24 research outputs found
Association analyses of East Asian individuals and trans-ancestry analyses with European individuals reveal new loci associated with cholesterol and triglyceride levels
- Author
- Absher Devin
- Adair Linda S.
- Akiyama Koichi
- Assimes Themistocles L.
- Aung Tin
- Cai Hui
- Cai Qiuyin
- Cannon Maren E.
- Chang Li-Ching
- Chen Chien-Hsiun
- Chen Peng
- Chen Yuan-Tsong
- Cheng Ching-Yu
- Chien Li-Hsin
- Cho Yoon Shin
- Chuang Lee-Ming
- Chuang Shu-Chun
- Dorajoo Rajkumar
- Du Shufa
- Fan Qiao
- Fann Cathy S.J.
- Feranil Alan B.
- Friedlander Yechiel
- Gordon-Larsen Penny
- Gu Dongfeng
- Gui Lixuan
- Guo Xiuqing
- Guo Zhirong
- Han Bok-Ghee
- He Jiang
- He Meian
- Heng Chew-Kiat
- Hixson James
- Hou Xuhong
- Hsiung Chao Agnes
- Hu Cheng
- Hu Yao
- Huang Wei
- Hwang Mi Yeong
- Hwu Chii-Min
- Ida Chen Yii-Der
- Isono Masato
- Jee Sun-Ha
- Jia Weiping
- Jimmy Juang Jyh-Ming
- Johnson Todd A.
- Jonas Jost B.
- Jung Keum-Ji
- Kato Norihiro
- Katsuya Tomohiro
- Khor Chiea-Chuen
- Kim Bong-Jo
- Kim Young Jin
- Kim Yun Kyoung
- Koh Woon-Puay
- Kubo Michiaki
- Lee I-Te
- Lee Sun-Ju
- Lee Wen-Jane
- Li Huaixing
- Li Shengxu
- Liang Kae-Woei
- Lim Blanche
- Lim Sing-Hui
- Lin Keng-Hung
- Lin Xu
- Liu Jianjun
- Long Jirong
- Mohlke Karen L.
- Moon Sanghoon
- Nabika Toru
- Pan Wen-Harn
- Peng Hao
- Quertermous Thomas
- Rich Stephen S.
- Roman Tamara S.
- Rotter Jerome I.
- Sabanayagam Charumathi
- Salfati Elias
- Sandow Kevin
- Sheu Wayne H.H.
- Shi Jinxiu
- Shu Xiao-Ou
- Sim Xueling
- Spracklen Cassandra N.
- Sun Liang
- Tai E-Shyong
- Takeuchi Fumihiko
- Tan Pok Chien
- Tan Shu-Pei
- Tanaka Toshihiro
- Taylor Kent D.
- Teo Yik-Ying
- Toh Sue-Anne
- Tsunoda Tatsuhiko
- van Dam Rob M.
- Wang Aili
- Wang Feijie
- Wang Jie
- Wang Tzung-Dau
- Wang Xu
- Wang Ya Xing
- Wei Wen Bin
- Wong Tien-Yin
- Wu Jer-Yuarn
- Wu Tangchun
- Wu Ying
- Xiang Yong-Bing
- Yao Jie
- Yuan Jian-Min
- Zhang Rong
- Zhang Yonghong
- Zhao Wanting
- Zheng Wei
- Publication venue
- Publication date
- 01/01/2017
- Field of study
Large-scale meta-analyses of genome-wide association studies (GWAS) have identified >175 loci associated with fasting cholesterol levels, including total cholesterol (TC), high-density lipoprotein cholesterol (HDL-C), low-density lipoprotein cholesterol (LDL-C), and triglycerides (TG). With differences in linkage disequilibrium (LD) structure and allele frequencies between ancestry groups, studies in additional large samples may detect new associations. We conducted staged GWAS meta-analyses in up to 69,414 East Asian individuals from 24 studies with participants from Japan, the Philippines, Korea, China, Singapore, and Taiwan. These meta-analyses identified (P < 5 × 10-8) three novel loci associated with HDL-C near CD163-APOBEC1 (P = 7.4 × 10-9), NCOA2 (P = 1.6 × 10-8), and NID2-PTGDR (P = 4.2 × 10-8), and one novel locus associated with TG near WDR11-FGFR2 (P = 2.7 × 10-10). Conditional analyses identified a second signal near CD163-APOBEC1. We then combined results from the East Asian meta-analysis with association results from up to 187,365 European individuals from the Global Lipids Genetics Consortium in a trans-ancestry meta-analysis. This analysis identified (log10Bayes Factor ≥6.1) eight additional novel lipid loci. Among the twelve total loci identified, the index variants at eight loci have demonstrated at least nominal significance with other metabolic traits in prior studies, and two loci exhibited coincident eQTLs (P < 1 × 10-5) in subcutaneous adipose tissue for BPTF and PDGFC. Taken together, these analyses identified multiple novel lipid loci, providing new potential therapeutic targets
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
- Berenson Gerald S
- 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
- Bolton Judith A Hoffman
- Bonnet Fabrice
- Bonnycastle Lori L
- Boomsma Dorret I
- Borecki Ingrid
- Boright Andrew P
- Borja Judith B
- Bornstein Stefan R
- Boston Jonathan
- Bots Michiel L
- Bouatia-Naji Nabila
- Bouchard Claude
- Bovet Pascal
- Boyd Heather A
- Bragg-Gresham Jennifer L
- Brambilla Paolo
- Brand Eva
- Brand Stefan-Martin
- Brandi Maria Luisa
- Braund Peter S
- Brennan Eoin P
- Brismar Kerstin
- Brody Jennifer
- Broekmans Frank J
- Broer Linda
- Brown Matthew A
- Brown Morris J
- Brown-Gentry Kristin
- Bruinenberg Marcel
- Buchkovich Martin L
- Buckley Brendan M
- Buil Alfonso
- Bull Shelley B
- Burgdorf Christof
- Buring Julie E
- Burnett Mary S
- Burnier Michel
- Burri Andrea
- Burton Paul R
- Bush William S
- Busonero Fabio
- Buxbaum Sarah G
- Buyske Steve
- Buzkova Petra
- Byrne Enda M
- Böger Carsten A
- Böhringer Stefan
- Böttcher Yvonne
- Cambien Francois
- Campbell Harry
- Campbell Susan
- Carba Delia B
- Carlson Chris
- Carlson Olga D
- Carty Cara
- Casas Juan P
- Caspersen Ida H
- Castano-Betancourt Martha
- Cauchi Stéphane
- Cauley Jane A
- Caulfield Mark
- Cavalieri Margherita
- Cazier Jean-Baptiste
- Center Jacqueline R
- Cesana Giancarlo
- Chakravarti Aravinda
- Chambers John
- Chandak Giriraj R
- Chang Hsing-Yi
- Chang Yen-Pei C
- Chanock Stephen J
- Charchar Fadi J
- Chasman Dan
- Chaturvedi Nish
- Chen Constance
- Chen Han
- Chen Ida
- Chen Jin
- Chen Ming-Huei
- Chen Wei
- Chen Yii-Der Ida
- Cheng Iona
- Cheng Sulin
- Chines Peter S
- Cho Yoon Shin
- Choi Murim
- Chouraki Vincent
- Christiansen Claus
- Chu Audrey Y
- Cimponeriu Dan
- Ciullo Marina
- Clark Graeme R
- Clarke Robert
- Claudi-Boehm Simone
- Coassin Stefan
- Cochran Barbara
- Cole Shelley
- Colhoun Helen
- Colhoun Helen M
- Collins Francis S
- Collins Rory
- Connell John M
- Cooper Cyrus
- Cooper Jackie A
- Cooper Matthew N
- Cooper Richard S
- Coresh Josef
- Cornelis Marilyn C
- Corre Tanguy
- Corsi Anna Maria
- Couper David
- Cousminer Diana L
- Coviello Andrea D
- Cox David
- Crawford Dana
- Crisponi Laura
- Croteau-Chonka Damien C
- Cucca Francesco
- Cummings Steven R
- Cupples Adrienne L
- Cupples L Adrienne
- Curhan Gary
- d'Adamo Pio
- Dahgam Santosh
- Dailiana Zoe
- Danesh John
- Danoy Patrick
- Dastani Zari
- Davies Gail
- Daw E Warwick
- Day Felix R
- Day Ian N M
- de Andrade Mariza
- de Boer Ian H
- de Boer Rudolf A
- de Faire Ulf
- de Geus Eco J C
- Deary Ian J
- Dedoussis George
- Dedoussis George V
- Dedoussis George V Z
- Deelen Joris
- Deelman Ewa
- Dehghan Abbas
- Delgado Graciela
- Deloukas Panagiotis
- Deloukas Panos
- Demerath Ellen W
- Demirkan Ayse
- Demirkan Ayşe
- Den Hertog Heleen M
- Denniff Matthew
- Dennison Elaine M
- Dermitzakis Emmanouil T
- Deshmukh Harshal
- Deshmukh Harshal A
- Devuyst Olivier
- di Meglio Paola
- Diemert Patrick
- Dimas Antigone S
- Dimitriou Maria
- Ding Jingzhong
- Do Ron
- Dominiczak Anna F
- Doney Alex
- Dong Yanbin
- Donnelly Louise A
- Doumatey Ayo
- Dreisbach Albert W
- Drong Alexander W
- Duggan David
- Dumitrescu Logan
- Duncan Bruce B
- Duncan Emma L
- Dupuis Josee
- Dupuis Josée
- Durbin Richard
- Durda Peter
- Döring Angela
- Dörr Marcus
- Eastell Richard
- Easton Douglas F
- Ebrahim Shah
- Econs Michael J
- Edkins Sarah
- Egan Josephine
- Ehret Georg
- Eiriksdottir Gudny
- Eisman John A
- Eklund Niina
- El Mokhtari NourEddine
- Elks Cathy E
- Ellinghaus David
- Elliott Paul
- Elosua Roberto
- Emilsson Valur
- Endlich Karlhans
- Epstein Stephen E
- Erbel Raimund
- Erdmann Jeanette
- Erdos Michael R
- Eriksson Joel
- Eriksson Johan
- Eriksson Niclas
- Eriksson Per
- Ernst Florian
- Esko Tonu
- Esko Tõnu
- Esko Tönu
- Estrada Karol
- Eury Elodie
- Evangelou Evangelos
- Evans Alun
- Evans David M
- Eyheramendy Susana
- Eyjolfsson Gudmundur Ingi
- Fagerholm Emma
- Falhammar Henrik
- Fall Tove
- Farrall Martin
- Fauser Bart C J M
- Fava Cristiano
- Feenstra Bjarke
- Fehrmann Rudolf
- Feitosa Mary
- Feranil Alan B
- Ferrannini Ele
- Ferrario Marco M
- Ferreira Teresa
- Ferreli Liana
- Ferrières Jean
- Ferrucci Luigi
- Fischer Krista
- Florez Jose C
- Folkersen Lasse
- Folsom Aaron R
- Fontanillas Pierre
- Ford Ian
- Fornage Myriam
- Foroud Tatiana
- Forouhi Nita G
- Forrester Terrence
- Forsblom Carol
- Foster Meredith C
- Fowke Jay
- Fowkes F Gerald R
- Fowkes Gerard R
- Fox Caroline S
- Fox Ervin R
- Franceschini Nora
- Franco Oscar H
- Franco-Cereceda Anders
- Franke Andre
- Franke Lude
- Franks Paul W
- Frants Rune
- Fraser Ross M
- Frayling Timothy M
- Freedman Barry I
- Freimer Nelson B
- Freitag Daniel F
- Friedrich Nele
- Froguel Philippe
- Frost Morten
- Fuchsberger Christian
- Galan Pilar
- Ganesh Santhi K
- Ganna Andrea
- Gansevoort Ron T
- Gao Xiaoyi
- Garcia Melissa
- Garcia-Giralt Natàlia
- Garnaas Maija
- Gasparini Paolo
- Gauguier Dominique
- Gaunt Tom R
- Gautvik Kaare M
- Geller Frank
- Gharavi Ali G
- Giedraitis Vilmantas
- Gieger Christian
- Gierman Hinco J
- Gigante Bruna
- Gill Geoffrey V
- Giroux Sylvie
- Giulianini Franco
- Glass Daniel
- Glazer Nicole
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- Glenn Kim
- Glorioso Nicola
- Go Alan S
- Go Min Jin
- Godson Catherine
- Goel Anuj
- Goessling Wolfram
- Golay Alain
- Goldstein Benjamin A
- Goltzman David
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- González-Macías Jesús
- Goodall Alison H
- Goodarzi Mark O
- Goodloe Robert
- Gordin Daniel
- Gordon Scott D
- Gorski Mathias
- Grabe Hans-Jörgen
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- Grewal Jagvir
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- Grobbee Diederick E
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- Imboden Medea
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- Ingle Catherine
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- Johansen Berit
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- Johansson Åsa
- Johnson Andrew
- Johnson Louise
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- Jousilahti Pekka
- Ju Sung Yun
- Jukema J Wouter
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- Juliusdottir Thorhildur
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- Jöckel Karl-Heinz
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- Keller Benjamin J
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- Kessler Thorsten
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- Kesäniemi Antero
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- Kwan Tony
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- Ladenvall Claes
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- Lyssenko Valeriya
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- MacCluer Jean
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- Maerz Winfried
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- Maestroni Silvia
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- Mahajan Anubha
- Malinowski Jennifer
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- Mani K Radha
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- Manolio Teri
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- Marette André
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- Marongiu Mara
- Marre Michel
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- Marullo Letizia
- Masciullo Corrado
- Masi Laura
- Mateo Leach Irene
- Matise Tara
- Mattace-Raso Francesco U S
- Matullo Giuseppe
- Maxwell Alexander P
- McArdle Patick F
- McArdle Patrick F
- McArdle Wendy L
- McCarthy Mark I
- McCloskey Eugene
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- McKenzie Colin A
- McKnight Amy J
- McKnight Amy Jayne
- McKnight Barbara
- McPherson Ruth
- Medina-Gomez Carolina
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- Medland Sarah E
- Meduri Eshwar
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- Meisinger Christa
- Meitinger Thomas
- Melander Olle
- Melbye Mads
- Mellström Dan
- Melzer David
- Mencej-Bedrac Simona
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- Menni Cristina
- Merger Sigrun
- Meschia James F
- Metspalu Andres
- Metzger Marie
- Meulenbelt Ingrid
- Mihai Ioana
- Mihailov Evelin
- Miki Tetsuro
- Milaneschi Yuri
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- Miljkovic Iva
- Mills Rebecca
- Min Josine L
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- Missmer Stacey A
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- Moayyeri Alireza
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- Mohlke Karen L
- Moilanen Leena
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- Montasser May E
- Montgomery Grant W
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- Mooijaart Simon P
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- Mora Samia
- Morken Mario A
- Morris Andrew D
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- Morris Richard W
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- Mosley Thomas H
- Mota Eugen
- Mota Maria
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- Munroe Patricia
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- Murray Sarah S
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- Mychaleckyj Josyf C
- Mägi Reedik
- Mäkinen Ville-Petteri
- Männistö Satu
- März Winfried
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- Yao Jie
- Yengo Loïc
- Yerges-Armstrong Laura M
- 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
Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition)
- Author
- A Ivana Scovassi
- A Murat Kaynar
- A Sue Menko
- Aaron DiAntonio
- Abdel Halim Harrath
- Abdelhaq Rami
- Abhinav Diwan
- Abhishek D Garg
- Abidi A
- Abraham Acevedo Arozena
- Addanki Pratap Kumar
- Adi Kimchi
- Aditya Murthy
- Adolph TE
- Adrian L Harris
- Adrienne M Gorman
- Afshin Samali
- Agnieszka Bagniewska-Zadworna
- Agnieszka Sirko
- Agustin Aranda
- Agustín Hernández
- Ahlberg J
- Ahmed Hamai
- Ai Yamamoto
- Aileen R Ariosa
- Aimee L Edinger
- Akihisa Abe
- Akiko Maeda
- Akio Kihara
- Akira Matsuura
- AL Kovacs
- Al Rawi S
- Alain Bruhat
- Alakananda Basu
- Alan Cheng
- Alastair M Buchan
- Albert Haas
- Albert R La Spada
- Alberto Anel
- Alberto Bartolomé
- Alberto Faggioni
- Alberto Jiménez
- Alberto M Martelli
- Aldrin V Gomes
- Alec C Kimmelman
- Aleksandra J Isakovic
- Alessandra Bolino
- Alessandra Stacchiotti
- Alessandro Fanzani
- Alessandro Fraldi
- Alessia Di Nardo
- Alessio Papini
- Alexander Greenhough
- Alexander J Whitworth
- Alexandra Giatromanolaki
- Alexandre Arcaro
- Alexandru Almasan
- Alfonso Schiavi
- Alfred J Meijer
- Alfredo Criollo
- Alibhoy AA
- Alice Carrier
- Alicia Meléndez
- Alicia Rosello
- Alicia Torriglia
- Alina Maloyan
- Alireza R Rezaie
- Alkesh Jani
- Allan B Caplan
- Allan Tsung
- Allen Kaasik
- Allen Taylor
- Alon Kahana
- Alvaro Glavic
- Amal O Amer
- Amanda S Bess
- Amaravadi RK
- Amine Belaid
- Amy A Kiger
- Amélie Bernard
- Ana Coto-Montes
- Ana Maria Cuervo
- Ana Serrano-Puebla
- Anand K Ganesan
- Anand Krishnan V Iyer
- Anastasia Susie Mihailidou
- Anders A Tveita
- Anders H Lund
- Anding AL
- Andras Perl
- Andrea A Gust
- Andrea Ballabio
- Andrea Boman
- Andrea Cossarizza
- Andrea Hamann
- Andrea Viale
- Andreas Buch Møller
- Andreas Kern
- Andreas L Serra
- Andreas Linkermann
- Andreas Mayer
- Andreas Meryk
- Andreas S Reichert
- Andreas Till
- Andrei I Ivanov
- Andrei S Chagin
- Andrej Udelnow
- Andreja Erman
- Andrew J Halayko
- Andrew P Lieberman
- Andrew R Tee
- Andrew Thorburn
- Andrey S Tsvetkov
- Andriy A Sibirny
- André du Toit
- Angel L Ortega
- Angela M Valverde
- Angelica M Merlot
- Angelika A Noegel
- Angelika Amon
- Angelo A Manfredi
- Angelo De Milito
- Angelo Poletti
- Anika Nagelkerke
- Anil K Sood
- Anita C Truttmann
- Anita Solhaug
- Anna Chiara Nascimbeni
- Anna Katharina Simon
- Anna Maria Giammarioli
- Anna Maria Marconi
- Anna Pensalfini
- Anna Rita Migliaccio
- Anna Skwarska
- Anna-Lena Ström
- Anna-Maria Joseph
- Anna-Mart Engelbrecht
- Anne Bertolotti
- Anne E Theron
- Anne Hamacher-Brady
- Anne K Kenworthy
- Anne Marie Strohecker
- Anne Simonsen
- Anne Spang
- Anne-Sophie Nicot
- Annie M Joubert
- Annie Sittler
- Anthony MJ Sanchez
- Anthony R White
- Antoinette Lemoine
- Antonella De Matteis
- Antonio Di Pietro
- Antonio Facchiano
- Antonio Giordano
- Antonio Miranda-Vizuete
- Antonio Zorzano
- Antonis S Zervos
- Anuj Kumar
- Anumantha G Kanthasamy
- Aparna Lakkaraju
- Araki S
- Areechun Sotthibundhu
- Areti Pantazopoulou
- Arianna L Kim
- Arianne L Theiss
- Arlette Darfeuille-Michaud
- Armando A Genazzani
- Arnaud Echard
- Arnaud Francois
- Arnaud Moris
- Arnim Pause
- Arsenio Fernández-López
- Arthur I Cederbaum
- Arthur Kaser
- Aseem Pandey
- Ashish Jain
- Ashok K Saluja
- Ashok Kumar
- Assaf Rudich
- Athanassios D Velentzas
- Atsuhiro Ichihara
- Atsuo Amano
- Atsushi Kuno
- Attila L Kovács
- Audrey H Poon
- Augustine MK Choi
- Aurelia Lugea
- Aurora Pujol
- Aurélie François
- Avinash Sonawane
- Avital Eisenberg-Lerner
- Avnika Ashok Ruparelia
- Axel H Schönthal
- Ayesha N Shajahan-Haq
- Ba-Bie Teng
- Babak Razani
- Baharia Mograbi
- Bakhos A Tannous
- Bal L Lokeshwar
- Balindiwe JN Sishi
- Barbara Del Bello
- Barbara Guerra
- Baris Bingol
- Barry Jutten
- Barry Yedvobnick
- Bart Staels
- Basil J Petrof
- Bassam Janji
- Beata G Vertessy
- Beata Pajak
- Beata Sikorska
- Beatrice YJT Yue
- Behzad Yeganeh
- Belaid A
- Ben Berkhout
- Benedetto Grimaldi
- Benedikt Westermann
- Benjamin Dehay
- Benjamin Loos
- Benjamin Pineda
- Benjamin R Underwood
- Benjamin T Kopp
- Benoit Barbeau
- Benoit Pasquier
- Benoît Derrien
- Berge A Minassian
- Berger B
- Bernadette Carroll
- Bernard M
- Bernd Schröder
- Bertha Brodin
- Bertrand H Rihn
- Bertrand Joseph
- Bertrand Kaeffer
- Bertrand Mollereau
- Besim Ogretmen
- Besteiro S
- Beth Levine
- Betty Yuen Kwan Law
- Bhardwaj V
- Biagosch CA
- Bianca E Schneider
- Biederbick A
- Bilal Piperdi
- Bilon Khambu
- Binfeng Lu
- Bing Yan
- Bingol B
- Biplab Dasgupta
- Björn Stork
- Blagovesta Popova
- Blake B Rasmussen
- Bo Liu
- Bo Lu
- Bo Wang
- Bo Yan
- Bolinches-Amoros A
- Bonnie Bartel
- Boris Turk
- Boris Zhivotovsky
- Botting KJ
- Bozena Gabryel
- Bradford G Hill
- Bradley L Baumgarner
- Brennand A
- Brent R Stockwell
- Brigit E Riley
- Bruce H Reed
- Bruno M Neves
- Bulent Ozpolat
- Byoung Kuk Jang
- Byung-Hoon Lee
- Bärbel Rohrer
- C-K James Shen
- Cai-Ping Tan
- Caihong Wang
- Calvin K Yip
- Cam Patterson
- Camilla Palumbo
- Camille Martinand-Mari
- Candece L Gladson
- Candelaria Gomez-Manzano
- Canhua Huang
- Cantino D
- Carine Michiels
- Carl G Maki
- Carl Ward
- Carlo Follo
- Carloni S
- Carlos B Gonzalez
- Carlos Gorbea
- Carlos Guillen
- Carlos Hernandez
- Carlos López-Otín
- Carlos S Subauste
- Carmela Fusco
- Carmen Garcia-Ruiz
- Carmen Ruiz-Roldan
- Carmen Veríssima Ferreira-Halder
- Carmine Settembre
- Carol Imbriano
- Carole Kretz-Remy
- Caroline Biagosch
- Caroline Mauvezin
- Carolyn B Coyne
- Carolyn M Sue
- Carsten Sachse
- Castillo K
- Castillo K
- Catherine Dargemont
- Catherine K Andreadi
- Cathleen R Carlin
- Cathy Tournier
- Caty Casas
- Cecilia Gotor
- Cecilia MP Rodrigues
- Celine Perier
- Cervia D
- Chad A Dickey
- Chan Ding
- Chang-Shen Lin
- Chanhee Kang
- Channing J Der
- Chao-Yu Miao
- Chao-Yung Wang
- Charbel E-H Moussa
- Charleen T Chu
- Charles Grose
- Charles L Edelstein
- Charles Swanton
- Che-Hsin Lee
- Chee-Yin Chai
- Chen Q
- Chen ZH
- Cheng B
- Cheng J
- Cheng Jin
- Chengshu Wang
- Chengtao Her
- Chengyu Liang
- Chenran Wang
- Cheol Hyeon Kim
- Cheryl Lyn Walker
- Chi Li
- Chih-Peng Chang
- Chih-Wen Shu
- Chihiro Sasakawa
- Chin Hsu
- Chin-Yuan Hsu
- Chinnaswamy Jagannath
- Chiou-Feng Lin
- Chiung-Chyi Shen
- Chong Liu
- Chris Albanese
- Chris JH Elliott
- Chris Jones
- Chris Williams
- Christelle Koechlin-Ramonatxo
- Christiaan Leeuwenburgh
- Christian Behl
- Christian Behrends
- Christian Frezza
- Christian Kuhn
- Christian Münz
- Christian Sell
- Christian Ungermann
- Christian Waeber
- Christina J Sigurdson
- Christine M Stellrecht
- Christoph Becker
- Christopher HK Cheng
- Christopher M Adams
- Christos E Zois
- Chuan-Ming Xie
- Chuangui Wang
- Chuanshan Xu
- Chuanyong Guo
- Chun Hei Antonio Cheung
- Chun-Feng Liu
- Chun-Jung Chen
- Chunhai Fan
- Chunjuan Song
- Chunlai Wu
- Chunsun Dai
- Chwen-Ming Shih
- Cinzia Fabrizi
- Cinzia Lanzi
- Ciro Isidoro
- Claire H Mitchell
- Clancey LF
- Clara I Rodríguez
- Clara L Oeste
- Clarissa von Haefen
- Claudia Bincoletto
- Claudia Cerella
- Claudia D Spies
- Claudia Giampietri
- Claudia Manzoni
- Claudia Nunes dos Santos
- Claudine Kraft
- Claudio Brancolini
- Claudio Cardinali
- Claudio Hetz
- Claudio Luparello
- Clay F Semenkovich
- Clemens Steegborn
- Clémence Richetta
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- Xu Dong Zhang
- Xu Liu
- Xu-Guang Guo
- Xu-jie Zhou
- Xue-Yuan Bai
- Xuejun Jiang
- Xuejun Jiang
- Xuejun Wang
- Xueqin Liu
- Xuesong Yang
- Ya Hua
- Yacine Graba
- Yan Burelle
- Yan G Zhao
- Yan Wang
- Yan Zhang
- Yang KC
- Yang Liu
- Yang Sun
- Yang Zhang
- Yangqing Xu
- Yanjin Zhang
- Yanjun Kou
- Yanming Wang
- Yannick Bailly
- Yaohua Wu
- Yasuhito Sakuraba
- Yasuko Rikihisa
- Yasuo Kitajima
- Yasuo Uchiyama
- Yasuo Yanagi
- Yasushi Kitaoka
- Yau-Hung Chen
- Ye Xu
- Ye Y
- Ye-Guang Chen
- Yee-Joo Tan
- Yee-Shin Lin
- Yeong-Min Yoo
- Yi Ma
- Yi Sun
- Yi Yang
- Yi-Hsin Tseng
- Yi-Ran Huang
- Yibin Feng
- Yide Mei
- Yin Chen
- Ying Jiang
- Ying Wang
- Ying Yang
- Ying Zhao
- Ying-Jan Wang
- Ying-Ray Lee
- Yingjie Sun
- Yingmei Zhang
- Yingying Lu
- Yingyu Chen
- Yipeng Wang
- Yizhen Deng
- Yohta Shimada
- Yokota S
- Yong Huang
- Yong J Lee
- Yong Lin
- Yong Ma
- Yong Tae Kwon
- Yong Xia
- Yong-Joon Chwae
- Yong-Keun Jung
- Yong-Sun Kim
- Yong-Yeon Cho
- Yongchao Zhao
- Yonggeun Hong
- Yonghyun Kim
- Yongjun Jiang
- Yongsheng Che
- Yongshun Chen
- Yoshiaki Kamada
- Yoshihiro Shidoji
- Yoshihisa Watanabe
- Yoshimori T
- Yoshinori Takahashi
- Yoshio Fujitani
- Yoshitaka Isaka
- Yoshitaka Nagai
- Yotaro Izumi
- You-Wen He
- Young H Lee
- Young Ho Koh
- Young Hyun Yoo
- Young J Oh
- Young-Seok Cho
- Yu Qiu
- Yu Tian Wang
- Yu Wang
- Yu Xue
- Yu-Chen Hu
- Yu-Jen Chen
- Yu-xia Zhao
- Yu-Xiong Su
- Yu-Ying He
- Yuchen Feng
- Yue-Qin Chen
- Yuen-Li Chung
- Yuguang Shi
- Yuhua Zhu
- Yuichiro J Suzuki
- Yuji Moriyasu
- Yuji Ogura
- Yujie Chen
- Yukitoshi Nagahara
- Yule Liu
- Yulin Liao
- Yumin Li
- Yun Chau Long
- Yun Dai
- Yunfei Huang
- Yunfei Wen
- Yunjiao Zhang
- Yuqing Wang
- Yuuki Fujiwara
- Yuyan Xiong
- Yuzuru Imai
- Zahra Zakeri
- Zdena Palková
- Zexian Liu
- Zhang H
- Zhang J
- Zhao X
- Zhaoliang Su
- Zhe Liu
- Zhen Chen
- Zhen Yan
- Zhendong Zhao
- Zheng Dong
- Zheng-Hong Qin
- Zhengping Yu
- Zhenlong Wu
- Zhenyi An
- Zhenyi Ma
- Zhenyu Yao
- Zhenyu Yue
- Zhi-Min Yuan
- Zhi-Nong Wang
- Zhi-Xiang Xu
- Zhifen Yang
- Zhihong Yang
- Zhiping Xie
- Zhiyuan Yao
- Zhizhuang J Zhao
- Zhong Chen
- Zhonglin Xie
- Zhuo-Wei Hu
- Ziheng Xu
- Ziwei Qu
- Zixu Mao
- Zong-Wan Mao
- Zsuzsanna Szatmari
- Zu-Hang Sheng
- Zufeng Ding
- Zully Pedrozo
- Zun-Ji Ke
- Zuzana Papackova
- Zuzana Storchova
- Zvenyslava Husak
- Zvonimir Marelja
- Zvulun Elazar
- Álvaro F Fernández
- Åsa B Gustafsson
- Publication venue
- Publication date
- 22/09/2015
- Field of study
In 2008 we published the first set of guidelines for standardizing research in autophagy. Since then, research on this topic has continued to accelerate, and many new scientists have entered the field. Our knowledge base and relevant new technologies have also been expanding. Accordingly, it is important to update these guidelines for monitoring autophagy in different organisms. Various reviews have described the range of assays that have been used for this purpose. Nevertheless, there continues to be confusion regarding acceptable methods to measure autophagy, especially in multicellular eukaryotes. For example, a key point that needs to be emphasized is that there is a difference between measurements that monitor the numbers or volume of autophagic elements (e.g., autophagosomes or autolysosomes) at any stage of the autophagic process versus those that measure fl ux through the autophagy pathway (i.e., the complete process including the amount and rate of cargo sequestered and degraded). In particular, a block in macroautophagy that results in autophagosome accumulation must be differentiated from stimuli that increase autophagic activity, defi ned as increased autophagy induction coupled with increased delivery to, and degradation within, lysosomes (inmost higher eukaryotes and some protists such as Dictyostelium ) or the vacuole (in plants and fungi). In other words, it is especially important that investigators new to the fi eld understand that the appearance of more autophagosomes does not necessarily equate with more autophagy. In fact, in many cases, autophagosomes accumulate because of a block in trafficking to lysosomes without a concomitant change in autophagosome biogenesis, whereas an increase in autolysosomes may reflect a reduction in degradative activity. It is worth emphasizing here that lysosomal digestion is a stage of autophagy and evaluating its competence is a crucial part of the evaluation of autophagic flux, or complete autophagy. Here, we present a set of guidelines for the selection and interpretation of methods for use by investigators who aim to examine macroautophagy and related processes, as well as for reviewers who need to provide realistic and reasonable critiques of papers that are focused on these processes. These guidelines are not meant to be a formulaic set of rules, because the appropriate assays depend in part on the question being asked and the system being used. In addition, we emphasize that no individual assay is guaranteed to be the most appropriate one in every situation, and we strongly recommend the use of multiple assays to monitor autophagy. Along these lines, because of the potential for pleiotropic effects due to blocking autophagy through genetic manipulation it is imperative to delete or knock down more than one autophagy-related gene. In addition, some individual Atg proteins, or groups of proteins, are involved in other cellular pathways so not all Atg proteins can be used as a specific marker for an autophagic process. In these guidelines, we consider these various methods of assessing autophagy and what information can, or cannot, be obtained from them. Finally, by discussing the merits and limits of particular autophagy assays, we hope to encourage technical innovation in the field
Performance enhancement of planar silicon solar cells through utilization of two luminescent down-shifting Eu-doped phosphor species
- Author
- Publication venue
- 'Elsevier BV'
- Publication date
- Field of study
Hemoglobin adducts as biomarkers of estrogen homeostasis: Elevation of estrogenquinones as a risk factor for developing breast cancer in Taiwanese Women
- Author
- Publication venue
- 'Elsevier BV'
- Publication date
- 03/08/2015
- Field of study
The aim of this study was to establish a methodology to analyze estrogen quinone-derived adducts, including 17β-estradiol-2,3-quinone (E2-2,3-Q) and 17β-estradiol-3,4-quinone (E2-3,4-Q), in human hemoglobin (Hb). The methodology was then used to measure the levels of these adducts in Hb derived from female breast cancer patients (n=143) as well as controls (n=147) in Taiwan. Our result confirmed that both E2-2,3-Q- and E2-3,4-Q-derived adducts, including E2-2,3-Q-4-S-Hb and E2-3,4-Q-2-S-Hb, were detected in all breast cancer patients with median levels at 434 (215-1472) and 913 (559-2384) (pmol/g), respectively. Levels of E2-2,3-Q-4-S-Hb correlated significantly with those of E2-3,4-Q-2-S-Hb (r=0.622-0.628, p<0.001). By contrast, median levels of these same estrogen quinone-derived adducts in healthy controls were 71.8 (35.7-292) and 139 (69.1-453) (pmol/g). This translated to ~6-fold increase in mean values of E2-2,3-Q-4-S-Hb and E2-3,4-Q-2-S-Hb in breast cancer patients compared to those in the controls (p<0.001). Our findings add further support to the theme that cumulative body burden of estrogen quinones is an important indicator of breast cancer risk. We hypothesize that combination of genetic events and environmental factors may modulate estrogen homeostasis and enhance the production of estrogen quinones which lead to subsequent generation of pro-mutagenic DNA lesions in breast cancer patients
Hemoglobin adducts as biomarkers of estrogen homeostasis:Elevation of estrogenquinones as a risk factor for developingbreast cancer in Taiwanese Women
- Author
- Publication venue
- Publication date
- 19/11/2014
- Field of study
The aim of this study was to establish a methodology to analyze estrogen quinone-derived adducts,including 17 -estradiol-2,3-quinone (E2-2,3-Q) and 17 -estradiol-3,4-quinone (E2-3,4-Q), in humanhemoglobin (Hb). The methodology was then used to measure the levels of these adducts in Hb derivedfrom female breast cancer patients (n = 143) as well as controls (n = 147) in Taiwan. Our result confirmedthat both E2-2,3-Q- and E2-3,4-Q-derived adducts, including E2-2,3-Q-4-S-Hb and E2-3,4-Q-2-S-Hb,were detected in all breast cancer patients with median levels at 434 (215–1472) and 913 (559–2384)(pmol/g), respectively. Levels of E2-2,3-Q-4-S-Hb correlated significantly with those of E2-3,4-Q-2-S-Hb(r = 0.622–0.628, p < 0.001). By contrast, median levels of these same estrogen quinone-derived adducts inhealthy controls were 71.8 (35.7–292) and 139 (69.1–453) (pmol/g). This translated to ∼6-fold increasein mean values of E2-2,3-Q-4-S-Hb and E2-3,4-Q-2-S-Hb in breast cancer patients compared to those inthe controls (p < 0.001). Our findings add further support to the theme that cumulative body burden of estrogen quinones is an important indicator of breast cancer risk. We hypothesize that combination ofgenetic events and environmental factors may modulate estrogen homeostasis and enhance the produc-tion of estrogen quinones which lead to subsequent generation of pro-mutagenic DNA lesions in breastcancer patients
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- Chandan Vishal S.
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- Craft Brian
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- Gerhauser Clarissa
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- Kahles Andre
- Kahraman Abdullah
- Kaiser Vera B.
- Kakavand Hojabr
- Kalimuthu Sangeetha
- Kang Koo Jeong
- Karaszi Katalin
- Karlan Beth
- Karlić Rosa
- Karsch Dennis
- Kasaian Katayoon
- Kassahn Karin S.
- Katai Hitoshi
- Kato Mamoru
- Katoh Hiroto
- Kawakami Yoshiiku
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- Kellis Manolis
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- Khoo Vincent
- Khuntikeo Narong
- Khurana Ekta
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- Kim Hark Kyun
- Kim Hyung-Lae
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- Kim Hyunghwan
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- Kim Youngwook
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- Kleinheinz Kortine
- Klimczak Leszek J.
- Knappskog Stian
- Kneba Michael
- Knoppers Bartha M.
- Koh Youngil
- Komorowski Jan
- Komura Daisuke
- Komura Mitsuhiro
- Kong Gu
- Kool Marcel
- Korbel Jan O.
- 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
- Kumar Yogesh
- Kundra Ritika
- Kübler Kirsten
- Küppers Ralf
- Lagergren Jesper
- Lai Phillip H.
- Laird Peter W.
- Lakhani Sunil R.
- Lalansingh Christopher M.
- Lalonde Emilie
- Lamaze Fabien C.
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- Lander Eric
- Landgraf Pablo
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- Larsson Erik
- Lathrop Mark
- Lau Loretta M. S.
- Lawerenz Chris
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- Lee Darlene
- Lee Donghoon
- Lee Eunjung Alice
- Lee Hee Jin
- Lee Jake June-Koo
- Lee Jeong-Yeon
- Lee Juhee
- Lee Ming Ta Michael
- Lee-Six Henry
- Lehmann Kjong-Van
- Lehrach Hans
- Lenze Dido
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- Leshchiner Ignaty
- Letourneau Louis
- Letunic Ivica
- Levine Douglas A.
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- Ley Tim
- Li Chang
- Li Constance H.
- Li Haiyan Irene
- Li Jun
- Li Lin
- Li Shantao
- Li Siliang
- Li Xiaobo
- Li Xiaotong
- Li Xinyue
- Li Yilong
- Liang Han
- Liang Sheng-Ben
- Lichter Peter
- Lin Pei
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- Xi Liu
- Xia Tian
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- Xiao Xiao
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- 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.
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- Niu Beifang
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- Ott German
- Ouellette B. F. Francis
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- O’Donnell Peter
- O’Donovan Maria
- O’Meara Sarah
- O’Neill Brian Patrick
- O’Neill J. Robert
- Paczkowska Marta
- Paiella Salvatore
- Pairojkul Chawalit
- Pajic Marina
- Pan-Hammarström Qiang
- Papaemmanuil Elli
- Papatheodorou Irene
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- Plass Christoph
- Polak Paz
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- Potapova Olga
- Prasad Aparna
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- Prinz Manuel
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- Provenzano Elena
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- Purdie Colin A.
- P’ng Christine
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- Rabionet Raquel
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- Radlwimmer Bernhard
- Radovic Petar
- Raeder Benjamin
- Raghavan K. Vijay
- Raine Keiran M.
- Ramakrishna Manasa
- Ramakrishnan Kamna
- Ramalingam Suresh
- Raphael Benjamin J.
- Rathmell W. Kimryn
- Rausch Tobias
- Reifenberger Guido
- Reimand Jüri
- Reis-Filho Jorge
- Reuter Victor
- Reyes-Salazar Iker
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- Reynolds Sheila M.
- Rheinbay Esther
- Riazalhosseini Yasser
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- Richter Julia
- Ringel Matthew
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- Rippe Karsten
- Roach Jeffrey
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- Roberts Nicola D.
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- Robertson A. Gordon
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- Rodriguez Javier Bartolomé
- Rodriguez-Martin Bernardo
- Rodríguez-González F. Germán
- Roehrl Michael H. A.
- Rohde Marius
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- Romieu Gilles
- Rooman Ilse
- Roques Tom
- Rosebrock Daniel
- Rosenberg Mara
- Rosenstiel Philip C.
- Rosenwald Andreas
- Rowe Edward W.
- Royo Romina
- Rozen Steven G.
- Rubanova Yulia
- Rubin Mark A.
- Rubio-Perez Carlota
- Rudneva Vasilisa A.
- Rusev Borislav C.
- Ruzzenente Andrea
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- Sadeghi Sara
- Sahinalp S. Cenk
- Saini Natalie
- Saito-Adachi Mihoko
- Saksena Gordon
- Salcedo Adriana
- Salgado Roberto
- Salichos Leonidas
- Sallari Richard
- Saller Charles
- Salvia Roberto
- Sam Michelle
- Samra Jaswinder S.
- Sanchez-Vega Francisco
- Sander Chris
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- Sarin Rajiv
- Sarrafi Iman
- Sasaki-Oku Aya
- Sauer Torill
- Sauter Guido
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- Scarlett Christopher J.
- Scarpa Aldo
- Scelo Ghislaine
- Schadendorf Dirk
- Schein Jacqueline E.
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- Schlesner Matthias
- Schlomm Thorsten
- Schmidt Heather K.
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- Schreiber Stefan
- Schultz Nikolaus
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- Schwarz Roland F.
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- Scully Ralph
- Seethala Raja
- Segre Ayellet V.
- Selander Iris
- Semple Colin A.
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- Serra Stefano
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- Shah Nimish C.
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- Shen Hui
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- Shih Juliann
- Shimizu Eigo
- Shimizu Kiyo
- Shin Seung Jun
- Shiraishi Yuichi
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- Shmulevich Ilya
- Shorser Solomon I.
- Short Charles
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- Shringarpure Suyash S.
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- Shuai Shimin
- Sidiropoulos Nikos
- Siebert Reiner
- Sieuwerts Anieta M.
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- Signoretti Sabina
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- Simbolo Michele
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- Sinnott-Armstrong Nasa
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- Smith Jaclyn
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- Sothi Sharmila
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- Soulette Cameron M.
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- Spillane Andrew J.
- Spiro Oliver
- Spring Jonathan
- Staaf Johan
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- Stefánsson Ólafur Andri
- Stegle Oliver
- Stein Lincoln D.
- Stenhouse Alasdair
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- Stratton Michael R.
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- Struck Adam J.
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- Stunnenberg Henk G.
- Su Hong
- Su Xiaoping
- Sun Ren X.
- Sungalee Stephanie
- Susak Hana
- Suzuki Akihiro
- Sweep Fred
- Szczepanowski Monika
- Sültmann Holger
- Tam Angela
- Tamborero David
- Tan Benita Kiat Tee
- Tan Donghui
- Tan Patrick
- Tanaka Hiroko
- Taniguchi Hirokazu
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- Tarabichi Maxime
- Tarnuzzer Roy
- Tarpey Patrick
- Taschuk Morgan L.
- Tatsuno Kenji
- Tavaré Simon
- Taylor Darrin F.
- Taylor-Weiner Amaro
- Teague Jon W.
- Teh Bin Tean
- Tembe Varsha
- Temes Javier
- Thai Kevin
- Thayer Sarah P.
- Thiessen Nina
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- Thompson Alastair M.
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- Thompson R. Houston
- Thorne Heather
- Thorne Leigh B.
- Thorogood Adrian
- Tiao Grace
- Tijanic Nebojsa
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- Tirabosco Roberto
- Tojo Marta
- Tommasi Stefania
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- Torrents David
- Tortora Giampaolo
- Tost Jörg
- Totoki Yasushi
- Townend David
- Traficante Nadia
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- Trotta Jean-Rémi
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- Tsunoda Tatsuhiko
- Tubio Jose M. C.
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- Urushidate Tomoko
- Ushiku Tetsuo
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- van Deurzen Carolien H. M.
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- Vicente David
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- Vincent-Salomon Anne
- Visakorpi Tapio
- Voet Douglas
- von Kalle Christof
- von Mering Christian
- Vyas Paresh
- Vázquez-García Ignacio
- Waddell Nick M.
- Waddell Nicola
- Wadelius Claes
- Wadi Lina
- Wagener Rabea
- Wala Jeremiah A.
- Wang Jian
- Wang Jiayin
- Wang Liang-Bo
- Wang Linghua
- Wang Qi
- Wang Wenyi
- Wang Yumeng
- Wang Zhining
- Waring Paul M.
- Warnatz Hans-Jörg
- Warrell Jonathan
- Warren Anne Y.
- Waszak Sebastian M.
- Wedge David C.
- Weerasinghe Amila
- Weichenhan Dieter
- Weinberger Paul
- Weinstein John N.
- Weischenfeldt Joachim
- Weisenberger Daniel J.
- Welch Ian
- Wendl Michael C.
- Werner Johannes
- Whalley Justin P.
- Wheeler David A.
- Whitaker Hayley C.
- Wigle Dennis
- Wilkerson Matthew D.
- Williams Ashley
- Wilmott James S.
- Wilson Gavin W.
- Wilson Julie M.
- Wilson Richard K.
- Winterhoff Boris
- Wintersinger Jeffrey A.
- Wiznerowicz Maciej
- Wolf Stephan
- Wong Bernice H.
- Wong Christopher K.
- Wong Tina
- Wong Winghing
- Woo Youngchoon
- Wood Scott
- Wouters Bradly G.
- Wright Adam J.
- Wright Derek W.
- Wright Mark H.
- Wu Chin-Lee
- Wu Dai-Ying
- Wu Guanming
- Wu Jianmin
- Wu Kui
- Wu Yang
- Wu Zhenggang
- Xi Liu
- Xia Tian
- Xiang Qian
- 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 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
- Asger Hobolth
- Ashley Williams
- Ashton A Connor
- Atul J Butte
- Aurélien Chateigner
- Austin J Hepperla
- Axel Aretz
- Aya Sasaki-Oku
- Ayellet V Segre
- B F Francis Ouellette
- Barbara Hutter
- Barbara Kremeyer
- Bartha M Knoppers
- Beifang Niu
- Benedikt Brors
- Benita Kiat Tee Tan
- Benjamin J Raphael
- Benjamin P Berman
- Benjamin Raeder
- Bernardo Rodriguez-Martin
- Bernhard Radlwimmer
- Bernice H Wong
- Beth Karlan
- Bin Tean Teh
- Bin Zhu
- Birgit Burkhardt
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- Vincent Khoo
- Vincenzo Corbo
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- Wan Choi
- Wanding Zhou
- Wei Jiao
- Wei Jiao
- Wenyi Wang
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- William C Faquin
- William C Faquin
- William Friedman
- William Howat
- William Meyerson
- Willie Yu
- Winghing Wong
- Wojciech Bazant
- Wolfgang Huber
- Wolfram Klapper
- Xavier Estivill
- Xavier Pivot
- Xiao Xiao
- Xiaobo Li
- Xiaoping Su
- Xiaotong Li
- Xiaotong Yao
- Xing Hua
- Xingmin Liu
- Xinyue Li
- Xiuqing Zhang
- Xiuqing Zheng
- Xose S Puente
- Xuan Le
- Xuanping Zhang
- Xuemei Luo
- Xueqing Zou
- Yan Shi
- Yan Zhang
- Yang Wu
- Yang Yang
- Yann Joly
- Yanxun Xu
- Yao He
- Yasin Senbabaoglu
- Yassen Assenov
- Yasser Riazalhosseini
- Yasuhito Arai
- Yasushi Rino
- Yasushi Totoki
- Yeng Ang
- Yi Huang
- Yiling Lu
- Yilong Li
- Yingyan Yu
- Yiwen Chen
- Yogesh Kumar
- Yoke-Eng Chiew
- Yong Hou
- Yong Zhou
- Yong-Jie Lu
- Yongzhan Nie
- Yosef E Maruvka
- Yoshiiku Kawakami
- Young Seok Ju
- Youngchoon Woo
- Youngil Koh
- Youngwook Kim
- Yousif Fouad
- Youyong Lu
- Yu Fan
- Yu-Jia Shiah
- Yuan Ji
- Yuan Yuan
- Yuichi Shiraishi
- Yulia Newton
- Yulia Rubanova
- Yumeng Wang
- Yupeng Cun
- Yussanne Ma
- Zachary Heins
- Zechen Chong
- Zemin Zhang
- Zhaohong Chen
- Zhenggang Wu
- Zhining Wang
- Zhongming Zhao
- Ziao Lin
- Zsofia Kote-Jarai
- Ólafur Andri Stefánsson
- Øystein Garred
- Publication venue
- Publication date
- 01/01/2020
- Field of study
Sex differences have been observed in multiple facets of cancer epidemiology, treatment and biology, and in most cancers outside the sex organs. Efforts to link these clinical differences to specific molecular features have focused on somatic mutations within the coding regions of the genome. Here we report a pan-cancer analysis of sex differences in whole genomes of 1983 tumours of 28 subtypes as part of the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium. We both confirm the results of exome studies, and also uncover previously undescribed sex differences. These include sex-biases in coding and non-coding cancer drivers, mutation prevalence and strikingly, in mutational signatures related to underlying mutational processes. These results underline the pervasiveness of molecular sex differences and strengthen the call for increased consideration of sex in molecular cancer research.Sex differences have been observed in multiple facets of cancer epidemiology, treatment and biology, and in most cancers outside the sex organs. Efforts to link these clinical differences to specific molecular features have focused on somatic mutations within the coding regions of the genome. Here we report a pan-cancer analysis of sex differences in whole genomes of 1983 tumours of 28 subtypes as part of the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium. We both confirm the results of exome studies, and also uncover previously undescribed sex differences. These include sex-biases in coding and non-coding cancer drivers, mutation prevalence and strikingly, in mutational signatures related to underlying mutational processes. These results underline the pervasiveness of molecular sex differences and strengthen the call for increased consideration of sex in molecular cancer research.Peer reviewe
Retrospective evaluation of whole exome and genome mutation calls in 746 cancer samples
- Author
- A Gordon Robertson
- Abdullah Kahraman
- Abel Gonzalez-Perez
- Adam A Margolin
- Adam Abeshouse
- Adam Grundhoff
- Adam J Struck
- Adam J Struck
- Adam J Wright
- Adam Lambert
- Adam P Butler
- Adam P Butler
- Adel El-Naggar
- Adnan M Nagrial
- Adrian Ally
- Adrian Baez-Ortega
- Adrian Thorogood
- Adriana Salcedo
- Adrienne M Flanagan
- Ake Borg
- Akihiro Fujimoto
- Akihiro Suzuki
- Akinyemi I Ojesina
- Alain Viari
- Alan J Robertson
- Alan P Hoyle
- Alan Thompson
- Alasdair Stenhouse
- Alastair M Thompson
- Aldo Scarpa
- Alessandro Pastore
- Alex Buchanan
- Alex Buchanan
- Alexander Claviez
- Alexander J Lazar
- Alexander Martinez-Fundichely
- Alfonso Muñoz
- Alfonso Valencia
- Aliaksei Z Holik
- Alice Meng
- Alicia L Bruzos
- Allison Creason
- Allison P Heath
- Alvin Wei Tian Ng
- Alvis Brazma
- Amaro Taylor-Weiner
- Amber L Johns
- Amie Radenbaugh
- Amit G Deshwar
- Ana Dueso-Barroso
- Ana Mijalkovic Mijalkovic-Lazic
- Ana Milovanovic
- Ana Milovanovic
- Andre Kahles
- Andrea Haake
- Andrea Holbrook
- Andrea L Richardson
- Andrea Mafficini
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- Andreas Behren
- Andreas Rosenwald
- Andreia V Pinho
- Andrew Berchuck
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- Andrew J Dunford
- Andrew J Mungall
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- Andrew Menzies
- Andrew P Barbour
- Andrew Tutt
- Andrew V Biankin
- Andrey Korshunov
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- Angela Chou
- Angela N Brooks
- Angela Tam
- Angelica Ochoa
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- 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
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- Aquila Fatima
- Arcadi Navarro
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- Arnoud Boot
- Asger Hobolth
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- Benjamin J Raphael
- Benjamin P Berman
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- Bernardo Rodriguez-Martin
- Bernhard Radlwimmer
- Bernice H Wong
- Beth Karlan
- Bin Tean Teh
- Bin Zhu
- Birgit Burkhardt
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- Bogdan Czerniak
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- Borislav C Rusev
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- Brian Patrick O'Neill
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- Calvin Wing Yiu Chan
- Cameron M Soulette
- Carl Herrmann
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- 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
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- Chang Li
- Charles David Imbusch
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- 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
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- Christian von Mering
- Christiane Buchholz
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- Christina K Yung
- Christina Yau
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- Christine Desmedt
- Christine P'ng
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- Christoph Borst
- Christoph Plass
- Christopher A Miller
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- 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
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- Clare Verrill
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- Claudiu Farcas
- Clemency Jolly
- Colin A Purdie
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- Constance H Li
- Corbin D Jones
- Craig Shriver
- Cristina López
- Cyriac Kandoth
- Cyril Fisher
- D Neil Hayes
- Dai-Ying Wu
- Daiming Fan
- Daisuke Komura
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- Daniel Baumhoer
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- Daniel J Turner
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- Daniel M Berney
- Daniel Rosebrock
- Daniel S Brewer
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- Danielle Pasternack
- Darell Bigner
- Dariush Etemadmoghadam
- Darlene Lee
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- Dave Larson
- David A Wheeler
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- 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
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- 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
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- Eric Z Ma
- Eric Z Ma
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- Erik Mayer
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- 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
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- Giuseppe Malleo
- Gloria M Petersen
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- Gordon Saksena
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- Grace Tiao
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- Guanming Wu
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- Haiyan Irene Li
- Han Liang
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- Henrik Hornshøj
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- Hideki Ohdan
- Hidenori Ojima
- Hidewaki Nakagawa
- Hikmat Al-Ahmadie
- Hilda A Pickett
- Hirofumi Rokutan
- Hirokazu Taniguchi
- Hiroki Yamaue
- Hiroko Tanaka
- Hiromi Nakamura
- Hiroshi Aikata
- Hiroto Katoh
- Hiroyuki Aburatani
- Hitoshi Katai
- Hitoshi Nakagama
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- Holmfridur Hilmarsdottir
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- Hong Xue
- Hong Xue
- Hongtu Zhu
- Hongwei Zhang
- Hongxin Zhang
- Hsiao-Wei Chen
- Huanming Yang
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- Hui Shen
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- Hyung-Yong Kim
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- Ian Welch
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- Ignaty Leshchiner
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- Ivo Buchhalter
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- Ivo G Gut
- Ivon Harliwong
- Izar Villasante
- Iñigo Martincorena
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- J Robert O'Neill
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- Jared T Simpson
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- Jaswinder S Samra
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- Kai Ye
- Kaixian Yu
- Kami Chiotti
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- Winghing Wong
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- 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
- 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