16 research outputs found
Computational Discovery of Structured Non-coding RNA Motifs in Bacteria
- Author
- Publication venue
- EliScholar – A Digital Platform for Scholarly Publishing at Yale
- Publication date
- 01/04/2021
- Field of study
This dissertation describes a range of computational efforts to discover novel structured non-coding RNA (ncRNA) motifs in bacteria and generate hypotheses regarding their potential functions. This includes an introductory description of key advances in comparative genomics and RNA structure prediction as well as some of the most commonly found ncRNA candidates. Beyond that, I describe efforts for the comprehensive discovery of ncRNA candidates in 25 bacterial genomes and a catalog of the various functions hypothesized for these new motifs. Finally, I describe the Discovery of Intergenic Motifs PipeLine (DIMPL) which is a new computational toolset that harnesses the power of support vector machine (SVM) classifiers to identify bacterial intergenic regions most likely to contain novel structured ncRNA and automates the bulk of the subsequent analysis steps required to predict function. In totality, the body of work will enable the large scale discovery of novel structured ncRNA motifs at a far greater pace than possible before
Robust estimation of bacterial cell count from optical density
- Author
- Aarnio Tiu
- Aaron Leow Chung Yong
- Abbas Anser
- Abduraimova Aiganym
- Abraham Doris
- Acar Beliz Leyla
- Acosta Joaquin
- Adler Nina
- Adulyanukosol Natthawut
- Agena Ejouan
- Agena Ethan
- Aggarwal Priya
- Aguirre Adriana Lizeth Rubio
- Ahlgren Christopher
- Ahuja Janvi
- Aizik Dror
- Akbary Mina
- Akinfenwa Akinwumi
- Akingbesote Ngozi D.
- Akova Umut
- Aldo Ferdinan
- Alexopoulos Ioannis
- Allen Lucy
- Alonso Alejandro
- Altarawneh Dina
- Alvarado Andres Benjamin Sanchez
- Ambre Sanika
- Ameziane Annissa
- Amheine Khadija
- Amin Ihya Fakhrurizal
- Amir Sayeda Sakina
- Amstel Chiel van
- An Yongyan
- Anand Nithishwer Mouroug
- Ananthakrishnan Sathvik
- Anderson Karl
- Angel Sagi
- Annem Vidhya
- Anson Chung Tsun Ho
- Anwar Mariam
- Appel Alana
- Araya Lucas
- Armstrong Alexander
- Arora Neha
- Arora Vasu
- Arruda Beck
- Ashwin F Amal Jude
- Astapenka Artur
- Astles Ben
- Astorino Gabe
- Aubry Celine
- Avileli Rebecca
- Azad Mahnaz Sabeta
- Babar Rehmat
- Babu Priyanka
- Badalli Turan
- Badash Lior
- Baichman-Kass Amichai
- Baldwin Geoff S.
- Baltensperger Oliver Andreas
- Bao Guanke
- Bao Minyue
- Baronaite Ugne
- Barrat Leon Michael
- Barrington Seth
- Barshap Alon
- Bartzoka Natalia
- Basu Anubhav
- Basulto Cynthia
- Bath Scott
- Battina Rohith
- Bauersachs Daniel
- Beal Jacob
- Beale Renee
- Beard Eleanor
- Beck Selina
- Becker Evan
- Benavides Samantha Ayde Pena
- Bennis Nicole
- Bete Anna
- Bhatt Darshak
- Bhowmick Shilpa
- Bian Weixin
- Bijman Eline Yafele
- Bindt Felix
- Blas Karla Soto
- Bo Tang
- Boada Yadira
- Boer Meine
- Bohner Ariel
- Borovko Irina
- Bott Amie
- Bouwmeester Susan
- Bowman Kyle
- Boxem Mike
- Boxuan Cheng
- Boyce Kira
- Boyer Jess
- Brasas Valentas
- Brewer Mathew
- Briand William
- Brink Matilda
- Browne Emily
- Buckley-Taylor Russell
- Budhan Stephanie
- Buller Lisa
- Burckhardt Nele
- Burgland Zachary
- Burns Frank
- Burridge Matt
- Burud Hanna Nedreberg
- Buson Felipe Xavier
- Butterfield Tom
- Byagathvalli Gaurav
- Byatt Gabriel
- Byun Sumin
- Caballero Amalia
- Cai Fu
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- Camacho Yazmin
- Camille Monteil
- Campbell Robert
- Cao Qinhao
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- Castillo Sandra
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- Chau Anthony
- Chavez Benjamin
- Chavez Francisco
- Chehade Ibrahim
- Chen Carmen
- Chen Chih-Chiang
- Chen Ching-Wei
- Chen Janice
- Chen Junhong
- Chen Junyang
- Chen Junyu
- Chen Pei-Hong
- Chen Ryan
- Chen Weixuan
- Chen Yan
- Chen Yi-Cian
- Chen Yifei
- Chen Zhuoyang
- Cheng Cheng
- Cheng Haolun
- Cheng Hsuan
- Cheng Yu-Hong
- Cheng Yu-Hsuan
- Chenxi Liang
- Cherupalla Arjun
- Chi Jordi
- Chi Shumei
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- Chiang Woody
- Ching Lai Tsz
- Ching Lam Kai
- Ching Law Hiu
- Ching Luk Hau
- Chinnathambi Sathivel
- Cho Sungwoo
- Choi Lee Sze
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- Chou Ryan
- Chou Ryan
- Chu Wai Yan
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- Dai Leijie
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- Daniels Lea
- Das Neves Laura
- Das Diptatanu
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- Deb Shalini S.
- Deepak Kumar S.
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- Delhomme Jean
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- Deng Rui
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- Despres Philippe C.
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- Do Stephanie
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- Dominguez Viana Isabel Perez
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- Dong Shan
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- Dusseaux Theodore A.
- Dvorkin Steve
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- Gokul [NO FIRST NAME IN SCOPUS]
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- Shuan Yun
- Shulun [NO FIRST NAME IN SCOPUS]
- Shuyu Shi
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- Xu Xin
- Xu Yinsong
- Xuan Chen Zi
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- Xue Han
- Xun Shu
- Yadav Ravineet
- Yadav Yash
- Yadi Liu
- Yan Calvin
- Yan Cathy
- Yan Han
- Yan Hongfa
- Yan Qingyan
- Yan Tsui Shing
- Yan Yeung Wing
- Yan Yining
- Yang Chao
- Yang Chenghao
- Yang Chuyi
- Yang Fan
- Yang Fuqiang
- Yang Hanyeol
- Yang Jake
- Yang Jianzhe
- Yang Jindian
- Yang Jinshu
- Yang Jun
- Yang Leyi
- Yang Ruofan
- Yang Shaobo
- Yang Shuting
- Yang Xilin
- Yang Yuchen
- Yang Zhuoyi
- Yang Zisang
- Yang Zon En
- Yao Andrew
- Yarbrough Hayden
- Yaxi Zhang
- Ye Yusheng
- Yee Chong Yuk
- Yeh Chan-yu
- Yehouessi Tamara
- Yeliseyeva Hanna
- Yesley Phillip
- Yeung Wong Tsz
- Yifan Li
- Yihang Qiu
- Yiming Quan
- Yin Jiacheng
- Yin Lee Ka
- Yin Xianqi
- Yong Nur Liyana Binte Ayub Ow
- Yong Zhangxiang
- Yongjie Lin
- Yoo Hojun
- Yoon Soohyun
- You Jaewon
- Young Cam
- Yu Haimeng
- Yu Jiacheng
- Yu Kai-Chiang
- Yu Liuhong
- Yu Tam Chi
- Yu Wenfei
- Yu Yuen Wai
- Yuan Hetian
- Yuan Long
- Yuan Xing
- Yuan Zhe
- Yuanxu Jiang
- Yucheng Chen
- Yue Qing
- Yueyi Li
- Yuhan Cheng
- Yujie Peng
- Yun Yejie
- Yung Jay
- Yutong Pan
- Zadeh Daniel
- Zamora Alejandro Robles
- Zanoni Paul
- Zanotti Violetta
- Zeng Chenxu
- Zeng Yuanhong
- Zepeng Xu
- Zerva Anastasia
- Zhan Yang
- Zhang Alice
- Zhang Bonan
- Zhang Jianxiang
- Zhang Jige
- Zhang Jinhan
- Zhang Kaida
- Zhang Kecheng
- Zhang Qian
- Zhang Shuyan
- Zhang Tianyi
- Zhang Wanli
- Zhang Xianyin
- Zhang Xinyu
- Zhang Yihao
- Zhang Yuanzhen
- Zhang Yunqian
- Zhang Zixuan
- Zhao Nannan
- Zhao Peng
- Zhao Tianyan
- Zhao Wenxue
- Zhao Yihang
- Zhaoting Li
- Zhecheng Huang
- Zheng Daniel
- Zheng Jiyang
- Zhiwei Song
- Zhong Yanling
- Zhou Hanmi
- Zhou Jiajie
- Zhou Jianan
- Zhou Rui
- Zhou Shuyao
- Zhou Xuanhao
- Zhou Yanjun
- Zhou Yi
- Zhou Yinchi
- Zhou Yineng
- Zhou Yuezhang
- Zhou Yuxin
- Zhou Zhiyu
- Zhu Chushu
- Zhu Ke
- Zhu Xueqian
- Zi Lihan
- Zilinskaite Nemira
- Zimmermann Andreas
- Zimmermann Jennifer
- Zirong Zeng
- Ziwei Zhou
- Ziyi Zhao
- Zorrilla Francisco
- Zou Jiahua
- Zukauskaite Kristina
- Zulueta Patricia
- Zvirblyte Justina
- Publication venue
- Publication date
- 01/01/2020
- Field of study
Optical density (OD) is widely used to estimate the density of cells in liquid culture, but cannot be compared between instruments without a standardized calibration protocol and is challenging to relate to actual cell count. We address this with an interlaboratory study comparing three simple, low-cost, and highly accessible OD calibration protocols across 244 laboratories, applied to eight strains of constitutive GFP-expressing E. coli. Based on our results, we recommend calibrating OD to estimated cell count using serial dilution of silica microspheres, which produces highly precise calibration (95.5% of residuals <1.2-fold), is easily assessed for quality control, also assesses instrument effective linear range, and can be combined with fluorescence calibration to obtain units of Molecules of Equivalent Fluorescein (MEFL) per cell, allowing direct comparison and data fusion with flow cytometry measurements: in our study, fluorescence per cell measurements showed only a 1.07-fold mean difference between plate reader and flow cytometry data
Small molecule blockade of transcriptional coactivation of the hypoxia-inducible factor pathway
- Author
- Alexander W Wood
- Andrew L Kung
- Annelisa Vieira
- Arany
- Balasubramanyam
- Beqing Wang
- Berg
- Bhattacharya
- Bhattacharya
- Brewer
- Brown
- Carmeliet
- Carrero
- Cochran
- Damert
- Darnell
- David M Livingston
- Dennis S France
- Elizabeth A Tanner
- Ema
- Foster
- Frank Petersen
- Freedman
- Freedman
- Fujimoto
- Fukumura
- Gu
- Hans-Ulrich Naegeli
- Harris
- Hockel
- Hopfl
- Huang
- Huang
- Hur
- Isaacs
- Ivan
- Jaakkola
- Jamin Wang
- Jennifer Lee
- Kallio
- Kenneth W Bair
- Klaus Memmert
- Kondo
- Kung
- Lando
- Lau
- Lepourcelet
- Mabjeesh
- Mabjeesh
- Masson
- McInnes
- Michael J Eck
- Mie Lee
- Morin
- Pugh
- Rapisarda
- Ray
- Ryan
- Ryan
- Sekita
- Semenza
- Sonya D Zabludoff
- Sowter
- Steven J Freedman
- Susan Cornell-Kennon
- Vaupel
- von Pawel
- Yamakawa
- Zhang
- Zhong
- Publication venue
- 'Elsevier BV'
- Publication date
- Field of study
Recommended from our members
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- Aaltonen Lauri A.
- Abascal Federico
- Abeshouse Adam
- Aburatani Hiroyuki
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- Ammerpohl Ole
- Anderson Matthew J.
- Ang Yeng
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- Aure Miriam R.
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- Bader Gary D.
- Baez-Ortega Adrian
- Bailey Matthew H.
- Bailey Peter J.
- Balasundaram Miruna
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- Barbi Stefano
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- Barenboim Jonathan
- Barnholtz-Sloan Jill
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- Barrera Elisabet
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- Bassi Claudio
- Bathe Oliver F.
- Baumhoer Daniel
- Bavi Prashant
- Baylin Stephen B.
- Bazant Wojciech
- Beardsmore Duncan
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- Behjati Sam
- Behren Andreas
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- Benz Christopher
- Berchuck Andrew
- Bergmann Anke K.
- Bergstrom Erik N.
- Berman Benjamin P.
- Berney Daniel M.
- Bernhart Stephan H.
- Beroukhim Rameen
- Berrios Mario
- Bersani Samantha
- Bertl Johanna
- Betancourt Miguel
- Bhandari Vinayak
- Bhosle Shriram G.
- Biankin Andrew V.
- Bieg Matthias
- Bigner Darell
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- Birney Ewan
- Birrer Michael
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- Bjerkehagen Bodil
- Bodenheimer Tom
- Boice Lori
- Bonizzato Giada
- Boot Arnoud
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- Borg Ake
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- Bosenberg Marcus
- Bosio Mattia
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- Bova G. Steven
- Bowen David T.
- Bowlby Reanne
- Bowtell David D. L.
- Boyault Sandrine
- Boyce Rich
- Boyd Jeffrey
- Brazma Alvis
- Brennan Paul
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- Brock Malcolm
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- Buchanan Alex
- Buchhalter Ivo
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- Cafferkey Andy
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- Camacho Niedzica
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- Campo Elias
- Cantù Cinzia
- Cao Shaolong
- Carey Thomas E.
- Carlevaro-Fita Joana
- Carlsen Rebecca
- Cataldo Ivana
- Cazzola Mario
- Cebon Jonathan
- Cerfolio Robert
- Chadwick Dianne E.
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- Chalmers Don
- Chan Calvin Wing Yiu
- Chan Kin
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- Chien Jeremy
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- Cho Juok
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- Choi Jung Kyoon
- Choi Wan
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- 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 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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- Author
- Aaltonen Lauri A.
- Abascal Federico
- Abeshouse Adam
- Aburatani Hiroyuki
- Adams David J.
- Agrawal Nishant
- Ahn Keun Soo
- Ahn Sung-Min
- Aikata Hiroshi
- Akbani Rehan
- Akdemir Kadir C.
- Al-Ahmadie Hikmat
- Al-Sedairy Sultan T.
- Al-Shahrour Fatima
- Alawi Malik
- Albert Monique
- Aldape Kenneth
- Alexandrov Ludmil B.
- Ally Adrian
- Alsop Kathryn
- Alvarez Eva G.
- Amary Fernanda
- Amin Samirkumar B.
- Aminou Brice
- Ammerpohl Ole
- Anderson Matthew J.
- Ang Yeng
- Antonello Davide
- Anur Pavana
- Aparicio Samuel
- Appelbaum Elizabeth L.
- Arai Yasuhito
- Aretz Axel
- Arihiro Koji
- Ariizumi Shun-ichi
- Armenia Joshua
- Arnau Gisela Mir
- Arnould Laurent
- Asa Sylvia
- Assenov Yassen
- Atwal Gurnit
- Aukema Sietse
- Auman J. Todd
- Aure Miriam R.
- Awadalla Philip
- Aymerich Marta
- Bader Gary D.
- Baez-Ortega Adrian
- Bailey Matthew H.
- Bailey Peter J.
- Balasundaram Miruna
- Balu Saianand
- Bandopadhayay Pratiti
- Banks Rosamonde E.
- Barbi Stefano
- Barbour Andrew P.
- Barenboim Jonathan
- Barnholtz-Sloan Jill
- Barr Hugh
- Barrera Elisabet
- Bartlett John
- Bartolome Javier
- Bassi Claudio
- Bathe Oliver F.
- Baumhoer Daniel
- Bavi Prashant
- Baylin Stephen B.
- Bazant Wojciech
- Beardsmore Duncan
- Beck Timothy A.
- Behjati Sam
- Behren Andreas
- Bell Cindy
- Beltran Sergi
- Benz Christopher
- Berchuck Andrew
- Bergmann Anke K.
- Bergstrom Erik N.
- Berman Benjamin P.
- Berney Daniel M.
- Bernhart Stephan H.
- Beroukhim Rameen
- Berrios Mario
- Bersani Samantha
- Bertl Johanna
- Betancourt Miguel
- Bhandari Vinayak
- Bhosle Shriram G.
- Biankin Andrew V.
- Bieg Matthias
- Bigner Darell
- Bin Zhu
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- Boice Lori
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- Boot Arnoud
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- Bosenberg Marcus
- Bosio Mattia
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- Bourque Guillaume
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- Boyd Jeffrey
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- Brennan Paul
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- Brock Jane E.
- Brock Malcolm
- Broeks Annegien
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- Brunak Søren
- Bruxner Timothy J. C.
- Bruzos Alicia L.
- Buchanan Alex
- Buchhalter Ivo
- Buchholz Christiane
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- Butler Adam P.
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- Byrne Niall J.
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- Campo Elias
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- Cao Shaolong
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- Chalmers Don
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- Chan Kin
- Chan-Seng-Yue Michelle
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- Chen Hsiao-Wei
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- Chien Jeremy
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- Cho Juok
- Cho Sunghoon
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- Choi Wan
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- Christie Elizabeth L.
- Chuah Eric
- Cibulskis Carrie
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- Cingarlini Sara
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- Cooper Colin S.
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- Corbo Vincenzo
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- Cowin Prue A.
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- Craft David
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- Cutcutache Ioana
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- Davies Helen
- Davis Ian J.
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- Dawson Kevin J.
- De Bono Johann S.
- De La Vega Francisco M.
- De Paoli-Iseppi Ricardo
- deFazio Anna
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- Dei Tos Angelo P.
- Delaneau Olivier
- Demchok John A.
- Demeulemeester Jonas
- Demidov German M.
- Demircioğlu Deniz
- Dennis Nening M.
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- Dirix Luc
- Doddapaneni HarshaVardhan
- Dong Guanlan
- Donmez Nilgun
- Dow Michelle T.
- Drapkin Ronny
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- 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
- Bishoy M Faltas
- Bishoy M Faltas
- Bodil Bjerkehagen
- Bogdan Czerniak
- Boris Winterhoff
- Borislav C Rusev
- Boutros
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- Brandi N Davis-Dusenbery
- Brian Craft
- Brian D O'Connor
- Brian Patrick O'Neill
- Brice Aminou
- Calvin Wing Yiu Chan
- Cameron M Soulette
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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
- Carrie Cibulskis
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- Catherine A Shang
- Catherine D Moser
- Catherine J Kennedy
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- Chang Li
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- Chen Hong
- Chen Ye
- Cheng-Zhong Zhang
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- Cinzia Cantù
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- W Kimryn Rathmell
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- Wei Jiao
- Wei Jiao
- Wenyi Wang
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- Willie Yu
- Winghing Wong
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- Wolfgang Huber
- Wolfram Klapper
- Xavier Estivill
- Xavier Pivot
- Xiao Xiao
- Xiaobo Li
- Xiaoping Su
- Xiaotong Li
- Xiaotong Yao
- Xing Hua
- Xingmin Liu
- Xinyue Li
- Xiuqing Zhang
- Xiuqing Zheng
- Xose S Puente
- Xuan Le
- Xuanping Zhang
- Xuemei Luo
- Xueqing Zou
- Yan Shi
- Yan Zhang
- Yang Wu
- Yang Yang
- Yann Joly
- Yanxun Xu
- Yao He
- Yasin Senbabaoglu
- Yassen Assenov
- Yasser Riazalhosseini
- Yasuhito Arai
- Yasushi Rino
- Yasushi Totoki
- Yeng Ang
- Yi Huang
- Yiling Lu
- Yilong Li
- Yingyan Yu
- Yiwen Chen
- Yogesh Kumar
- Yoke-Eng Chiew
- Yong Hou
- Yong Zhou
- Yong-Jie Lu
- Yongzhan Nie
- Yosef E Maruvka
- Yoshiiku Kawakami
- Young Seok Ju
- Youngchoon Woo
- Youngil Koh
- Youngwook Kim
- Yousif Fouad
- Youyong Lu
- Yu Fan
- Yu-Jia Shiah
- Yuan Ji
- Yuan Yuan
- Yuichi Shiraishi
- Yulia Newton
- Yulia Rubanova
- Yumeng Wang
- Yupeng Cun
- Yussanne Ma
- Zachary Heins
- Zechen Chong
- Zemin Zhang
- Zhaohong Chen
- Zhenggang Wu
- Zhining Wang
- Zhongming Zhao
- Ziao Lin
- Zsofia Kote-Jarai
- Ólafur Andri Stefánsson
- Øystein Garred
- Publication venue
- Publication date
- 01/01/2020
- Field of study
Sex differences have been observed in multiple facets of cancer epidemiology, treatment and biology, and in most cancers outside the sex organs. Efforts to link these clinical differences to specific molecular features have focused on somatic mutations within the coding regions of the genome. Here we report a pan-cancer analysis of sex differences in whole genomes of 1983 tumours of 28 subtypes as part of the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium. We both confirm the results of exome studies, and also uncover previously undescribed sex differences. These include sex-biases in coding and non-coding cancer drivers, mutation prevalence and strikingly, in mutational signatures related to underlying mutational processes. These results underline the pervasiveness of molecular sex differences and strengthen the call for increased consideration of sex in molecular cancer research.Sex differences have been observed in multiple facets of cancer epidemiology, treatment and biology, and in most cancers outside the sex organs. Efforts to link these clinical differences to specific molecular features have focused on somatic mutations within the coding regions of the genome. Here we report a pan-cancer analysis of sex differences in whole genomes of 1983 tumours of 28 subtypes as part of the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium. We both confirm the results of exome studies, and also uncover previously undescribed sex differences. These include sex-biases in coding and non-coding cancer drivers, mutation prevalence and strikingly, in mutational signatures related to underlying mutational processes. These results underline the pervasiveness of molecular sex differences and strengthen the call for increased consideration of sex in molecular cancer research.Peer reviewe
Retrospective evaluation of whole exome and genome mutation calls in 746 cancer samples
- Author
- A Gordon Robertson
- Abdullah Kahraman
- Abel Gonzalez-Perez
- Adam A Margolin
- Adam Abeshouse
- Adam Grundhoff
- Adam J Struck
- Adam J Struck
- Adam J Wright
- Adam Lambert
- Adam P Butler
- Adam P Butler
- Adel El-Naggar
- Adnan M Nagrial
- Adrian Ally
- Adrian Baez-Ortega
- Adrian Thorogood
- Adriana Salcedo
- Adrienne M Flanagan
- Ake Borg
- Akihiro Fujimoto
- Akihiro Suzuki
- Akinyemi I Ojesina
- Alain Viari
- Alan J Robertson
- Alan P Hoyle
- Alan Thompson
- Alasdair Stenhouse
- Alastair M Thompson
- Aldo Scarpa
- Alessandro Pastore
- Alex Buchanan
- Alex Buchanan
- Alexander Claviez
- Alexander J Lazar
- Alexander Martinez-Fundichely
- Alfonso Muñoz
- Alfonso Valencia
- Aliaksei Z Holik
- Alice Meng
- Alicia L Bruzos
- Allison Creason
- Allison P Heath
- Alvin Wei Tian Ng
- Alvis Brazma
- Amaro Taylor-Weiner
- Amber L Johns
- Amie Radenbaugh
- Amit G Deshwar
- Ana Dueso-Barroso
- Ana Mijalkovic Mijalkovic-Lazic
- Ana Milovanovic
- Ana Milovanovic
- Andre Kahles
- Andrea Haake
- Andrea Holbrook
- Andrea L Richardson
- Andrea Mafficini
- Andrea Ruzzenente
- Andreas Behren
- Andreas Rosenwald
- Andreia V Pinho
- Andrew Berchuck
- Andrew D Cherniack
- Andrew J Dunford
- Andrew J Mungall
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- 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
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- Aquila Fatima
- Arcadi Navarro
- Arie B Brinkman
- Arif O Harmanci
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- Arnoud Boot
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- Axel Aretz
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- Bernardo Rodriguez-Martin
- Bernhard Radlwimmer
- Bernice H Wong
- Beth Karlan
- Bin Tean Teh
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- Birgit Burkhardt
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- Bodil Bjerkehagen
- Bogdan Czerniak
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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
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- Chawalit Pairojkul
- Chen Hong
- Chen Ye
- Cheng-Zhong Zhang
- Chin-Lee Wu
- Chip Stewart
- Chip Stewart
- Chip Stewart
- Choon Kiat Ong
- Chris Lawerenz
- Chris Mitchell
- Chris Sander
- Christian von Mering
- Christiane Buchholz
- Christina K Yung
- Christina K Yung
- Christina Yau
- Christine A Iacobuzio-Donahue
- Christine Chomienne
- Christine Desmedt
- Christine P'ng
- Christof von Kalle
- Christoph Borst
- Christoph Plass
- Christopher A Miller
- Christopher Benz
- Christopher J Scarlett
- Christopher J Yoon
- Christopher K Wong
- Christopher M Lalansingh
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- 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
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- Claudiu Farcas
- Clemency Jolly
- Colin A Purdie
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- 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
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- Daniel Baumhoer
- Daniel Hübschmann
- Daniel J Turner
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- Daniel M Berney
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- Daniel S Brewer
- Daniela S Gerhard
- Danielle Pasternack
- Darell Bigner
- Dariush Etemadmoghadam
- Darlene Lee
- Darrin F Taylor
- Dave Larson
- David A Wheeler
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- Dennis Wigle
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- Dianne E Chadwick
- Dido Lenze
- Dieter Kube
- Dieter Weichenhan
- Dilip D Giri
- Dimitri Livitz
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- Dirk Schadendorf
- Dmitry A Gordenin
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- Don Chalmers
- Dong Guanlan
- Dongbing Liu
- Donghoon Lee
- Donghui Tan
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- Douglas F Easton
- Douglas Voet
- Duncan Beardsmore
- Dursi Lewis Jonathan
- Edward W Rowe
- Eigo Shimizu
- Ekta Khurana
- Elaine R Mardis
- Electron Kebebew
- Elena Piñeiro-Yáñez
- Elena Provenzano
- Elias Campo
- Elisabet Barrera
- Elisabetta Sereni
- Elizabeth A Musgrove
- Elizabeth L Appelbaum
- Elizabeth L Christie
- Elli Papaemmanuil
- Ellrott Kyle
- Emilie Lalonde
- Eoghan Harrington
- Eric Chuah
- Eric Green
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- Eric Z Ma
- Eric Z Ma
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- Erik Larsson
- Erik Mayer
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- Erin Curley
- Ermin Hodzic
- Erwin G Van Meir
- Esa Pitkänen
- Esther Rheinbay
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- 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
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- Gaetan MacGrogan
- Gaetano Finocchiaro
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- Genta Nagae
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- George L Mihaiescu
- Georgia Escaramis
- Georgina V Long
- Gerd Nettekoven
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- German Ott
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- Gerstein Mark B
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- Getz Gad
- Ghislaine Scelo
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- Giampaolo Tortora
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- Giuseppe Malleo
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- Grace Tiao
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- Grant Sanders
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- Guanming Wu
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- Hailei Zhang
- Haiyan Irene Li
- Han Liang
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- Heidi Sofia
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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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- Husen M Umer
- Huy Q Dinh
- Hyung-Lae Kim
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- Ian Welch
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- Ignaty Leshchiner
- Ignaty Leshchiner
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- Ivo Buchhalter
- Ivo G Gut
- Ivo G Gut
- Ivon Harliwong
- Izar Villasante
- Iñigo Martincorena
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- J Robert O'Neill
- J Todd Auman
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- Jaswinder S Samra
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- Kai Ye
- Kai Ye
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- Taobo Hu
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- Vincenzo Corbo
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- Volker Hovestadt
- W Kimryn Rathmell
- W M Linehan
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- Wan Choi
- Wanding Zhou
- Wang Liang-Bo
- Weerasinghe Amila
- Wei Jiao
- Wendl Michael C
- Wenyi Wang
- Wenyi Wang
- Wenyi Wang
- Wheeler David A
- William B Isaacs
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- Willie Yu
- Winghing Wong
- Wojciech Bazant
- Wolfgang Huber
- Wolfram Klapper
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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
Genetic determinants of risk in pulmonary arterial hypertension: international genome-wide association studies and meta-analysis.
- Author
- Abrea Inna
- Adlard Julian
- Ahmad Ferhaan
- Ahmad Shazzra
- Ahmed Munaza
- Ahmed Sara
- Aitman Tim
- Alachkar Hana
- Allahua Melissa
- Allen Hana Lango
- Allsup David
- Almeida-King Jeff
- Almeida-Peters Sisama
- Aman Jurjan
- Amouyel Philippe
- Ancliff Philip
- Anderson Audrey
- Andrews Mary
- Antrobus Richard
- Archer Stephen L
- Argula Rahul
- Arkon Abby
- Armstrong Ruth
- Arno Gavin
- Arora Amit
- Ashford Sofie
- Astle William
- Aston Valerie
- Attwood Anthony
- Austin Eric D
- Ayesh Waleed
- Babbs Chris
- Badesch David
- Bakchoul Tamam
- Bakshi Sahil
- Bariana Tadbir
- Barnett Christopher
- Barve Mukta
- Barwell Julian
- Batai Ken
- Beckmann Joy
- Bennett David
- Bentley David
- Benza Raymond
- Bhatt Nitin
- Bierzynska Agnieszka
- Bindu John
- Birru Hellina
- Biss Tina
- Blake Randy
- Bleda Marta
- Boekwig Deedre
- Bogaard Harm
- Bogaard Harm J
- Bourne Christian
- Boyce Sara
- Bradley John
- Brady Daniela
- Breen Gerome
- Brennan Paul
- Brewer Carole
- Broach Debra
- Brod Naomi Clements
- Brody Linnea
- Brown Matthew
- Browning Michael
- Bruno Jackie
- Buchan Rachel
- Buckland Matthew
- Bueser Teofila
- Burger Charles D
- Burns Siobhan
- Burren Oliver
- Calleja Paul
- Carr-White Gerald
- Carss Keren
- Casanova Nancy
- Casey Ruth
- Caskey Elizabeth
- Caulfield Mark
- Cebola Ines
- Chakinala Murali
- Chambers Jennifer
- Chambers John
- Cheng Floria
- Chinnery Patrick F
- Christian Martin
- Church Colin
- Coghlan Gerry
- Coghlan John G
- Colby Elizabeth
- Cole Trevor
- Collins Janine
- Collins Peter
- Colombo Camilla
- Condliffe Robin
- Cook Stuart
- Cook Terry
- Cooper Nichola
- Cope Molly
- Cordell Shannon
- Correa Priscilla
- Corris Paul
- Corris Paul A
- Crisp-Hihn Abigail
- Curry Nicola
- Danesino Cesare
- Daniels Matthew
- Daugherty Louise
- Davis Anne
- Davis John
- Debette Stephanie
- Deevi Sri VV
- del Junco Holly
- DeMartino Jordyn
- Dent Timothy
- Desai Ankit A
- Devereux Jane
- Dewhurst Eleanor
- Dillon Laura
- Dixon Peter
- Do Robyn
- Dotson Anne
- Downes Kate
- Drake Jan
- Drazyk Anna
- Drewe Elizabeth
- Durst Louise
- Dutt Tina
- Edgar David
- Edwards Karen
- Egner William
- Elliott C Gregory
- Elwing Jean
- Erber Wendy
- Erwood Marie
- Estiu Maria C
- Evans Dafydd Gareth
- Evans Gillian
- Everington Tamara
- Eyries Melanie
- Eyries Mlanie
- Farber Hap
- Favier Remi
- Feliz Natalia
- Ferrer Jorge
- Fletcher Debra
- Fortin Terry
- Fox James
- Franke Andre
- Frantz Robert P
- Franzo Mya
- Frary Amy
- French Courtney
- Freson Kathleen
- Frontini Mattia
- Frost Adaani
- Gale Daniel
- Gall Henning
- Garcia Joe GN
- Geoghegan Claire
- Gerighty Terry
- Germain Marine
- Ghio Stefano
- Ghofrani Hossein-Ardeschir
- Gibbs J Simon R
- Gibbs Simon
- Gilmour Kimberley
- Girerd Barbara
- Goddard Sarah
- Gomez Keith
- Gordins Pavels
- Gosal David
- Graf Stefan
- Grassi Luigi
- Greene Daniel
- Greenhalgh Lynn
- Greinacher Andreas
- Gresele Paolo
- Griffiths Philip
- Grigoriadou Sofia
- Grocock Russell
- Grozeva Detelina
- Gruhlke Peggy
- Gygi Amber
- Hackett Scott
- Hadinnapola Charaka
- Hague William
- Haimel Matthias
- Hall Matthew
- Hannon Kelly
- Hanscombe Ken B
- Hanson Helen
- Harbaum Lars
- Harkness Kirsty
- Harley John
- Harper Andrew
- Harrington Brandy
- Harris Claire
- Hart Daniel
- Hassan Ahamad
- Hawke Lindsey
- Hawkes Nicholas
- Hayman Grant
- He Hua
- Henderson Alex
- Heuerman Sharon
- Hill Nicholas S
- Hirsch Russel
- Hoffmann Jonathan
- Holy Royanne
- Horvath Rita
- Houweling Arjan
- Houweling Arjan C
- Howard Luke
- Howard Luke S
- Hu Fengyuan
- Hudson Gavin
- Hughes Joseph
- Huissoon Aarnoud
- Humbert Marc
- Humphray Sean
- Hunter Sarah
- Hurles Matthew
- Iem Thoeun
- Igenoza Tosin
- Ingledue Rebecca
- Ivy Dunbar
- Izatt Louise
- Jackson Esperanza
- James Roger
- Johnson Sally
- Jolles Stephen
- Jolley Jennifer
- Jurkute Neringa
- Kaakinen Marika
- Karnekar Reema
- Karnes Jason H
- Kasanicki Mary
- Kazkaz Hanadi
- Kazmi Rashid
- Kelleher Peter
- Kennedy Karla
- Kiely David
- Kiely David G
- Kingston Nathalie
- Kittles Richard
- Klima Robert
- Klinger James
- Knight Jo
- Kostadima Myrto
- Kovacs Gabor
- Koziell Ania
- Kreuzhuber Roman
- Kuijpers Taco
- Kumar Ajith
- Kumararatne Dinakantha
- Kurian Manju
- Laffan Michael
- Lahm Tim
- Lalloo Fiona
- Lambert Michele
- Larimore Daniel
- Laudes Matthias
- Lawrie Allan
- Layton Mark
- Lee Jennifer
- Lemma Merte
- Lentaigne Claire
- Levine Adam
- Lewis Karlise
- Light Allison
- Linger Rachel
- Longhurst Hilary
- Louka Eleni
- Lovato Ellen
- Lutz Katie
- MacDonald Catherine
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- Worth Austen
- Yates Katherine
- Yong Patrick
- Young Tim
- Yu Ping
- Yu-Wai-Man Patrick
- Yung Delphine
- Ziemak Caitlin
- Publication venue
- Lancet Respir Med
- Publication date
- 26/09/2018
- Field of study
BACKGROUND: Rare genetic variants cause pulmonary arterial hypertension, but the contribution of common genetic variation to disease risk and natural history is poorly characterised. We tested for genome-wide association for pulmonary arterial hypertension in large international cohorts and assessed the contribution of associated regions to outcomes. METHODS: We did two separate genome-wide association studies (GWAS) and a meta-analysis of pulmonary arterial hypertension. These GWAS used data from four international case-control studies across 11 744 individuals with European ancestry (including 2085 patients). One GWAS used genotypes from 5895 whole-genome sequences and the other GWAS used genotyping array data from an additional 5849 individuals. Cross-validation of loci reaching genome-wide significance was sought by meta-analysis. Conditional analysis corrected for the most significant variants at each locus was used to resolve signals for multiple associations. We functionally annotated associated variants and tested associations with duration of survival. All-cause mortality was the primary endpoint in survival analyses. FINDINGS: A locus near SOX17 (rs10103692, odds ratio 1·80 [95% CI 1·55-2·08], p=5·13 × 10-15) and a second locus in HLA-DPA1 and HLA-DPB1 (collectively referred to as HLA-DPA1/DPB1 here; rs2856830, 1·56 [1·42-1·71], p=7·65 × 10-20) within the class II MHC region were associated with pulmonary arterial hypertension. The SOX17 locus had two independent signals associated with pulmonary arterial hypertension (rs13266183, 1·36 [1·25-1·48], p=1·69 × 10-12; and rs10103692). Functional and epigenomic data indicate that the risk variants near SOX17 alter gene regulation via an enhancer active in endothelial cells. Pulmonary arterial hypertension risk variants determined haplotype-specific enhancer activity, and CRISPR-mediated inhibition of the enhancer reduced SOX17 expression. The HLA-DPA1/DPB1 rs2856830 genotype was strongly associated with survival. Median survival from diagnosis in patients with pulmonary arterial hypertension with the C/C homozygous genotype was double (13·50 years [95% CI 12·07 to >13·50]) that of those with the T/T genotype (6·97 years [6·02-8·05]), despite similar baseline disease severity. INTERPRETATION: This is the first study to report that common genetic variation at loci in an enhancer near SOX17 and in HLA-DPA1/DPB1 is associated with pulmonary arterial hypertension. Impairment of SOX17 function might be more common in pulmonary arterial hypertension than suggested by rare mutations in SOX17. Further studies are needed to confirm the association between HLA typing or rs2856830 genotyping and survival, and to determine whether HLA typing or rs2856830 genotyping improves risk stratification in clinical practice or trials. FUNDING: UK NIHR, BHF, UK MRC, Dinosaur Trust, NIH/NHLBI, ERS, EMBO, Wellcome Trust, EU, AHA, ACClinPharm, Netherlands CVRI, Dutch Heart Foundation, Dutch Federation of UMC, Netherlands OHRD and RNAS, German DFG, German BMBF, APH Paris, INSERM, Université Paris-Sud, and French ANR
Publisher Correction: Whole-genome sequencing of a sporadic primary immunodeficiency cohort (Nature, (2020), 583, 7814, (90-95), 10.1038/s41586-020-2265-1)
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- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 06/08/2020
- Field of study
An amendment to this paper has been published and can be accessed via a link at the top of the paper
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- Crosby Alfred W
- Dabringhaus Sabine
- Dam Kenneth W
- Darwin John
- Das Gupta Ashin
- Daunton Martin
- David Thomas
- Davids Karel
- Davis Lance E
- Davis Ralph
- Davis Robert C
- Deakin S.
- Deane Phyllis
- Deng Kent
- Deng Kent
- Devine T.M.
- Diamond Jared
- Diamond Jared
- Dincecco Mark
- Dixin Xu
- Drayton Richard
- Drayton Richard
- Dudley Leonard
- Dunstan Helen
- Dunstan Helen
- Easterly William
- Easterly William
- Elliott John H
- Elman B.A.
- Eltis David
- Elvin Mark
- Elvin Mark
- Emmer Pieter C
- Emsley C.
- Engelen Theo
- Engerman Stanley L
- Epstein Stephan R
- Epstein Stephan R
- Escosura Leandro
- Etemad Bouda
- Etemad Bouda
- Etemad Bouda
- Evans Eric J
- Feinstein Charles
- Feldbauer Peter
- Ferguson Niall
- Ferguson Niall
- Fernµndez-Armesto Felipe
- Feuerwerker Albert
- Feuerwerker Albert
- Findlay Ronald
- Fletcher Joseph
- Floud Roderick
- Flynn Dennis
- Foucault Michel
- Francks Penelope
- Frank Andre Gunder
- Freeman
- Friedel Robert
- Friedman
- Fukuyama Francis
- Fukuyama Francis
- Fukuyama Francis
- Furniss Edgar S
- Gaastra Femme
- Galor Oded
- Galor Oded
- Galor Oded
- Gardella Robert
- Gates Hill
- Gauci Perry
- Gellner Ernest
- GenÅ Mehmet
- Gerschenkron Alexander
- Getzer Joshua
- Gladwell Malcolm
- Glaeser Edward L
- Glass David V
- Golas Peter J
- Goldstone Jack A. A
- Goldstone Jack A. A
- Goldstone Jack A. A
- Goody
- Goody
- Gorski Philip S
- Gorski Philip S
- Gozzini Giovanni
- Graeber David
- Greenfeld Liah
- Greenfeld Liah
- Grigg D.B.
- Grigg D.B.
- Grigg D.B.
- Gruzinski Serge
- Gupta Bishnupriya
- Habakkuk J.H.
- Hall John A
- Hall John A
- Hall Peter
- Hall Peter A
- Hanley Susan B
- Hanson Victor Davis
- Harley C. Knick
- Harold Dorn
- Harrison Henrietta
- Harrison Lawrence E
- Harrison Lawrence E
- Hartog
- Hatton Tim
- Hayami A.
- Hayami Akira
- Hayami Akira
- Headrick Daniel R
- Headrick Daniel R
- Headrick Daniel R
- Heilbroner Robert L
- Helpman Elhanan
- Helpman Elhanan
- Herbst Jeffrey
- Herlihy David
- Hicks John
- Higonnet Patrice
- Hilton Rodney
- Hirschman Albert O
- Hobsbawm Eric
- Hobson John M
- Hofstede Geert
- Holton Robert J
- Hont Istvan
- Hsü Immanuel C.Y.
- Huang Philip C.C.
- Hudson Pat
- Huff Toby E
- Huff Toby E
- Hugill Peter J
- Humphries Jane
- Hunt E.H.
- Inkster Ian
- Irwin Douglas A
- Isett Christopher Mills
- Jacob Margaret C
- Jacob Margaret C
- James Lawrence
- Jay Peter
- Jeffrey Williamson
- Jevons William Stanley
- Jones Eric L
- Jones Eric L
- Jones Eric L
- Jutte Robert
- Kain Roger J.P.
- Kalberg Stephen
- Kealey Terence
- Keefer
- Kenwood A.G.
- Keynes John Maynard
- Keynes John Maynard
- Kiesewetter Hubert
- King F. H.
- Knight F.H.
- Kocka Jürgen
- Komlos John
- Krugman Paul
- Kumagai Yukihisa
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- Käsler
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- Lal Deepak
- Lampe Klaus
- Landes David
- Landes David
- Landes David
- Lane Frederic
- Langford Paul
- Langlois Rosaire
- Le Goff Jacques
- Lee James Z
- Legarda Benito J
- Lehner Georg
- Leonard Jane K
- Leonard Jane K
- Lesger ClØ
- Li Bozhong
- Lieberman Victor
- Lieberman Victor
- Lieberman Victor
- Lin China Upside
- Lindert Peter H
- Lippit Victor D
- Lipsey R.G. K.I.
- Lipton Michael
- List Friedrich
- Liu Justin Yifu
- Livi-Bacci
- Lloyd Christopher
- Lorenzetti Luigi
- Lovell Julia
- Lucas R.E.
- Lynch K.A.
- Lynn John
- Ma
- Macdonald James
- Macfarlane Alan
- Macfarlane Alan
- Macleod Christine
- Maddison Angus
- Magnusson Lars
- Magnusson Lars
- Magnusson Lars
- Malanima Paulo
- Malanima Paulo
- Mallory Walter H
- Mann Charles C
- Mann Charles C
- Mann Michael
- Mann Michael
- Mann Michael
- Mann Susan
- Manning J.M.
- Mark Overton
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- Marshall P.J.
- Mathias Peter
- Mathias Peter
- Matthee Rudy
- Mazumdar Sucheta
- McCloskey Deirdre
- McCloskey Deirdre
- McCraw Thomas K
- McNeill John R
- McNeill William H
- Meredith David
- Micklethwait
- Milanovic Branko
- Milgate Murray
- Milionakis Dimitris
- Mills Greg
- Minami Ryoshin
- Mintz Sidney
- Mitch David
- Mitch David
- Mitchell B.R.
- Mitterauer Michael
- Moe Espen
- Mokyr Joel
- Mokyr Joel
- Mokyr Joel
- Mokyr Joel
- Mokyr Joel
- Mokyr Joel
- Moore Barrington
- Morgan Kenneth
- Morris Ian
- Morris Ian
- Moulier-Boutang Yann
- Muchembled Robert
- Muldrew Craig
- Mumford Lewis
- Mumy Gene E
- Murray Charles
- Murray Williamson A
- Musson A.E.
- MØnard
- N'Diaye Tidiane
- Nasar Sylvia
- Needham Joseph
- Needham Joseph
- Needham Joseph
- Needham Joseph
- Nef John U
- Nieboer H.J.
- Nordhaus
- Norman E. Herbert
- North Douglass C
- North Douglass C
- Northrup David
- Nye John V.C.
- O'Brien
- O'Brien Patrick
- Ogilvie
- Ogilvie Sheilagh
- Olson Mancur
- Ormrod David
- Oshima H.T.
- Osterhammel Jürgen
- Osterhammel Jürgen
- Overton Mark
- Pacey Arnold
- Palmer S.H.
- Pamuk Sevket
- Parker Geoffrey
- Parthasarathi Prasannan
- Passin Herbert
- Paula Gary A
- Perdue Peter C
- Perkins Dwight
- Peyrefitte Alain
- Peyrefitte Alain
- Pinto
- Pollard Sidney
- Pollard Sidney
- Pomeranz Kenneth
- Pomeranz Kenneth
- Porter Bruce D
- Porter Roy
- Postma Johannes
- Powelson John P
- Prados de la Escosura Leandro
- Putnam Robert D
- PØtrØ-Grenouilleau Olivier
- Quataert Donald
- Quinn S.
- Rawski Evelyn S
- Reardon-Anderson James
- Ricardo David
- Ridley Matt
- Ringmar Eric
- Ringrose David A
- Rodger N.A.M.
- Rodrik Dani
- Rodrik Dani
- Romer
- Rosen William
- Rosenberg Nathan
- Ross E.A.
- Rostow Walt W
- Rowe William
- Rule John
- Sabel
- Sachs Jeffrey D
- Sassen Saskia
- Schlüter Andre
- Schumpeter Joseph A
- Schumpeter Joseph A
- Schumpeter Joseph A
- Schurz L. William
- Schwarz D. Leonard
- Sen Gautam
- Shammas Carole
- Sharma Ruchir
- Shaw William H
- Sheridan R.B.
- Sieferle
- Sieferle Rolf Peter
- Sigaut F.
- Simon Julian L
- Skidelsky Robert
- Smil Vaclav
- Smith Adam
- Smith Richard J
- Solow
- Sombart Werner
- Soto
- Sowell Thomas
- Spadafora David
- Spierenburg Pieter
- Spufford Francis
- Stangeland Charles Emil
- Stark Rodney
- Steedman Carolyn
- Steensgaard Niels
- Stein Burton
- Steinfeld Robert J
- Stiglitz Joseph
- Storrs Christopher
- Studwell Joe
- Sun Tu Zen
- Taleb Nassim Nicholas
- Teich Mikulµš
- Teltscher Kate
- Temple Robert
- Thomas Brinley
- Thomas Brinley
- Thomas R.P.
- Tilly Charles
- Tilly Charles
- Toledano E.R.
- Toledano E.R.
- Torres Sµnchez
- Tracy James D
- Tracy James D
- United Nations University International Human Dimensions Programme/United Nations Environment Programme
- Van Dyke Paul A
- Veen
- Verley Patrick
- Vittorio Antonio Di
- Voth Hans-Joachim
- Vries
- Vries
- Vries
- Vries Peer
- Vries Peer
- Vries Woude
- Wade Robert
- Wagenbreth Otfried
- Wakefield D.
- Waley-Cohen Joanna
- Wallerstein Immanuel
- Wallerstein Immanuel
- Wallerstein Immanuel
- Wallerstein Immanuel
- Wallerstein Immanuel
- Wallerstein Immanuel
- Warde Paul
- Warsh David
- Webb Walter Prescott
- Weber Max
- Weber Max
- Weber Max
- Wei Betty
- Weightman Gavin
- Weisser Michael
- White Colin
- Whitehead Alfred North
- Wiles R.C.
- Will Pierre-Étienne
- Williams Eric
- Winch Donald
- Wittfogel Karl August
- Wong Roy Bin
- Woo-Cumings Meredith
- Wood Ellen Meiksins
- Woodman Harold D
- Woodruff William
- Woods Thomas E
- Wright Gavin
- Wright John
- Wright Robert
- Wrigley E.A.
- Wrigley E.A.
- Xiaotong Fei
- Zamagni Vera
- Zanden Jan
- Zanden Jan
- Zanden Jan
- Zelin Madeleine
- Zheng Yangwen
- Zhuang Guotu
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- 'Vandenhoeck & Ruprecht GmbH & Co, KG'
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