24 research outputs found
DETECTION OF HIV-1 VIRAL PROTEIN R IN HIV ENCEPHALITIC BRAIN TISSUE
- Publication venue
- Publication date
- 13/09/2005
- Field of study
HIV-1 Associated Dementia (HAD), the most severe neurological complication associated with HIV-1 infection, is commonly characterized by inflammation of the brain and neuronal degeneration, known as HIV Encephalitis (HIVE). HIVE develops in 20-30% of patients infected with HIV, which means that 9.5 million people are affected by HIVE throughout the world. While the introduction of highly active antiretroviral therapy (HAART) has decreased the incidence of severe late-stage HAD, the prevalence of its precursor HIVE is actually rising. Several HIV-1 viral proteins have been shown using in vitro models to have a role in the neurotoxic effects causing the neurodegeneration seen during HIVE. HIV-1 Viral Protein R (Vpr), a virion associated gene product which induces apoptosis in non-proliferating cells including neurons, is thought to contribute to the neuropathogenesis associated with HIVE. Previous studies have shown the presence of detectable levels of Vpr in the cerebrospinal fluid of HIV-1 infected patients. Extracellular Vpr released from HIV-1 infected macrophages has also been shown to be capable of transducing into cells not normally infected by HIV-1, causing death of these bystander cells. Additionally, Vpr has been shown in vitro to be able to induce apoptosis in human neurons. Although current research suggests that Vpr plays a significant role in neuropathogenesis, no work has been done yet in vivo to show the presence of Vpr in the brain tissue of HIVE patients. Using a panel of eight HIVE and four HIV seronegative patient brain tissue sections, I performed immunohistochemistry staining for Vpr, p24, and brain cell specific markers. Results indicate that Vpr was present in detectable amounts in both the basal ganglia and frontal cortex of all eight HIVE brain tissue samples tested. Double label immunohistochemistry was performed using antibodies specific for astrocytes macrophages and neurons. I detected the presence of Vpr in the macrophages and neurons, but not in the astrocytes, of HIVE patients. The results of this study strongly support the role of Vpr in the neuropathogenesis seen during HIVE. Further studies based on these findings could lead to the development of effective therapeutic treatments necessary to reduce, and possibly prevent, this public health epidemic
New genetic loci link adipose and insulin biology to body fat distribution.
- Author
- Aalto Ville
- Aasarød Knut
- Abecasis Goncalo R
- Abecasis Gonçalo
- Absher Devin
- Adair Linda S
- Adam Martin
- Adeyemo Adebowale
- Ahlqvist Emma
- Ahmadi Kourosh R
- Ahola Aila
- Ainali Chrysanthi
- Akylbekova Ermeg
- Ala-Korpela Mika
- Alavere Helen
- Albagha Omar M E
- Albrecht Eva
- Alen Markku
- Alexander Myriam
- Alhenc-Gelas François
- Alizadeh Behrooz Z
- Allison Matthew A
- Alonso Nerea
- Altshuler David
- Ambite Jose Luis
- Amin Najaf
- Amouyel Philippe
- An Ping
- Anderson Carl A
- Anderson Denise
- Anderson Garnet
- Andrews Jeanette S
- Antonella Mulas
- Antti Jula
- Aragaki Aaron K
- Arking Dan E
- Arnold Alice
- Arnold Alice M
- Arora Pankaj
- Arscott Gillian M
- Artigas Maria Soler
- Arveiler Dominique
- Asiki Gershim
- Aspelund Thor
- Assimes Themistocles L
- Atalay Mustafa
- Atkinson Elizabeth J
- Aulchenko Yurii
- Avery Christy
- Bain Stephen C
- Bakker Stephan J L
- Balcells Susana
- Balkau Beverley
- Ballantyne Christie M
- Balmforth Anthony J
- Bandinelli Stefania
- Barbalic Maja
- Barrett Amy
- Barroso Ines
- Barroso Inês
- Basart Hanneke
- Basart Hanneke V
- Bataille Veronique
- Baumert Jens
- Beckmann Jacques S
- Beekman Marian
- Been Latonya F
- Beilby John
- Beilby John P
- Bell Jordana T
- Bellis Claire
- Bennett Amanda J
- Bennett Franklyn
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- Bergman Richard N
- Bergmann Sven
- Berndt Sonja I
- Berne Christian
- Bidulescu Aurelian
- Bielak Lawrence F
- Bierut Laura J
- Biffar Reiner
- Bis Joshua C
- Blackburn Hannah
- Blangero John
- Blankenberg Stefan S
- Blüher Matthias
- Boban Mladen
- Bochud Murielle
- Boehm Bernhard O
- Boehnke Michael
- Boerwinkle Eric
- Boezen H Marike
- Bolton Jennifer L
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- Borecki Ingrid
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- Yao Jie
- Yengo Loïc
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- Young Alicia
- Young Elizabeth H
- Young J H
- Young Lauren
- Yuan Xin
- Zaboli Ghazal
- Zalloua Pierre A
- Zarrabeitia María T
- Zelenika Diana
- Zemunik Tatijana
- Zerbini Gianpaolo
- Zgaga Lina
- Zhai Guangju
- Zhang Feng
- Zhang Qunyuan
- Zhang Weihua
- Zhao Jing Hua
- Zhao Wei
- Zheng Hou-Feng
- Zheng Wei
- Zhou Yanhua
- Zhu Haidong
- Zhu Kun
- Zhu Xiaofeng
- Zhuang Wei V
- Zhuang Wei Vivian
- Ziegler Andreas
- Zillikens M Carola
- Zimmermann Martina E
- Zitting Paavo
- Zondervan Krina T
- Zukowska-Szczechowska Ewa
- Zygmunt Marek
- Ärnlöv Johan
- Österholm Anne-May
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 01/01/2015
- Field of study
Body fat distribution is a heritable trait and a well-established predictor of adverse metabolic outcomes, independent of overall adiposity. To increase our understanding of the genetic basis of body fat distribution and its molecular links to cardiometabolic traits, here we conduct genome-wide association meta-analyses of traits related to waist and hip circumferences in up to 224,459 individuals. We identify 49 loci (33 new) associated with waist-to-hip ratio adjusted for body mass index (BMI), and an additional 19 loci newly associated with related waist and hip circumference measures (P < 5 × 10(-8)). In total, 20 of the 49 waist-to-hip ratio adjusted for BMI loci show significant sexual dimorphism, 19 of which display a stronger effect in women. The identified loci were enriched for genes expressed in adipose tissue and for putative regulatory elements in adipocytes. Pathway analyses implicated adipogenesis, angiogenesis, transcriptional regulation and insulin resistance as processes affecting fat distribution, providing insight into potential pathophysiological mechanisms
Genome-wide association identifies nine common variants associated with fasting proinsulin levels and provides new insights into the pathophysiology of type 2 diabetes.
- Author
- Abecasis Goncalo
- Abecasis Gonçalo R.
- Aben Katja K.
- Absher Devin
- Aherrahrou Zouhair
- Ahlqvist Emma
- Ahmadi Kourosh
- Ahmed Nabeel
- Alavere Helene
- Alibrandi Maria T S
- Allayee Hooman
- Almgren Peter
- Altshuler David
- Amin Najaf
- Anand Sonia S.
- Andersen Karl
- Anderson Jeffrey L.
- Ardissino Diego
- Ardlie Kristin
- Armitage Jane
- Arnold Alice M.
- Aspelund Thor
- Assimes Themistocles L.
- Assmann Gerd
- Atwood Larry D.
- Aulchenko Yurii S.
- Azhar Muhammad
- Balkau Beverley
- Ball Stephen G.
- Balmforth Anthony J.
- Barbalic Maja
- Barker Adam
- Barker David J P
- Barlassina Christina
- Barlera Simona
- Barnes Daniel
- Barnes Timothy A.
- Barrett Amy
- Barroso H
- Barroso Inês
- Bataille Veronique
- Becker Diane M.
- Becker Lewis C.
- Beckmann Jacques S.
- Beilby John P.
- Ben-Shlomo Yoav
- Benediktsson Rafn
- Bennett Amanda J.
- Berger Klaus
- Bergman Richard N.
- Bergmann Sven
- Bernd Sonja I.
- Berndt Sonja I
- Biebermann Heike
- Bis Joshua C.
- Blagieva Roza
- Blakemore Alexandra I F
- Blankenberg Stefan
- Boehm Bernhard O.
- Boehnke Michael
- Boehnke Mike
- Boeing Heiner
- Boekholdt S. Matthijs
- Boerwinkle Eric
- Boes Tanja
- Bonnycastle Lori L.
- Boomsma Dorret I.
- Borecki Ingrid B.
- Bornstein Stefan R.
- Boström Kristina Bengtsson
- Bouatia-Naji Nabila
- Bowman Louise
- Bragi Walters G.
- Braund Peter S.
- Bravenboer Bert
- Brown Morris J.
- Buchanan Thomas A.
- Bumpstead Suzannah
- Burnett Mary Susan
- Burtt Noisël P.
- Busonero Fabio
- Buysschaert Ian
- Cambien Francois
- Campbell Harry
- Cappuccio Francesco P.
- Cardiogenics [Unknown]
- Carlquist John F.
- Cauchi Stephane
- Caulfield Mark
- Cavalcanti-Proença Christine
- Chambers John C.
- Chanock Stephen J.
- Charpentier Guillaume
- Chasman Daniel I.
- Chatterjee Nilanjan
- Chen Chih Mei
- Chen Han
- Chen Li
- Chines Peter S.
- Cichon Sven
- Clarke Robert
- Codd Veryan
- Coin Lachlan
- Collins Francis S.
- Collins Rory
- Connell John
- Cooper Cyrus C.
- Cooper Matthew N.
- Cornelis Marilyn
- Couper David J.
- Crawford Gabe
- Cupples L. Adrienne
- Daly Mark J.
- Danesh John
- Davies Robert W.
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- de Faire Ulf
- Dedoussis George
- Dehghan Abbas
- Deloukas Panos
- Demissie Serkalem
- den Heijer Martin
- Dennison Elaine M.
- Dermitzakis Emmanouil T.
- Devaney Joseph M.
- di Meglio Paola
- Diemert Patrick
- Dimas Antigone S.
- Dina Christian
- Dixon Anna L.
- Do Ron
- Doering Angela
- Doney Alex S F
- Donnelly Peter
- Dorret I Boomsma
- Duan Jubao
- Dupuis Josée
- Durbin Richard
- Ebrahim Shah
- Eifert Sandra
- Eiriksdottir Gudny
- El Mokhtari Nour Eddine
- Elliott Amanda L.
- Elliott Katherine S.
- Elliott Paul
- Ellis Stephen G.
- Elosua Roberto
- Engert James C.
- Epstein Stephen E.
- Erdmann Jeanette
- Erdos Michael R.
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- Eriksson Johan G.
- Eriksson Per
- Esko Tõnu
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- Estrada Karol
- Eury Elodie
- Facheris Maurizio F.
- Farooqi I. Sadaf
- Farrall Martin
- Feitosa Mary F.
- Felix Stephan B.
- Ferrannini Ele
- Ferreir Teresa
- Ferreira Teresa
- Fischer Marcus
- Fischer-Posovszky Pamela
- Fisher Eva
- Florez Jose C.
- Folkersen Lasse
- Folsom Aaron R.
- Forsen Tom J.
- Fox Caroline S.
- Franklin Christopher S.
- Franzosi Maria Grazia
- Frayling Timothy M.
- Freimer Nelson B.
- Freyer Jennifer
- Friedrich Nele
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- Fu Mao
- Gaget Stefan
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- Gigante Bruna
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- Glass Daniel
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- Gloyn Anna L.
- Goddard Michael E.
- Goel Anuj
- Goodall Alison H.
- Goyette Philippe
- Grallert Harald
- Grarup Niels
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- Green Todd
- Greenawalt Danielle M.
- Gretarsdottir Solveig
- Griffin Simon
- Groop Leif
- Groop Leif C.
- Groves Christopher J.
- Grundberg Elin
- Gräßler Jürgen
- Grönberg Henrik
- Gu Harvest
- Gudnason Vilmundur
- Guiducci Candace
- Gulcher Jeffrey R.
- Gustafsso Stefan
- Gustafsson Stefan
- Gyllensten Ulf
- Hadjadj Samy
- Hall Alistair S.
- Hall Per
- Halperin Eran
- Hammond Christopher J.
- Hammond Naomi
- Hamsten Anders
- Han Chen
- Hansen Torben
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- Harris Tamara B.
- Hartikainen Anna Liisa
- Hassanali Neelam
- Hattersley Andrew T.
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- Heath Andrew C.
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- Hedman Åsa K.
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- Heinrich Joachim
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- Herder Christian
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- Hitman Graham A.
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- Holm Hilma
- Homuth Georg
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- Huth Cornelia
- Hveem Kristian
- Ida Chen Yii Der
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- Ingle Catherine
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- Isomaa Bo
- Jackso Anne U.
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- Jameson Karen A.
- Jansson John Olov
- Jarick Ivonne
- Jarvelin Marjo Riitta
- Jewell Elizabeth
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- John Ulrich
- Johnson Paul
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- Jones Gregory T.
- Jousilahti Pekka
- Jukema J. Wouter
- Jula Antti
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- Kaakinen Marika
- Kaiser Michael A.
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- Kanoni Stavroula
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- Kaplan Robert C.
- Kaprio Jaakko
- Karpe Fredrik
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- Ketkar Shamika
- Kettunen Johannes
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- Kiemeney Lambertus A.
- Kilpeläine Tuomas O.
- Kilpeläinen Tuomas O
- Kinnunen Leena
- Klopp Norman
- Knowles Joshua W.
- Kolcic Ivana
- Kolovou Genovefa
- Kong Augustine
- Kooner Angad S.
- Kooner Jaspal S.
- Koskinen Seppo
- Kovacs Peter
- Kraft Peter
- Krude Heiko
- Kutalik Zoltán
- Kuulasmaa Teemu
- Kuusisto Johanna
- Kvaløy Kirsti
- Kyriakou Theodosios
- Kähönen Mika
- König Inke R.
- Laakso Markku
- Laaksonen Reijo
- Laitinen Jaana
- Lambrechts Diether
- Lamina Claudia
- Langenberg Claudia
- Lango Allen Hana
- Lantieri Olivier
- Lanzani Chiara
- Launer Lenore J.
- Lauritzen Torsten
- Lawlor Debbie A.
- Lawrence Robert W.
- Leander Karin
- Lecoeur Cecile
- Lehtimäki Terho
- Lettre Guillaume
- Levinson Douglas F.
- Li Man
- Li Mingyao
- Li Shengxu
- Lian Liming
- Liang Liming
- Lieb Wolfgang
- Lieverse Aloysius
- Lind Lars
- Lindgre Cecilia M.
- Lindgren Cecilia M.
- Linksted Pamela
- Liu Jianjun
- Lokki Marja Liisa
- Loley Christina
- Loos Ruth J F
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- Lotery Andrew J.
- Lua Jian'an
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- Ludwig Barbara
- Lyssenko Valeriya
- Macciardi Fabio
- MAGIC [Unknown]
- Makrilakis Konstantinos
- Mallick Nadeem
- Mangino Massimo
- Mannila Maria Nastase
- Manning Alisa K.
- Mannucci Pier M.
- Manunta Paolo
- Maouche Seraya
- Marek Diana
- Marre Michel
- Martin Nicholas G.
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- Martínez-Larrad María Teresa
- McArdle Wendy L.
- McCarroll Steve A.
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- McCarthy Anne
- McCarthy Mark
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- McKeown Pascal P.
- McKnight Barbara
- McPherson Ruth
- Meigs James B.
- Meisinger Christa
- Meitinger Thomas
- Melander Olle
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- Merlini Pier Angelica
- Metspalu Andres
- Meyre David
- Midthjell Kristian
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- Mohlke Karen L.
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- Mooser Vincent
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- Musunuru Kiran
- Myers Richard H.
- Mäg Reedik
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- Mälarstig Anders
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- Mühleisen Thomas W.
- Münzel Thomas
- Nahrstaedt Janja
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- Ongen Halit
- Oostra Ben
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- Park Ju-Hyun
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- Parts Leopold
- Paré Guillaume
- Pascoe Laura
- Patel Riyaz S.
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- Payne Felicity
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- Pedersen Oluf
- Pellikka Niina
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- Perry John R B
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- Peto Richard
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- Platou Carl
- Platou Carl G P
- Polasek Ozren
- Potter Simon
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- Prokopenko Inga
- Purcell Shaun
- Qi Lu
- Qu Liming
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- Quyyumi Arshed A.
- Rader Daniel J.
- Rafelt Suzanne
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- Rasheed Asif
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- Ridderstråel Martin
- Ridderstråle Martin
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- Rocheleau Ghislain
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- Rubin Diana
- Rudan Igor
- Ruokonen Aimo
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- Rybin Denis
- Rzehak Peter
- Ríos Manuel Serrano
- Sabater-Lleal Maria
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- Silveira Angela
- Sinisalo Juha
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- Sivananthan Mohan
- Sivapalaratnam Suthesh
- Sladek Rob
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- Smith Albert
- Smith George Davey
- Smith Tamara B.
- Snoep Jaapjan D.
- Soranzo Nicole
- Sovio Ulla
- Sparsø Thomas
- Spector Timothy D.
- Speliote Elizabeth K.
- Speliotes Elizabeth K
- Spertus John A.
- Stancakova Alena
- Stark Klaus
- Stefansson Kari
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- Steinthorsdotti Valgerdur
- Steinthorsdottir Valgerdur
- Stephens Jonathan
- Stewart Alexandre F R
- Stirrups Kathy
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- Strachan David P.
- Strassburger Klaus
- Strawbridge Rona
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- Stringham Heather M.
- Stumvoll Michael
- Sun Qi
- Surakka Ida
- Surdulescu Gabriela
- Swift Amy J.
- Syvänen Ann Christine
- Tammesoo Mari Liis
- Taneera Jalal
- Tang W. H Wilson
- Tardif Jean Claude
- Teder-Laving Maris
- Tennstedt Stephanie
- Terho Lehtimäki
- Teslovich Tanya M.
- Thiering Elisabeth
- Thompson John R.
- Thomson Brian
- Thorand Barbara
- Thorgeirsson Gudmundur
- Thorleifsso Gudmar
- Thorleifsson Gudmar
- Thorsteinsdottir Unnur
- Tichet Jean
- Timpson Nicholas J.
- Tognoni Gianni
- Tomaszewski Maciej
- Travers Mary
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- Uitterlinden Andre G.
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- van Hoek Mandy
- van Meurs Joyce B.
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- van Wingerden Sophie
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- Vedanta Sailaja
- Vedantam Sailaja
- Viikari Jorma
- Visscher Peter M.
- Visvikis-Siest Sophie
- Vitart Veronique
- Vogel Carla I G
- Voight Benjamin F.
- Wabitsch Martin
- Waeber Gérard
- Waite Lindsay L.
- Walker Mark
- Wallaschofski Henri
- Walter G. Bragi
- Wareham Nicholas J.
- Wareham Nick J.
- Watanabe Richard M.
- Watkins Hugh
- Weedo Michael N.
- Weedon Michael N.
- Welch Ryan
- Wells George A.
- Weyan Robert J.
- Weyant Robert J
- Wheele Eleanor
- Wheeler Eleanor
- White Charles C.
- Wichmann H. Erich
- Widen Elisabeth
- Wiegand Susanna
- Wijmenga Cisca
- Wiklund Fredrik
- Wild Philipp S.
- Wild Sarah H.
- Wilk Alicja
- Wille Cristen J.
- Willemsen Gonneke
- Willenborg Christina
- Willer Cristen J.
- Wilson James F.
- Winkle Thomas W.
- Winkler Thomas W
- Witte Daniel R.
- Witteman Jacqueline
- Witteman Jacqueline C.
- Witteman Jaqueline C M
- Woo Andrew R.
- Wood Andrew R
- Workalemah Tsegaselassie
- Workalemahu Tsegaselassie
- Wright Alan F.
- Wright Benjamin J.
- Wu Guanming
- Xie Weijia
- Xu Jianfeng
- Yang Jian
- Yang Tsun Po
- Ye Shu
- Zabena Carina
- Zaidi Moazzam
- Zaman Khan Shah
- Zeggini Eleftheria
- Zeller Tanja
- Zethelius Björn
- Zgaga Lina
- Zhang Qunyuan
- Zhang Weihua
- Zhao Jing Hua
- Ziegler Andreas
- Zillikens M. Carola
- Zitting Paavo
- Zondervan Krina T.
- Öhrvik John
- Östenson Claes Göran
- Publication venue
- Diabetes
- Publication date
- 01/01/2011
- Field of study
OBJECTIVE: Proinsulin is a precursor of mature insulin and C-peptide. Higher circulating proinsulin levels are associated with impaired β-cell function, raised glucose levels, insulin resistance, and type 2 diabetes (T2D). Studies of the insulin processing pathway could provide new insights about T2D pathophysiology. RESEARCH DESIGN AND METHODS: We have conducted a meta-analysis of genome-wide association tests of ∼2.5 million genotyped or imputed single nucleotide polymorphisms (SNPs) and fasting proinsulin levels in 10,701 nondiabetic adults of European ancestry, with follow-up of 23 loci in up to 16,378 individuals, using additive genetic models adjusted for age, sex, fasting insulin, and study-specific covariates. RESULTS: Nine SNPs at eight loci were associated with proinsulin levels (P < 5 × 10(-8)). Two loci (LARP6 and SGSM2) have not been previously related to metabolic traits, one (MADD) has been associated with fasting glucose, one (PCSK1) has been implicated in obesity, and four (TCF7L2, SLC30A8, VPS13C/C2CD4A/B, and ARAP1, formerly CENTD2) increase T2D risk. The proinsulin-raising allele of ARAP1 was associated with a lower fasting glucose (P = 1.7 × 10(-4)), improved β-cell function (P = 1.1 × 10(-5)), and lower risk of T2D (odds ratio 0.88; P = 7.8 × 10(-6)). Notably, PCSK1 encodes the protein prohormone convertase 1/3, the first enzyme in the insulin processing pathway. A genotype score composed of the nine proinsulin-raising alleles was not associated with coronary disease in two large case-control datasets. CONCLUSIONS: We have identified nine genetic variants associated with fasting proinsulin. Our findings illuminate the biology underlying glucose homeostasis and T2D development in humans and argue against a direct role of proinsulin in coronary artery disease pathogenesis
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.
- Biagetti Carl P.
- Birkmann Stephan
- Bjorklund Kurt F.
- Blackwood James D.
- Blazek Ronald Paul
- Blossfeld Stephen
- Bluth Marcel
- Boccaletti Anthony
- Boegner Jr. Martin E.
- Bohlin Ralph C.
- Boia John Joseph
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- Bond Nicholas A.
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- Rehm Brian
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- Reid Neill
- Reis Alain Conde
- Reis Carl A.
- Renk Florian
- Reoch Tom B.
- Ressler Michael
- Rest Armin W.
- Reynolds Paul J.
- Richon Joel G.
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- Ridgaway Michael
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- Ringel Nancy J.
- Ritchie Christine E.
- Rix Hans-Walter
- Robberto Massimo
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- Romelfanger Frederick J.
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- Rosales Jose J.
- Rose Perry
- Roteliuk Anthony F.
- Roth Marc N.
- Rothwell Braden Quinn
- Rouzaud Sylvain
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- Roy Arpita
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- Rui Chunlei
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- Sabata Modhumita
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- Sabbi Elena
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- Salvignol Jean-Christophe
- Samara-Ratna Piyal
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- Sanders Felicia A.
- Santos Tony Dos
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- Sauer Arne
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- Sawicki Marcin
- Schappell Tina M.
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- Scheithauer Silvia
- Scherer Ron
- Schiff Conrad
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- Schneider Analyn
- Schreiber Jürgen
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- Seely Bruce S.
- Seery Bernard
- Seidleck Mark
- Sembach Kenneth
- Shanahan Clare Elizabeth
- Shaughnessy Bryan
- Shaw Richard A.
- Shay Christopher Michael
- Sheehan Even
- Sheth Kartik
- Shih Hsin-Yi
- Shivaei Irene
- Siegel Noah
- Sienkiewicz Matthew G.
- Simmons Debra D.
- Simon Bernard P.
- Sirianni Marco
- Sivaramakrishnan Anand
- Slade Jeffrey E.
- Sloan G. C.
- Slocum Christine E.
- Slowinski Steven E.
- Smith Corbett T.
- Smith Eric P.
- Smith Erin C.
- Smith Koby
- Smith Robert
- Smith Stephanie J.
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- Soderblom David R.
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- Sonneborn George
- Sontag Christopher D.
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- Southwood Dana M.
- Spain Kay
- Sparmo Joseph
- Speer David T.
- Spencer Richard
- Sprofera Joseph D.
- Stallcup Scott S.
- Stanley Marcia K.
- Stansberry John A.
- Stark Christopher C.
- Starr Carl W.
- Stassi Diane Y.
- Steck Jane A.
- Steeley Christine D.
- Stephens Matthew A.
- Stephenson Ralph J.
- Stewart Alphonso C.
- Stiavelli Massimo
- Stockman Jr. Hervey
- Strada Paolo
- Straughn Amber N.
- Streetman Scott
- Strickland David Kendal
- Strobele Jingping F.
- Stuhlinger Martin
- Stys Jeffrey Edward
- Such Miguel
- Sukhatme Kalyani
- Sullivan Joseph F.
- Sullivan Pamela C.
- Sumner Sandra M.
- Sun Fengwu
- Sunnquist Benjamin Dale
- Swade Daryl Allen
- Swam Michael S.
- Swenton Diane F.
- Swoish Robby A.
- Tamas Laszlo
- Tao Andrew
- Taylor David K.
- Taylor Joanna M.
- Teague Kelly K.
- Telfer Randal C.
- Temim Tea
- Texter Scott C.
- Thatte Deepashri G.
- Thompson Christopher Lee
- Thompson Linda M.
- Thomson Shaun R.
- Thronson Harley
- Tierney C. M.
- Tikkanen Tuomo
- Tinnin Lee
- Tippet William Thomas
- Todd Connor William
- Tran Hien D.
- Trauger John
- Trejo Edwin Gregorio
- Truong Justin Hoang Vinh
- Tsukamoto Christine L.
- Tufail Yasir
- Tumlinson Jason
- Tustain Samuel
- Tyra Harrison
- Ubeda Leonardo
- Underwood Kelli
- Uzzo Michael A.
- Vaclavik Steven
- Valenduc Frida
- Valenti Jeff A.
- Van Campen Julie
- van de Wetering Inge
- Van Der Marel Roeland P.
- van Dishoeck Ewine F.
- van Haarlem Remy
- Van Tea Mason
- Vandenbussche Bart
- Vanterpool Dona D.
- Vernoy Michael R.
- Volk Kevin
- Voorzaat Piet
- Voyton Mark F.
- Vydra Ekaterina
- Waddy Darryl J.
- Waelkens Christoffel
- Wahlgren Glenn Michael
- Walker Jr. Frederick E.
- Wander Michel
- Warfield Christine K.
- Warner Gerald
- Wasiak Francis C.
- Wasiak Matthew F.
- Wehner James
- Weiler Kevin R.
- Weilert Mark
- Weiss Stanley B.
- Wells Martyn
- Welty Alan D.
- Wheate Lauren
- Wheeler Thomas P.
- White Christy L.
- Whitehouse Paul
- Whiteleather Jennifer Margaret
- Whitman William Russell
- Williams Christina C.
- Willmer Christopher N. A.
- Willott Chris J.
- Willoughby Scott P.
- Wilson Andrew
- Wilson Debra
- Wilson Donna V.
- Windhorst Rogier
- Wislowski Emily Christine
- Wolfe David J.
- Wolfe Michael A.
- Wolff Schuyler
- Wondel Amancio
- Woo Cindy
- Woods Robert T.
- Worden Elaine
- Workman William
- Wright Gillian S.
- Wu Carl
- Wu Chi-Rai
- Wun Dakin D.
- Wymer Kristen B.
- Yadetie Thomas
- Yan Isabelle C.
- Yang Keith C.
- Yates Kayla L.
- Yeager Christopher R.
- Yerger Ethan John
- Young Erick T.
- Young Gary
- Yu Gene
- Yu Susan
- Zak Dean S.
- Zeidler Peter
- Zepp Robert
- Zhou Julia
- Zincke Christian A.
- 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
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
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- Brian Craft
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- Brice Aminou
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- Carmen Gomez
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- Carolyn M Hutter
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- 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
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- Chris Mitchell
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- Christiane Buchholz
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- Christof von Kalle
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- Christoph Plass
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- 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
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- Danielle Pasternack
- Darell Bigner
- Dariush Etemadmoghadam
- Darlene Lee
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- Dave Larson
- David A Wheeler
- David A Wheeler
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- Dido Lenze
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- Ding
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- Eigo Shimizu
- Ekta Khurana
- Elaine R Mardis
- Electron Kebebew
- Elena Piñeiro-Yáñez
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- Elias Campo
- Elisabet Barrera
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- Elli Papaemmanuil
- Ellrott Kyle
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- 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
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- Felicity Newell
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- Fernanda Amary
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- 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
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- Giuseppe Malleo
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- Gordon B Mills
- Gordon B Mills
- Gordon Saksena
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- 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
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- Hardeep K Nahal-Bose
- Hark Kyun Kim
- HarshaVardhan Doddapaneni
- Hartmut Juhl
- Harvey Pass
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- Hayley J Luxton
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- Heather K Schmidt
- Heather Thorne
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- Heidi Sofia
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- Helena Kilpinen
- Helene Kretzmer
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- Henk G Stunnenberg
- Henrik Hornshøj
- Henry Lee-Six
- Hideki Ohdan
- Hidenori Ojima
- Hidewaki Nakagawa
- Hikmat Al-Ahmadie
- Hilda A Pickett
- Hirofumi Rokutan
- Hirokazu Taniguchi
- Hiroki Yamaue
- Hiroko Tanaka
- Hiromi Nakamura
- Hiroshi Aikata
- Hiroto Katoh
- Hiroyuki Aburatani
- Hitoshi Katai
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- Holmfridur Hilmarsdottir
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- Hong Xue
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- Hongwei Zhang
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- Hsiao-Wei Chen
- Huanming Yang
- Hugh Barr
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- Husen M Umer
- Huy Q Dinh
- Hyung-Lae Kim
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- Hyung-Yong Kim
- Hyunghwan Kim
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- Li Shantao
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- Liangtao Zheng
- Lieven P C Verbeke
- Lihua Zou
- Liis Uusküla-Reimand
- Liliana Greger
- Liming Yang
- Lin Li
- Lina Sieverling
- Lina Wadi
- Lincoln D Stein
- Linda Mileshkin
- Linghua Wang
- LiRehan Akbani
- Lisa Lype
- Lisa Mirabello
- Lisle E Mose
- Liu Xi
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- Lixing Yang
- Lora Lewis
- Lorenz H P Trümper
- Loretta M S Lau
- Lori Boice
- Loris Mularoni
- Lorraine A Chantrill
- Louis Letourneau
- Luc Dirix
- Luca Landoni
- Luca Malcovati
- Lucas Lochovsky
- Lucila Ohno-Machado
- Lucinda A Fulton
- Lucy Matthews
- Lucy Stebbings
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- Maciej Wiznerowicz
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- Malene Juul
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- Marc Zapatka
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- Marcel Smid
- Marcin Imielinski
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- Marco Miotto
- Marcus Bosenberg
- Marek Cmero
- Maria Elisabeth Goebler
- Maria Keays
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- Maria Vittoria Davi
- Marie-Laure Yaspo
- Marina Pajic
- Mario Berrios
- Mario Cazzola
- Marius Rohde
- Mark A Rubin
- Mark B Gerstein
- Mark B Gerstein
- Mark H Wright
- Mark Lathrop
- Mark P Hamilton
- Mark Phillips
- Mark Pinese
- Mark Shackleton
- Markus B Schilhabel
- Markus Kreuz
- Markus Loeffler
- Markus Ringnér
- Marta Aymerich
- Marta Gut
- Marta Paczkowska
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- Martin Hansmann
- Martin L Ferguson
- Martin Peifer
- Mary J Goldman
- Masakazu Yamamoto
- Masaki Ueno
- Masashi Fujita
- Masashi Fukayama
- Matteo Fassan
- Matthew A Field
- Matthew A Reyna
- Matthew D Wilkerson
- Matthew Eldridge
- Matthew G Cordes
- Matthew G Soloway
- Matthew H Bailey
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- Matthew J Anderson
- Matthew Meyerson
- Matthew R Huska
- Matthew Ringel
- Matthew W Fittall
- Matthias Bieg
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- Matthias Schlesner
- Matthias Schlesner
- Mattia Bosio
- Maxime Tarabichi
- Maximillian G Marin
- Mayuko Furuta
- Mei Huang
- Melpomeni Kasapi
- Meyerson William U
- Mi Ni Huang
- Mia Nastic
- Michael A Hollingsworth
- Michael Birrer
- Michael C Heinold
- Michael C Heinold
- Michael C Quinn
- Michael C Wendl
- Michael C Wendl
- Michael D McLellan
- Michael D McLellan
- Michael D McLellan
- Michael Dunn
- Michael Fraser
- Michael H A Roehrl
- Michael Hummel
- Michael Ittmann
- Michael Kneba
- Michael Koscher
- Michael Mayo
- Michael R Stratton
- Michael S Lawrence
- Michael S Noble
- Michele Milella
- Michele Simbolo
- Michelle Chan-Seng-Yue
- Michelle Sam
- Michelle T Dow
- Miguel Betancourt
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- Ming Tsao
- Miranda D Stobbe
- Miranda D Stobbe
- Miriam R Aure
- Miruna Balasundaram
- Mitsuhiro Komura
- Mohamed Helmy
- Mohammed Ghori
- Moiz S Bootwalla
- Monika Szczepanowski
- Monique Albert
- Montserrat Puiggròs
- Montserrat Puiggròs
- Morgan L Taschuk
- Moritz Gerstung
- Morten Muhlig Nielsen
- Morten Muhlig Nielsen
- Murat Iskar
- Myron Peto
- Myron Peto
- Nadia Traficante
- Nagarajan Paramasivam
- Nagarajan Paramasivam
- Naoki Miyoshi
- Naomi Livni
- Naoto T Ueno
- Narong Khuntikeo
- Nasa Sinnott-Armstrong
- Nasra H Giama
- Natalie Jäger
- Natalie Jäger
- Natalie R Davidson
- Natalie S Fox
- Natalie Saini
- Nathan A Pennell
- Natsuko Hama
- Naveen Vasudev
- Nebojsa Tijanic
- Neesha C Dhani
- Neil D Merrett
- Neil E Fleshner
- Nening M Dennis
- Niall J Byrne
- Nic Jones
- Nicholas D Socci
- Nicholas J Haradhvala
- Nicholas K Hayward
- Nicholas Petrelli
- Nicholas van As
- Nick M Waddell
- Nicola D Roberts
- Nicola Grehan
- Nicola Sperandio
- Nicola Waddell
- Nicole Cloonan
- Nidhan K Biswas
- Niedzica Camacho
- Nigel B Jamieson
- Nikita Desai
- Nikolajs Zeps
- Nikolaus Schultz
- Nikos Sidiropoulos
- Nilanjan Chatterjee
- Nilgun Donmez
- Nils Gehlenborg
- Nimish C Shah
- Nina Habermann
- Nina Thiessen
- Nischalan Pillay
- Nishant Agrawal
- Nobuyoshi Hiraoka
- Nodirjon Fayzullaev
- Noreen Dhalla
- Nuno A Fonseca
- Ofer Shapira
- Ola Myklebost
- Ole Ammerpohl
- Ole Christian Lingjærde
- Olga Potapova
- Olga Tucker
- Olga Zaikova
- Oliver Drechsel
- Oliver Drechsel
- Oliver F Bathe
- Oliver Hofmann
- Oliver Holmes
- Oliver Spiro
- Oliver Stegle
- Olivier Delaneau
- Olivier Harismendy
- Oriol Pich
- P Andrew Futreal
- Pablo Landgraf
- Paolo Pederzoli
- Pardeep Kumar
- Paresh Vyas
- Partha P Majumder
- Patrick D McGillivray
- Patrick Tan
- Patrick Tarpey
- Paul A Edwards
- Paul A Northcott
- Paul Brennan
- Paul C Boutros
- Paul C Boutros
- Paul Flicek
- Paul M Waring
- Paul N Span
- Paul T Spellman
- Paul Weinberger
- Pavana Anur
- Pavana Anur
- Payal Sipahimalani
- Paz Polak
- Pei Lin
- Pelvender Gill
- Petar Radovic
- Peter A Johansson
- Peter Clapham
- Peter F Stadler
- Peter Hersey
- Peter J Bailey
- Peter J Campbell
- Peter J Park
- Peter Lichter
- Peter Möller
- Peter O'Donnell
- Peter Staib
- Peter T Simpson
- Peter Van Loo
- Peter Vermeulen
- Peter W Laird
- Philip Awadalla
- Philip C Rosenstiel
- Phillip H Lai
- Ping Shang
- Piotr A Mieczkowski
- Prashant Bavi
- Pratiti Bandopadhayay
- Priyanka Dhingra
- Prue A Cowin
- Qi Wang
- Qian Xiang
- Qiang Pan-Hammarström
- Qianyun Guo
- Qinying Xu
- Quaid D Morris
- R Houston Thompson
- R Jay Mashl
- R Jay Mashl
- Rabea Wagener
- Radhakrishnan Sabarinathan
- Raja Seethala
- Rajiv Dhir
- Rajiv Sarin
- Ralf Küppers
- Ralph H Hruban
- Ralph Scully
- Ramaswamy Govindan
- Rameen Beroukhim
- Randi Istrup Juul
- Raquel Rabionet
- Raunak Shrestha
- Ravikiran Vedururu
- Reanne Bowlby
- Rebecca A Dagg
- Rebecca C Fitzgerald
- Rebecca Carlsen
- Rebecca Shepherd
- Rehan Akbani
- Reiner Siebert
- Ren X Sun
- Reyka Jayasinghe
- Ricardo De Paoli-Iseppi
- Ricardo E Vilain
- Rich Boyce
- Richard A Gibbs
- Richard A Moore
- Richard A Scolyer
- Richard F Kefford
- Richard K Wilson
- Richard Sallari
- Richard Turkington
- Rita T Lawlor
- Ritika Kundra
- Robert A Holt
- Robert C Grant
- Robert Cerfolio
- Robert E Denroche
- Robert G Bristow
- Robert L Grossman
- Robert Petryszak
- Robert S Fulton
- Robert S Fulton
- Roberto Salgado
- Roberto Salvia
- Roberto Tirabosco
- Robyn P M Saw
- Roelof Koster
- Roland Eils
- Roland Eils
- Roland F Schwarz
- Rolf Kabbe
- Romina Royo
- Romina Royo
- Ronald Ghossein
- Ronald Simon
- Ronny Drapkin
- Rory Johnson
- Rosa Karlić
- Rosalind A Eeles
- Rosamonde E Banks
- Roy Tarnuzzer
- Ruben M Drews
- Rui Xing
- Rui Yamaguchi
- Ruian Shi
- Russell R Broaddus
- S Cenk Sahinalp
- S Cenk Sahinalp
- S M Ashiqul Islam
- Sabina Signoretti
- Sagedeh Shahabi
- Saianand Balu
- Saksena Gordon
- Salem Malikic
- Salvatore Paiella
- Sam Behjati
- Samantha Bersani
- Samantha J Caesar-Johnson
- Samirkumar B Amin
- Samuel Aparicio
- Samuel R Meier
- Samuel Singer
- Sancha Martin
- Sandra E Edwards
- Sandrine Boyault
- Sandro Morganella
- Sangeetha Kalimuthu
- Sanja Mijalkovic
- Santiago Gonzalez
- Santiago Gonzalez
- Sara Cingarlini
- Sara Sadeghi
- Sarah Minner
- Sarah O'Meara
- Sarah P Thayer
- Sarah Pinder
- Sarah Thomas
- Sarah-Jane Schramm
- Satoru Miyano
- Satoshi Hirano
- Savitri Krishnamurthy
- Scott Frazer
- Scott Wood
- Se Jin Jang
- Sean Cleary
- Sean M Grimmond
- Sebastian M Waszak
- Sebastian M Waszak
- Seiya Imoto
- Seong Gu Heo
- Serap Erkek
- Serena Nik-Zainal
- Serge Serge
- Sergei Yakneen
- Sergei Yakneen
- Sergi Beltran
- Sergio Pulido-Tamayo
- Seung Jun Shin
- Seung-Hyup Jeon
- Shadrielle M G Espiritu
- Shadrielle M G Espiritu
- Shailja Gupta
- Shankar Vembu
- Shanlin Yang
- Shantao Li
- Shaoke Lou
- Shaolong Cao
- Shaowu Meng
- Sharmila Sothi
- Shaun R Preston
- Sheila M Reynolds
- Sheila M Reynolds
- Sheng-Ben Liang
- Shengjie Gao
- Shengjie Gao
- Shida Zhu
- Shimin Shuai
- Shinichi Mizuno
- Shinichi Yachida
- Shinya Hayami
- Shogo Yamamoto
- Shona MacRae
- Shriram G Bhosle
- Shuai Ding
- Shumpei Ishikawa
- Shun-Ichi Ariizumi
- Shuto Hayashi
- Sian Fereday
- Siegfried Haas
- Sietse Aukema
- Siliang Li
- Simon C Heath
- Simon L Parsons
- Simon Mayes
- Simon Tavaré
- Simpson Jared T
- Singer Ma
- Sinisa Ivkovic
- Sissel Juul
- Solomon I Shorser
- Sonia Grimaldi
- Sonia Puig
- Stacey B Gabriel
- Stefan C Dentro
- Stefan G Stark
- Stefan M Pfister
- Stefan Schreiber
- Stefania Tommasi
- Stefano Barbi
- Stefano Serra
- Stephan H Bernhart
- Stephan Ossowski
- Stephan Ossowski
- Stephan Stilgenbauer
- Stephan Wolf
- Stephanie Sungalee
- Stephen B Baylin
- Stephen H Kazakoff
- Stephen J Chanock
- Stephen J Hayes
- Stephen M Cordner
- Stephenie D Prokopec
- Steve Hawkins
- Steve Hoffmann
- Steven A Roberts
- Steven E Schumacher
- Steven Foltz
- Steven G Rozen
- Steven Gallinger
- Steven Hazell
- Steven J M Jones
- Steven J Newhouse
- Steven Van Laere
- Stian Knappskog
- Stuart Edmonds
- Stuart R Jefferys
- Su Pin Choo
- Subhajit Sengupta
- Sue Merson
- Suet-Feung Chin
- Sultan T Al-Sedairy
- Sung-Min Ahn
- Sung-Soo Yoon
- Sunghoon Cho
- Sunil R Lakhani
- Suresh Ramalingam
- Susan Bullman
- Susanna L Cooke
- Sushant Kumar
- Sushant Kumar
- Suyash S Shringarpure
- Syed Haider
- Sylvia Asa
- Søren Brunak
- Takafumi N Yamaguchi
- Takafumi N Yamaguchi
- Takanori Hasegawa
- Takashi Yugawa
- Takashi Yugawa
- Takuji Okusaka
- Tal Shmaya
- Tannistha Nandi
- Taobo Hu
- Taobo Hu
- Tapio Visakorpi
- Tara J Skelly
- Tari A King
- Tatsuhiko Tsunoda
- Tatsuhiro Shibata
- Ted R Hupp
- Tetsuo Ushiku
- Theodorus Van der Kwast
- Thomas E Carey
- Thomas J Hudson
- Thomas J Matthew
- Thomas J Mitchell
- Thorsten Schlomm
- Thorsten Zenz
- Tian Xia
- Tim Dudderidge
- Tim Ley
- Timothy A Beck
- Timothy Defreitas
- Timothy J C Bruxner
- Timothy J Underwood
- Tina Wong
- Tirso Pons
- Tobias Madsen
- Tobias Rausch
- Todd A Johnson
- Todd D Pihl
- Tom Bodenheimer
- Tom Mikkelsen
- Tom Roques
- Tomas J Tanskanen
- Tomas Marques-Bonet
- Tomoko Urushidate
- Torill Sauer
- Toru Nakamura
- Treasa A McPherson
- Troy Shelton
- Tsun-Po Yang
- Ultan McDermott
- Umadevi Veluvolu
- Umut H Toprak
- Valerie Jakrot
- Varsha Tembe
- Vasilisa A Rudneva
- Venkata D Yellapantula
- Venkata D Yellapantula
- Vera B Kaiser
- Veronica Y Sabelnykova
- Victor Reuter
- Vikram Deshpande
- Viktoriya Korchina
- Ville Mustonen
- Vinayak Bhandari
- Vincent Ferretti
- Vincent Huang
- Vincent Huang
- Vincent J Gnanapragasam
- Vincent Khoo
- Vincenzo Corbo
- Vishal S Chandan
- Volker Hovestadt
- W Kimryn Rathmell
- W M Linehan
- Walker Hale
- Wan Choi
- Wanding Zhou
- Wang Liang-Bo
- Weerasinghe Amila
- Wei Jiao
- Wendl Michael C
- Wenyi Wang
- Wenyi Wang
- Wenyi Wang
- Wheeler David A
- William B Isaacs
- William C Faquin
- William Friedman
- William Howat
- William U Meyerson
- Willie Yu
- Winghing Wong
- Wojciech Bazant
- Wolfgang Huber
- Wolfram Klapper
- Xavier Estivill
- Xavier Pivot
- Xiao Xiao
- Xiaobo Li
- Xiaoping Su
- Xiaotong Li
- Xiaotong Yao
- Xing Hua
- Xingmin Liu
- Xinyue Li
- Xiuqing Zhang
- Xiuqing Zheng
- Xose S Puente
- Xuan Le
- Xuanping Zhang
- Xuemei Luo
- Xueqing Zou
- Yan Shi
- Yan Zhang
- Yang Wu
- Yang Yang
- Yann Joly
- Yanxun Xu
- Yao He
- Yasin Senbabaoglu
- Yassen Assenov
- Yasser Riazalhosseini
- Yasuhito Arai
- Yasushi Rino
- Yasushi Totoki
- Yeng Ang
- Yi Huang
- Yi Huang
- Yifei Men
- Yiling Lu
- Yilong Li
- Yingyan Yu
- Yiwen Chen
- Yogesh Kumar
- Yogesh Kumar
- Yoke-Eng Chiew
- Yong Hou
- Yong Zhou
- Yong-Jie Lu
- Yongzhan Nie
- Yosef E Maruvka
- Yosef E Maruvka
- Yoshiiku Kawakami
- Young Seok Ju
- Youngchoon Woo
- Youngil Koh
- Youngwook Kim
- Youyong Lu
- Yu Fan
- Yu Fan
- Yu Fan
- Yu-Jia Shiah
- Yuan Ji
- Yuan Yuan
- Yuichi Shiraishi
- Yulia Newton
- Yulia Rubanova
- Yumeng Wang
- Yupeng Cun
- Yussanne Ma
- Zachary Heins
- Zechen Chong
- Zechen Chong
- Zemin Zhang
- Zhaohong Chen
- Zhenggang Wu
- Zhenggang Wu
- Zhining Wang
- Zhongming Zhao
- Ziao Lin
- Zsofia Kote-Jarai
- Ólafur Andri Stefánsson
- Øystein Garred
- Publication venue
- Nature Communications
- Publication date
- 01/01/2020
- Field of study
Funder: NCI U24CA211006Abstract: The Cancer Genome Atlas (TCGA) and International Cancer Genome Consortium (ICGC) curated consensus somatic mutation calls using whole exome sequencing (WES) and whole genome sequencing (WGS), respectively. Here, as part of the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium, which aggregated whole genome sequencing data from 2,658 cancers across 38 tumour types, we compare WES and WGS side-by-side from 746 TCGA samples, finding that ~80% of mutations overlap in covered exonic regions. We estimate that low variant allele fraction (VAF < 15%) and clonal heterogeneity contribute up to 68% of private WGS mutations and 71% of private WES mutations. We observe that ~30% of private WGS mutations trace to mutations identified by a single variant caller in WES consensus efforts. WGS captures both ~50% more variation in exonic regions and un-observed mutations in loci with variable GC-content. Together, our analysis highlights technological divergences between two reproducible somatic variant detection efforts
Abstracts of the 3rd Annual Graduate Entry Research in Medicine Conference
- Author
- Abbie Tutt
- Adrian McGrath
- Adrian McGrath
- Adrian McGrath
- Ali Ridha
- Alice Eaton
- Amy Sewell
- Andrea Sargent
- Andrew MacFarlane
- Andrews Nketiah
- Ann Erikson
- Anne-Marie Slowther
- Aoife Moffatt
- Arasaradnam Ramesh
- Bassel Wattar
- Beth Agnew
- Beth Woodward
- Birgit Fruhstorfer
- Brighton
- Brosens
- Caleb R Johnson
- Callum George
- Cameron Meades
- Cappuccio Francesco P
- Cassandra Baiano
- Cassandra X Baiano
- Cassandra X Baiano
- Cellan Liiv
- Chandrapalan Subashini
- Charlotte Taylor
- Chloe Argent
- Chloe Haynes
- Clarissa Brierley
- Cunningham Charlie D G
- Cyprian Mendonca
- Dawn R Collins
- Dilan Parmar
- Eleanor Dewhurst
- Elena Whiteman
- Elinor Clarke
- Emily Róisín Reid
- Emily Wade
- Emma Andrews
- Emma Brandstatter
- Emma Fletcher
- Emma Scott
- Emma Scott
- Emma Scott
- Evangelos Vryonis
- Favian Narrainen
- Felicity Davies
- Frances Griffiths
- Francesca Claridge-Owen
- Francesco Cappuccio
- Gabriela Anna Barzyk
- Gadie Andrew
- George Hawker
- Georgia Gray
- Geraldine Hartshorne
- Gopiga Thanabalasundaram
- Gursharun Kaur Hayer
- Hannah Blades
- Hannah Morgan
- Heather Morris
- Helen Nolan
- Helena Coker
- Iain MacPherson
- Imogen McMurray
- Isa Hassan
- Isobel Roberts Rajoo
- Jade Wilmot
- James Michael Barrett
- Jan J
- Jayne Ward
- Jennifer H Nobes
- Jennifer R Shone
- Jennifer Reay
- Jeremy Dale
- Jeremy Dale
- Jeremy Dale
- Jessica Quimpo
- Jishoden Padiachy
- John F Dillon
- John MacArtney
- Jordan Moss
- Joseph Garnett
- Joshua Clayton
- Joshua Odendaal
- Karar Ali
- Katie McLean
- Katie-Louise Berwick
- Kayleigh Nicholson
- Khan Ilyas M
- Laura Skeldon
- Laura Wheeler
- Lauren Grahame
- Leila Ellis
- Lidia Cilcic
- Lina Hasisen
- Lincoln Leehang Lau
- Louise Elizabeth Edwards
- Lucy Chapman
- Madeleine M Caven
- Mann
- Mary Rose Harvey
- Maxwell Renna
- McGrath Adrian
- Mihari de Soysa
- Natasha Bechman
- Nicholas Lowe
- Nigel E Drury
- Oana Ciocanel
- Oliver N
- Omair Shabir
- Patel Abhilasha
- Paul
- Rani Issac
- Reid Emily R
- Rhiannon White
- Rhiannon White
- Rhiannon White
- Richard Motley
- Robert Hooper
- Rogan Dean
- Ronald MacDonald
- Rosie Hall
- Sallu Dawo
- Samson Arokiyanathan
- Sandeep Solanki
- Saran Shantikumar
- Serkan Cakir
- Seung Gwan Ryoo
- Siobhan Quenby
- Sophie Hopkins
- Stefani Eames
- Stela Ziaj
- Stephanie Opara
- Suvarna Alladi
- Tabbasum Zaman
- Tabitha Francis
- Tehreem Khan
- Thomas Dale MacLaine
- Thomas Dale MacLaine
- Todd James Cooper
- Tommer Spence
- Tracey Langham
- Vanashree Sexton
- Victor Zammit
- Vivek Furtado
- Vjeran Cajic
- Vrinda Ohri
- Yasmeen Hassan Al Sadek
- Zanelli Jasmine
- Zohaib Sajid
- Publication venue
- AIJR Books
- Publication date
- 30/12/2020
- Field of study
This book contains the abstracts of the papers presented at The 3rd Annual Graduate Entry Research in Medicine Conference (GERMCON 2020) Organized by Warwick Medical School, University of Warwick in collaboration with Swansea University Medical School, Swansea University, Wales, UK held on 12–18 October 2020. This was especially important for Graduate Entry Medical (GEM) students, who have less opportunity and time to engage in research due to their accelerated medical degree.
Conference Title: 3rd Annual Graduate Entry Research in Medicine ConferenceConference Acronym: GERMCON 2020Conference Date: 12–18 October 2020Conference Location: Online (Virtual Mode)Conference Organizer: Warwick Medical School, University of Warwick, UKCo-organizer: Swansea University Medical School, Swansea University, Wales, UK
Other Abstract Book of GERMCON: Abstracts of the 4th Annual Graduate Entry Research in Medicine Conferenc
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
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- Sushant Kumar
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- Yogesh Kumar
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- 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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Sex differences in oncogenic mutational processes
- 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.
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- Xi Liu
- Xia Tian
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- Xiao Xiao
- Xing Rui
- Xiong Heng
- Xu Qinying
- Xu Yanxun
- Xue Hong
- Yachida Shinichi
- Yakneen Sergei
- Yamaguchi Rui
- Yamaguchi Takafumi N.
- Yamamoto Masakazu
- Yamamoto Shogo
- 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 Bin
- Zhu Hongtu
- Zhu Jingchun
- Zhu Shida
- Zou Lihua
- Zou Xueqing
- Publication venue
- Nature Communications
- Publication date
- 28/08/2020
- Field of study
Funder: Canadian Network for Research and Innovation in Machining Technology, Natural Sciences and Engineering Research Council of Canada (NSERC Canadian Network for Research and Innovation in Machining Technology); doi: https://doi.org/10.13039/501100002790Funder: Genome Canada (Génome Canada); doi: https://doi.org/10.13039/100008762Funder: Canada Foundation for Innovation (Fondation canadienne pour l'innovation); doi: https://doi.org/10.13039/501100000196Funder: Terry Fox Research Institute (Institut de Recherche Terry Fox); doi: https://doi.org/10.13039/501100004376Abstract: Sex differences have been observed in multiple facets of cancer epidemiology, treatment and biology, and in most cancers outside the sex organs. Efforts to link these clinical differences to specific molecular features have focused on somatic mutations within the coding regions of the genome. Here we report a pan-cancer analysis of sex differences in whole genomes of 1983 tumours of 28 subtypes as part of the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium. We both confirm the results of exome studies, and also uncover previously undescribed sex differences. These include sex-biases in coding and non-coding cancer drivers, mutation prevalence and strikingly, in mutational signatures related to underlying mutational processes. These results underline the pervasiveness of molecular sex differences and strengthen the call for increased consideration of sex in molecular cancer research
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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
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- Yachida Shinichi
- Yakneen Sergei
- Yamaguchi Rui
- Yamaguchi Takafumi N.
- Yamamoto Masakazu
- Yamamoto Shogo
- Yamaue Hiroki
- Yang Fan
- Yang Huanming
- Yang Jean Y.
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- Yang Lixing
- Yang Shanlin
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- 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
Sex differences in oncogenic mutational processes
- Author
- A Gordon Robertson
- Abdullah Kahraman
- Abel Gonzalez-Perez
- Adam A Margolin
- Adam Abeshouse
- Adam Grundhoff
- Adam J Struck
- Adam J Wright
- Adam Lambert
- Adam Margolin
- Adam P Butler
- Adel El-Naggar
- Adnan M Nagrial
- Adrian Ally
- Adrian Baez-Ortega
- Adrian Thorogood
- Adriana Salcedo
- Adrienne M Flanagan
- Ake Borg
- Akihiro Fujimoto
- Akihiro Suzuki
- Akinyemi I Ojesina
- Alain Viari
- Alan J Robertson
- Alan P Hoyle
- Alan Thompson
- Alasdair Stenhouse
- Alastair M Thompson
- Aldo Scarpa
- Alessandro Pastore
- Alex Buchanan
- Alexander Claviez
- Alexander J Lazar
- Alexander J Lazar
- Alexander Martinez-Fundichely
- Alfonso Muñoz
- Alfonso Valencia
- Aliaksei Z Holik
- Alice Meng
- Alicia L Bruzos
- Allison P Heath
- Alvin Wei Tian Ng
- Alvis Brazma
- Amaro Taylor-Weiner
- Amber L Johns
- Amit G Deshwar
- Ana Dueso-Barroso
- Ana Mijalkovic Mijalkovic-Lazic
- Ana Milovanovic
- Andre Kahles
- Andrea Haake
- Andrea Holbrook
- Andrea L Richardson
- Andrea Mafficini
- Andrea Ruzzenente
- Andreas Behren
- Andreas Rosenwald
- Andreia V Pinho
- Andrew Berchuck
- Andrew D Cherniack
- Andrew J Dunford
- Andrew J Mungall
- Andrew J Spillane
- Andrew Menzies
- Andrew P Barbour
- Andrew Tutt
- Andrew V Biankin
- Andrew V Biankin
- Andrey Korshunov
- Andrés Lanzós
- Andy Cafferkey
- Andy G Lynch
- Angela Chou
- Angela N Brooks
- Angela Tam
- Angelica Ochoa
- Angelika N Christ
- Angelo P Dei Tos
- Anieta M Sieuwerts
- Anil K Sood
- Anita Langerød
- Anja Füllgrabe
- Anke K Bergmann
- Ann-Marie Patch
- Anna deFazio
- Anna Ehinger
- Anna Fitzgerald
- Anne Hamilton
- Anne Vincent-Salomon
- Anne Y Warren
- Anne-Lise Børresen-Dale
- Annegien Broeks
- Anthony DiBiase
- Anthony J Gill
- Anthony Ng
- Anthony R Green
- Antonia L Pritchard
- Antonio Pea
- Antonios Koures
- Aparna Prasad
- Apurva M Hegde
- Aquila Fatima
- Arcadi Navarro
- Arie B Brinkman
- Arif O Harmanci
- Arindam Maitra
- Armando Lopez-Guillermo
- Arndt Borkhardt
- Arnoud Boot
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- Steven G Rozen
- Steven Gallinger
- Steven Hazell
- Steven J M Jones
- Steven J Newhouse
- Steven Van Laere
- Stian Knappskog
- Stuart Edmonds
- Stuart R Jefferys
- Su Pin Choo
- Subhajit Sengupta
- Sue Merson
- Suet-Feung Chin
- Sultan T Al-Sedairy
- Sun Ren X
- Sung-Min Ahn
- Sung-Soo Yoon
- Sunghoon Cho
- Sunil R Lakhani
- Suresh Ramalingam
- Susan Bullman
- Susanna L Cooke
- Susanna L Cooke
- Sushant Kumar
- Suyash S Shringarpure
- Syed Haider
- Syed Haider
- Sylvia Asa
- Søren Brunak
- Takafumi N Yamaguchi
- Takanori Hasegawa
- Takashi Yugawa
- Takashi Yugawa
- Takuji Okusaka
- Tal Shmaya
- Tannistha Nandi
- Taobo Hu
- Tapio Visakorpi
- Tara J Skelly
- Tari A King
- Tatsuhiko Tsunoda
- Tatsuhiro Shibata
- Tatsuhiro Shibata
- Ted R Hupp
- Tetsuo Ushiku
- Theodorus Van der Kwast
- Thomas E Carey
- Thomas J Hudson
- Thomas J Matthew
- Thomas J Mitchell
- Thorsten Schlomm
- Thorsten Zenz
- Tian Xia
- Tim Dudderidge
- Tim Ley
- Timothy A Beck
- Timothy Defreitas
- Timothy J C Bruxner
- Timothy J Underwood
- Tina Wong
- Tirso Pons
- Tobias Madsen
- Tobias Rausch
- Todd A Johnson
- Todd D Pihl
- Tom Bodenheimer
- Tom Mikkelsen
- Tom Roques
- Tomas J Tanskanen
- Tomas Marques-Bonet
- Tomoko Urushidate
- Torill Sauer
- Toru Nakamura
- Treasa A McPherson
- Troy Shelton
- Tsun-Po Yang
- Ultan McDermott
- Umadevi Veluvolu
- Umut H Toprak
- Valerie Jakrot
- Varsha Tembe
- Vasilisa A Rudneva
- Venkata D Yellapantula
- Vera B Kaiser
- Vera B Kaiser
- Veronica Y Sabelnykova
- Victor Reuter
- Vikram Deshpande
- Vikram Deshpande
- Viktoriya Korchina
- Ville Mustonen
- Vinayak Bhandari
- Vincent Ferretti
- Vincent Huang
- Vincent J Gnanapragasam
- Vincent Khoo
- Vincenzo Corbo
- Vishal S Chandan
- Volker Hovestadt
- W Kimryn Rathmell
- W M Linehan
- Wan Choi
- Wanding Zhou
- Wei Jiao
- Wei Jiao
- Wenyi Wang
- William B Isaacs
- William C Faquin
- William C Faquin
- William Friedman
- William Howat
- William Meyerson
- Willie Yu
- Winghing Wong
- Wojciech Bazant
- Wolfgang Huber
- Wolfram Klapper
- Xavier Estivill
- Xavier Pivot
- Xiao Xiao
- Xiaobo Li
- Xiaoping Su
- Xiaotong Li
- Xiaotong Yao
- Xing Hua
- Xingmin Liu
- Xinyue Li
- Xiuqing Zhang
- Xiuqing Zheng
- Xose S Puente
- Xuan Le
- Xuanping Zhang
- Xuemei Luo
- Xueqing Zou
- Yan Shi
- Yan Zhang
- Yang Wu
- Yang Yang
- Yann Joly
- Yanxun Xu
- Yao He
- Yasin Senbabaoglu
- Yassen Assenov
- Yasser Riazalhosseini
- Yasuhito Arai
- Yasushi Rino
- Yasushi Totoki
- Yeng Ang
- Yi Huang
- Yiling Lu
- Yilong Li
- Yingyan Yu
- Yiwen Chen
- Yogesh Kumar
- Yoke-Eng Chiew
- Yong Hou
- Yong Zhou
- Yong-Jie Lu
- Yongzhan Nie
- Yosef E Maruvka
- Yoshiiku Kawakami
- Young Seok Ju
- Youngchoon Woo
- Youngil Koh
- Youngwook Kim
- Yousif Fouad
- Youyong Lu
- Yu Fan
- Yu-Jia Shiah
- Yuan Ji
- Yuan Yuan
- Yuichi Shiraishi
- Yulia Newton
- Yulia Rubanova
- Yumeng Wang
- Yupeng Cun
- Yussanne Ma
- Zachary Heins
- Zechen Chong
- Zemin Zhang
- Zhaohong Chen
- Zhenggang Wu
- Zhining Wang
- Zhongming Zhao
- Ziao Lin
- Zsofia Kote-Jarai
- Ólafur Andri Stefánsson
- Øystein Garred
- Publication venue
- Publication date
- 01/01/2020
- Field of study
Sex differences have been observed in multiple facets of cancer epidemiology, treatment and biology, and in most cancers outside the sex organs. Efforts to link these clinical differences to specific molecular features have focused on somatic mutations within the coding regions of the genome. Here we report a pan-cancer analysis of sex differences in whole genomes of 1983 tumours of 28 subtypes as part of the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium. We both confirm the results of exome studies, and also uncover previously undescribed sex differences. These include sex-biases in coding and non-coding cancer drivers, mutation prevalence and strikingly, in mutational signatures related to underlying mutational processes. These results underline the pervasiveness of molecular sex differences and strengthen the call for increased consideration of sex in molecular cancer research.Sex differences have been observed in multiple facets of cancer epidemiology, treatment and biology, and in most cancers outside the sex organs. Efforts to link these clinical differences to specific molecular features have focused on somatic mutations within the coding regions of the genome. Here we report a pan-cancer analysis of sex differences in whole genomes of 1983 tumours of 28 subtypes as part of the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium. We both confirm the results of exome studies, and also uncover previously undescribed sex differences. These include sex-biases in coding and non-coding cancer drivers, mutation prevalence and strikingly, in mutational signatures related to underlying mutational processes. These results underline the pervasiveness of molecular sex differences and strengthen the call for increased consideration of sex in molecular cancer research.Peer reviewe