Jingchun Zhu
- Joachim Weischenfeldt
- Joachim Weischenfeldt
- Joan Frigola
- Joana Carlevaro-Fita
- Jocelyne Jacquemier
- Joel S Parker
- Johan Staaf
- Johann S De Bono
- Johanna Bertl
- Johannes Werner
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- John Bartlett
- John Busanovich
- John D McPherson
- John F Thompson
- John Letaw
- John N Weinstein
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- John R McPherson
- John V Pearson
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- Jon G Jonasson
- Jon W Teague
- Jon W Teague
- Jonas Demeulemeester
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- Jonathan Cebon
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- Jonathan Göke
- Jonathan Hinton
- Jonathan Hinton
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- Jongsun Jung
- Jongsun Jung
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- Josep L L Gelpi
- Joshua Armenia
- Joshua M Stuart
- Joshua M Stuart
- Joshy George
- José María Heredia-Genestar
- Joy C Jayaseelan
- Juergen Eils
- Juhee Lee
- Jules N A Kerssemakers
- Julia Markowski
- Julia Richter
- Julian M Hess
- Julian M Hess
- Julian M Hess
- Juliann Shih
- Julie Livingstone
- Julie M Wilson
- Jun Li
- Jun Yu
- Jung Kyoon Choi
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- Junjun Zhang
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- Juris Viksna
- Justin P Whalley
- Jyoti Nangalia
- Jörg Tost
- Jüri Reimand
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- Satoru Miyano
- Satoshi Hirano
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- Sean Cleary
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- Sebastian M Waszak
- Sebastian M Waszak
- Seiya Imoto
- Seong Gu Heo
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- Serena Nik-Zainal
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- Seung Jun Shin
- Seung-Hyup Jeon
- Shadrielle M G Espiritu
- Shadrielle M G Espiritu
- Shailja Gupta
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- Sheng-Ben Liang
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- Shona MacRae
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- Shuai Ding
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- Stefano Barbi
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- Stephan H Bernhart
- Stephan Ossowski
- Stephan Ossowski
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- Stephan Wolf
- Stephanie Sungalee
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- Stephen H Kazakoff
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- Steven G Rozen
- Steven Gallinger
- Steven Hazell
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- Steven Van Laere
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- Suet-Feung Chin
- Sultan T Al-Sedairy
- Sung-Min Ahn
- Sung-Soo Yoon
- Sunghoon Cho
- Sunil R Lakhani
- Suresh Ramalingam
- Susan Bullman
- Susanna L Cooke
- Sushant Kumar
- Sushant Kumar
- Suyash S Shringarpure
- Syed Haider
- Sylvia Asa
- Søren Brunak
- Takafumi N Yamaguchi
- Takafumi N Yamaguchi
- Takanori Hasegawa
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- Takashi Yugawa
- Takuji Okusaka
- Tal Shmaya
- Tannistha Nandi
- Taobo Hu
- Taobo Hu
- Tapio Visakorpi
- Tara J Skelly
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- Tatsuhiro Shibata
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- Tetsuo Ushiku
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- Thomas J Hudson
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- Thorsten Zenz
- Tian Xia
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- Tina Wong
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- Tobias Rausch
- Todd A Johnson
- Todd D Pihl
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- Tom Roques
- Tomas J Tanskanen
- Tomas Marques-Bonet
- Tomoko Urushidate
- Torill Sauer
- Toru Nakamura
- Treasa A McPherson
- Troy Shelton
- Tsun-Po Yang
- Ultan McDermott
- Umadevi Veluvolu
- Umut H Toprak
- Valerie Jakrot
- Varsha Tembe
- Vasilisa A Rudneva
- Venkata D Yellapantula
- Venkata D Yellapantula
- Vera B Kaiser
- Veronica Y Sabelnykova
- Victor Reuter
- Vikram Deshpande
- Viktoriya Korchina
- Ville Mustonen
- Vinayak Bhandari
- Vincent Ferretti
- Vincent Huang
- Vincent Huang
- Vincent J Gnanapragasam
- Vincent Khoo
- Vincenzo Corbo
- Vishal S Chandan
- Volker Hovestadt
- W Kimryn Rathmell
- W M Linehan
- Walker Hale
- Wan Choi
- Wanding Zhou
- Wang Liang-Bo
- Weerasinghe Amila
- Wei Jiao
- Wendl Michael C
- Wenyi Wang
- Wenyi Wang
- Wenyi Wang
- Wheeler David A
- William B Isaacs
- William C Faquin
- William Friedman
- William Howat
- William U Meyerson
- Willie Yu
- Winghing Wong
- Wojciech Bazant
- Wolfgang Huber
- Wolfram Klapper
- Xavier Estivill
- Xavier Pivot
- Xiao Xiao
- Xiaobo Li
- Xiaoping Su
- Xiaotong Li
- Xiaotong Yao
- Xing Hua
- Xingmin Liu
- Xinyue Li
- Xiuqing Zhang
- Xiuqing Zheng
- Xose S Puente
- Xuan Le
- Xuanping Zhang
- Xuemei Luo
- Xueqing Zou
- Yan Shi
- Yan Zhang
- Yang Wu
- Yang Yang
- Yann Joly
- Yanxun Xu
- Yao He
- Yasin Senbabaoglu
- Yassen Assenov
- Yasser Riazalhosseini
- Yasuhito Arai
- Yasushi Rino
- Yasushi Totoki
- Yeng Ang
- Yi Huang
- Yi Huang
- Yifei Men
- Yiling Lu
- Yilong Li
- Yingyan Yu
- Yiwen Chen
- Yogesh Kumar
- Yogesh Kumar
- Yoke-Eng Chiew
- Yong Hou
- Yong Zhou
- Yong-Jie Lu
- Yongzhan Nie
- Yosef E Maruvka
- Yosef E Maruvka
- Yoshiiku Kawakami
- Young Seok Ju
- Youngchoon Woo
- Youngil Koh
- Youngwook Kim
- Youyong Lu
- Yu Fan
- Yu Fan
- Yu Fan
- Yu-Jia Shiah
- Yuan Ji
- Yuan Yuan
- Yuichi Shiraishi
- Yulia Newton
- Yulia Rubanova
- Yumeng Wang
- Yupeng Cun
- Yussanne Ma
- Zachary Heins
- Zechen Chong
- Zechen Chong
- Zemin Zhang
- Zhaohong Chen
- Zhenggang Wu
- Zhenggang Wu
- Zhining Wang
- Zhongming Zhao
- Ziao Lin
- Zsofia Kote-Jarai
- Ólafur Andri Stefánsson
- Øystein Garred
- Publication venue
- Nature Communications
- Publication date
- 01/01/2020
- Field of study
Funder: NCI U24CA211006Abstract: The Cancer Genome Atlas (TCGA) and International Cancer Genome Consortium (ICGC) curated consensus somatic mutation calls using whole exome sequencing (WES) and whole genome sequencing (WGS), respectively. Here, as part of the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium, which aggregated whole genome sequencing data from 2,658 cancers across 38 tumour types, we compare WES and WGS side-by-side from 746 TCGA samples, finding that ~80% of mutations overlap in covered exonic regions. We estimate that low variant allele fraction (VAF < 15%) and clonal heterogeneity contribute up to 68% of private WGS mutations and 71% of private WES mutations. We observe that ~30% of private WGS mutations trace to mutations identified by a single variant caller in WES consensus efforts. WGS captures both ~50% more variation in exonic regions and un-observed mutations in loci with variable GC-content. Together, our analysis highlights technological divergences between two reproducible somatic variant detection efforts
PLAUR polymorphisms are associated with asthma, PLAUR levels, and lung function decline
- Author
- Publication venue
- 'Elsevier BV'
- Publication date
- 01/06/2009
- Field of study
Background: several studies have suggested that chromosome 19q13.1-3 contains asthma susceptibility genes.Objective: linkage and association analyses using 587 United Kingdom and Dutch asthma families (n = 2819 subjects) were used to investigate this region.Methods: a 3-phase procedure was used: (1) linkage and association analyses using 15 microsatellite markers spanning 14.4 mega base pairs (Mbps) on 19q13, (2) fine mapping of the refined region using 26 haplotype tagging single nucleotide polymorphisms (SNPs), and (3) dense gene analyses using 18 SNPs evaluated for association with asthma, bronchial hyperresponsiveness (BHR), FEV1, plasma urokinase plasminogen activator receptor (PLAUR), and rate of annual FEV1 decline in subjects with asthma.Results: the microsatellite analyses provided tentative support for an asthma/lung function susceptibility locus (48.9-49.1Mbps), and fine mapping localized modest association to the PLAUR gene. PLAUR SNPs in the 5? region, intron 3, and 3? region are associated with asthma and BHR susceptibility and predict FEV1 and plasma PLAUR levels. SNPs in the 5? region showed association for asthma (2 populations), FEV1 (2 populations), and BHR (2 populations) phenotypes. SNPs in intron 3 showed association with asthma (2 populations) and BHR (3 populations). Importantly, the same 5? region and intron 3 SNPs were associated with plasma PLAUR levels. The same 5? region and 3? region SNPs were found to be determinants of FEV1 decline in subjects with asthma.Conclusion: this study represents the first report to identify PLAUR as a potential asthma susceptibility gene and determine PLAUR regions underlying this association, including a role in influencing plasma PLAUR levels. Finally, the association of PLAUR with lung function decline supports a role for PLAUR in airway remodeling in asthm
Associations of combined physical activity and body mass index groups with colorectal cancer survival outcomes
- Author
- Adetunji T. Toriola
- Alexis B. Ulrich
- Anita R. Peoples
- Anjelica Ashworth
- Biljana Gigic
- Caroline Himbert
- Christopher I. Li
- Corey Bernadt
- Cornelia M. Ulrich
- Courtney L. Scaife
- David Shibata
- Elizabeth Wood
- Erin M. Siegel
- Jane C. Figueiredo
- Jennifer Ose
- Jessica N. Cohan
- Jolanta Jedrzkiewicz
- Julian Sanchez
- Jun Gong
- June L. Round
- Katelyn M. Atkins
- Kelly Santuci
- Kenneth Boucher
- Lyen C. Huang
- Martin Schneider
- Matthew G. Mutch
- Mukta K. Krane
- Nathan Hinkle
- Richard Viskochil
- Seth Felder
- Sheetal Hardikar
- Stacey A. Cohen
- Tengda Lin
- Victoria Damerell
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 01/04/2023
- Field of study
Abstract Background Physical activity and BMI have been individually associated with cancer survivorship but have not yet been studied in combinations in colorectal cancer patients. Here, we investigate individual and combined associations of physical activity and BMI groups with colorectal cancer survival outcomes. Methods Self-reported physical activity levels (MET hrs/wk) were assessed using an adapted version of the International Physical Activity Questionnaire (IPAQ) at baseline in 931 patients with stage I-III colorectal cancer and classified into ‘highly active’ and’not-highly active’(≥ / < 18 MET hrs/wk). BMI (kg/m2) was categorized into ‘normal weight’, ‘overweight’, and ‘obese’. Patients were further classified into combined physical activity and BMI groups. Cox-proportional hazard models with Firth correction were computed to assess associations [hazard ratio (HR), 95% profile HR likelihood confidence interval (95% CI) between individual and combined physical activity and BMI groups with overall and disease-free survival in colorectal cancer patients. Results ‘Not-highly active’ compared to ‘highly active’ and ‘overweight’/ ‘obese’ compared to ‘normal weight’ patients had a 40–50% increased risk of death or recurrence (HR: 1.41 (95% CI: 0.99–2.06), p = 0.03; HR: 1.49 (95% CI: 1.02–2.21) and HR: 1.51 (95% CI: 1.02–2.26), p = 0.04, respectively). ‘Not-highly active’ patients had worse disease-free survival outcomes, regardless of their BMI, compared to ‘highly active/normal weight’ patients. ‘Not-highly active/obese’ patients had a 3.66 times increased risk of death or recurrence compared to ‘highly active/normal weight’ patients (HR: 4.66 (95% CI: 1.75–9.10), p = 0.002). Lower activity thresholds yielded smaller effect sizes. Conclusion Physical activity and BMI were individually associated with disease-free survival among colorectal cancer patients. Physical activity seems to improve survival outcomes in patients regardless of their BMI
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- Author
- Abbott
- Ague
- Ague
- Ague
- Allmendinger
- Anderson
- Barak
- Burov
- Cao
- Cathles
- Chadwick
- Chiaradia
- Chin
- Chu
- Cin-Ty A. Lee
- Coleman
- DeCelles
- DeGraaff-Surpless
- Ducea
- Fialko
- Garver
- Gastil
- Gehrels
- Girty
- Gromet
- Grove
- Grove
- Hammarstrom
- Haschke
- Hehe Jiang
- Hervé
- Hildreth
- Hollister
- Jaffey
- Jiang
- Johnson
- Karlstrom
- Kelemen
- Kimbrough
- Kistler
- Leake
- Lee
- Lee
- Lee
- Lee
- Lee
- Lewis
- Lovera
- Miggins
- Minch
- Molnar
- Morton
- Mutch
- Needy
- Nordstrom
- Petford
- Plank
- Premo
- Rothstein
- Rudnick
- Schmidt
- Schoellhamer
- Sharman
- Shaw
- Silver
- Simoes
- Sláma
- Spear
- Stacey
- Thomson
- Todd
- Todd
- Tulloch
- Turner
- Walawender
- Ward
- Wiedenbeck
- Williams
- Publication venue
- 'Elsevier BV'
- Publication date
- Field of study
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- Author
- Azadbakht
- Baptiste Madon
- Barker
- Blundy
- Botcharnikov
- Botcharnikov
- Bédard
- Cameron
- Camprubí
- Daigneault
- Daigneault
- Dallmeyer
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- Jochum
- Johannes
- Jolly
- Katz
- Klein
- Krawczynski
- Krogh
- Krogh
- Lameyre
- Lang
- Lawley
- Le Bas
- Leake
- Leclerc
- Lucie Mathieu
- Mathieu
- Mathieu
- Mathieu
- Michael A. Hamilton
- Middlemost
- Miles
- Mortensen
- Moyen
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- Mutch
- Paton
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- Piccoli
- Richards
- Ridolfi
- Robert
- Ross
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- Stern
- Streckeisen
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- Vermeesch
- Wark
- Watson
- Wedepohl
- Whitney
- Wiedenbeck
- Williams-Jones
- Yoder
- Zen
- Publication venue
- 'Elsevier BV'
- Publication date
- Field of study
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- Bootwalla Moiz S.
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- Brinkman Arie B.
- Bristow Robert G.
- Broaddus Russell R.
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- Brock Malcolm
- Broeks Annegien
- Brooks Angela N.
- Brooks Denise
- Brors Benedikt
- Brunak Søren
- Bruxner Timothy J. C.
- Bruzos Alicia L.
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- Buchhalter Ivo
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- Bustamante Carlos D.
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- Butte Atul J.
- Byrne Niall J.
- Børresen-Dale Anne-Lise
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- Carlsen Rebecca
- Cataldo Ivana
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- Cerfolio Robert
- Chadwick Dianne E.
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- 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
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- 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
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- Connor Ashton A.
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- Cordes Matthew G.
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- Covington Kyle
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- Cutcutache Ioana
- Czajka Karolina
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- Demidov German M.
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- Dhalla Noreen
- Dhani Neesha C.
- Dhingra Priyanka
- Dhir Rajiv
- Diamanti Klev
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- Ding Li
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- Dirix Luc
- Doddapaneni HarshaVardhan
- Dong Guanlan
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- Escaramis Georgia
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- Frazer Scott
- Frenkel-Morgenstern Milana
- Friedman William
- Frigola Joan
- Fronick Catrina C.
- Fujimoto Akihiro
- Fujita Masashi
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- Fulton Lucinda A.
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- Furuta Mayuko
- Futreal P. Andrew
- Füllgrabe Anja
- Gabriel Stacey B.
- Gallinger Steven
- Gambacorti-Passerini Carlo
- Gao Jianjiong
- Gao Shengjie
- Garraway Levi
- Garred Øystein
- Garrison Erik
- Garsed Dale W.
- Gehlenborg Nils
- Gelpi Josep L. l.
- George Joshy
- Gerhard Daniela S.
- Gerhauser Clarissa
- Gershenwald Jeffrey E.
- Gerstein Mark B.
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- Ghori Mohammed
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- Gotoh Kunihito
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- Greger Liliana
- Grehan Nicola
- Grimaldi Sonia
- Grimmond Sean M.
- Grossman Robert L.
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- Gundem Gunes
- Guo Qianyun
- Gupta Manaswi
- Gupta Shailja
- Gut Ivo G.
- Gut Marta
- Göke Jonathan
- Ha Gavin
- Haake Andrea
- Haan David
- Haas Siegfried
- Haase Kerstin
- Haber James E.
- Habermann Nina
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- Hale Walker
- Hama Natsuko
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- Hodzic Ermin
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- Hou Yong
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- Howat William
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- Hu Jianhong
- Hu Taobo
- Hua Xing
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- Huang Mi Ni
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- Huang Yi
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- Imielinski Marcin
- Imoto Seiya
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- Ju Young Seok
- Juhl Hartmut
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- Kahles Andre
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- Kaiser Vera B.
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- Kalimuthu Sangeetha
- Kandoth Cyriac
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- Karaszi Katalin
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- Kasapi Melpomeni
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- Khurana Ekta
- Kilpinen Helena
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- Kim Hyung-Lae
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- Kim Hyunghwan
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- Kleinheinz Kortine
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- Komura Daisuke
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- Korchina Viktoriya
- Korshunov Andrey
- Koscher Michael
- Koster Roelof
- Kote-Jarai Zsofia
- Koures Antonios
- Kovacevic Milena
- Kremeyer Barbara
- Kretzmer Helene
- Kreuz Markus
- Krishnamurthy Savitri
- Kube Dieter
- Kumar Kiran
- Kumar Pardeep
- Kumar Sushant
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- Liu Dongbing
- Liu Eric Minwei
- Liu Fei-Fei
- Liu Fenglin
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- Nettekoven Gerd
- Newell Felicity
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- Newton Yulia
- Ng Alvin Wei Tian
- Ng Anthony
- Nicholson Jonathan
- Nicol David
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- Yellapantula Venkata D.
- Yoon Christopher J.
- Yoon Sung-Soo
- Yousif Fouad
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- Zaikova Olga
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- 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