Multi-platform discovery of haplotype-resolved structural variation in human genomes
Mark JP Chaisson, Ashley D Sanders, Xuefang Zhao, Ankit Malhotra, David Porubsky, Tobias Rausch, Eugene J Gardner, Oscar L Rodriguez, Li Guo, Ryan L Collins, Xian Fan, Jia Wen, Robert E Handsaker, Susan Fairley, Zev N Kronenberg, Xiangmeng Kong, Fereydoun Hormozdiari, Dillon Lee, Aaron M Wenger, Alex R Hastie, Danny Antaki, Thomas Anantharaman, Peter A Audano, Harrison Brand, Stuart Cantsilieris, Han Cao, Eliza Cerveira, Ken Chen, Xintong Chen, Chen-Shan Chin, Zechen Chong, Nelson T Chuang, Christine C Lambert, Deanna M Church, Laura Clarke, Andrew Farrell, Joey Flores, Timur Galeev, David U Gorkin, Madhusudan Gujral, Victor Guryev, William Haynes Heaton, Jonas Korlach, Sushant Kumar, Jee Young Kwon, Ernest T Lam, Jong Eun Lee, Joyce Lee, Charles Lee, Sau Peng Lee, Shantao Li, Patrick Marks, Karine Viaud-Martinez, Sascha Meiers, Katherine M Munson, Fabio CP Navarro, Bradley J Nelson, Conor Nodzak, Amina Noor, Sofia Kyriazopoulou-Panagiotopoulou, Andy WC Pang, Yunjiang Qiu, Gabriel Rosanio, Mallory Ryan, Adrian Stütz, Diana CJ Spierings, Alistair Ward, AnneMarie E Welch, Ming Xiao, Wei Xu, Chengsheng Zhang, Qihui Zhu, Xiangqun Zheng-Bradley, Ernesto Lowy, Sergei Yakneen, Steven McCarroll, Goo Jun, Li Ding, Chong Lek Koh, Bing Ren, Paul Flicek, Mark B Gerstein, Pui-Yan Kwok, Peter M Lansdorp, Gabor T Marth, Jonathan Sebat, Xinghua Shi, Ali Bashir, Kai Ye, Scott E Devine, Michael E Talkowski, Ryan Mills, Tobias Marschall, Jan O Korbel, Evan E Eichler
Rapid, ultra low coverage copy number profiling of cell-free DNA as a precision oncology screening strategy
Daniel H Hovelson, Chia-Jen Liu, Yugang Wang, Qing Kang, James Henderson, Amy Gursky, Scott Brockman, Nithya Ramnath, John Krauss, Moshe Talpaz, Malathi Kandarpa, Rashmi Chugh, Missy Tuck, Kirk Herman, Catherine S Grasso, Michael J Quist, Felix Y Feng, Christine Haakenson, John Langmore, Emmanuel Kamberov, Tim Tesmer, Hatim Husain, Robert J Lonigro, Dan Robinson, David Smith, Ajjai Alva, Maha H Hussain, Arul Chinnaiyan, Muneesh Tewari, Ryan Mills, Todd Morgan, Scott Tomlins
Intersection of diverse neuronal genomes and neuropsychiatric disease: The Brain Somatic Mosaicism Network
Michael J McConnell, John Moran, Alexej Abyzov, Schahram Akbarian, Taejeong Bae, Isidro Cortes-Ciriano, Jennifer A Erwin, Liana Fasching, Diane A Flasch, Donald Freed, Javier Ganz, Andrew E Jaffe, Kenneth Kwan, Minseok Kwon, Michael A Lodato, Ryan Mills, Apua CM Paquola, Rachel E Rodin, Chaggai Rosenbluh, Nenad Sestan, Maxwell A Sherman, Joo Heon Shin, Saera Song, Richard E Straub, Jeremy Thorpe, Daniel R Weinberger, Alexander E Urban, Bo Zhou, Fred H Gage, Thomas Lehner, Geetha Senthil, Christopher A Walsh, Andrew Chess, Eric Courchesne, Joseph G Gleeson, Jeffrey Kidd, Peter J Park, Jonathan Pevsner, Flora M Vaccarino, Brain Somatic Mosaicism Network
A global reference for human genetic variation
European Bioinformatics InstituteFlicekPaul12BarkerJonathan12ClarkeLaura12GilLaurent12HuntSarah E.12KelmanGavin12KuleshaEugene12LeinonenRasko12McLarenWilliam M.12RadhakrishnanRajesh12RoaAsier12SmirnovDmitriy12SmithRichard E.12StreeterIan12ThormannAnja12TonevaIliana12VaughanBrendan12Zheng-BradleyXiangqun12IlluminaBentleyDavid R.5GrocockRussell5HumphraySean5JamesTerena5KingsburyZoya5Max Planck Institute for Molecular GeneticsLehrachHans2021SudbrakRalf32AlbrechtMarcus W.33AmstislavskiyVyacheslav S.20BorodinaTatiana A.33LienhardMatthias20MertesFlorian20SultanMarc20TimmermannBernd20YaspoMarie-Laure20McDonnell Genome Institute at Washington UniversityMardisElaine R. 22WilsonRichard K.22FultonLucinda22FultonRobert22US National Institutes of HealthSherryStephen T.25AnanievVictor25BelaiaZinaida25BeloslyudtsevDimitriy25BoukNathan25ChenChao25ChurchDeanna34CohenRobert25CookCharles25GarnerJohn25HefferonTimothy25KimelmanMikhail25LiuChunlei25LopezJohn25MericPeter25O’SullivanChris35OstapchukYuri25PhanLon25PonomarovSergiy25SchneiderValerie25ShekhtmanEugene25SirotkinKarl25SlottaDouglas25ZhangHua25University of OxfordMcVeanGil A.89Wellcome Trust Sanger InstituteDurbinRichard M.4BalasubramaniamSenduran4BurtonJohn4DanecekPetr4KeaneThomas M.4Kolb-KokocinskiAnja4McCarthyShane4StalkerJames4QuailMichael4Analysis groupAffymetrixSchmidtJeanette P.24DaviesChristopher J.24GollubJeremy24WebsterTeresa24WongBrant24ZhanYiping24Albert Einstein College of MedicineAutonAdam1CampbellChristopher L.1KongYu1MarckettaAnthony1Baylor College of MedicineGibbsRichard A.14YuFuli14AntunesLilian14BainbridgeMatthew14MuznyDonna14SaboAniko14HuangZhuoyi14BGI-ShenzhenWangJun2627282930CoinLachlan J. M.26FangLin2627GuoXiaosen26JinXin26LiGuoqing26LiQibin26LiYingrui26LiZhenyu26LinHaoxiang26LiuBinghang26LuoRuibang26ShaoHaojing26XieYinlong26YeChen26YuChang26ZhangFan26ZhengHancheng26ZhuHongmei26Bilkent UniversityAlkanCan36DalElif36KahveciFatma36Boston CollegeMarthGabor T.23GarrisonErik P.4KuralDeniz37LeeWan-Ping37Fung LeongWen38StrombergMichael39WardAlistair N.23WuJiantao39ZhangMengyao40Broad Institute of MIT and HarvardDalyMark J.13DePristoMark A.41HandsakerRobert E.1340AltshulerDavid M.3BanksEric13BhatiaGaurav13del AngelGuillermo13GabrielStacey B.13GenoveseGiulio13GuptaNamrata13LiHeng13KashinSeva1340LanderEric S.13McCarrollSteven A.1340NemeshJames C.13PoplinRyan E.13Cold Spring Harbor LaboratoryYoonSeungtai C.42LihmJayon42MakarovVladimir43Cornell UniversityClarkAndrew G.7GottipatiSrikanth44KeinanAlon7Rodriguez-FloresJuan L.45European Molecular Biology LaboratoryKorbelJan O.1217RauschTobias1746FritzMarkus H.46StützAdrian M.17European Molecular Biology Laboratory The 1000 Genomes Project ConsortiumCorresponding authorsAutonAdam1bAbecasisGonçalo R.2cSteering committeeAltshulerDavid M.3DurbinRichard M.4AbecasisGonçalo R.2dBentleyDavid R.5ChakravartiAravinda6ClarkAndrew G.7DonnellyPeter89EichlerEvan E.1011FlicekPaul12GabrielStacey B.13GibbsRichard A.14GreenEric D.15HurlesMatthew E.4KnoppersBartha M.16KorbelJan O.1217LanderEric S.13LeeCharles1819LehrachHans2021MardisElaine R.22MarthGabor T.23McVeanGil A.89NickersonDeborah A.10SchmidtJeanette P.24SherryStephen T.25WangJun2627282930WilsonRichard K.22Production groupBaylor College of MedicineGibbsRichard A.14BoerwinkleEric14DoddapaneniHarsha14HanYi14KorchinaViktoriya14KovarChristie14LeeSandra14MuznyDonna14ReidJeffrey G.14ZhuYiming14BGI-ShenzhenWangJun2627282930ChangYuqi26FengQiang2627FangXiaodong2627GuoXiaosen2627JianMin2627JiangHui2627JinXin26LanTianming26LiGuoqing26LiJingxiang26LiYingrui26LiuShengmao26LiuXiao2627LuYao26MaXuedi26TangMeifang26WangBo26WangGuangbiao26WuHonglong26WuRenhua26XuXun26YinYe26ZhangDandan26ZhangWenwei26ZhaoJiao26ZhaoMeiru26ZhengXiaole26Broad Institute of MIT and HarvardLanderEric S.13AltshulerDavid M.3GabrielStacey B.13GuptaNamrata13Coriell Institute for Medical ResearchGharaniNeda31TojiLorraine H.31GerryNorman P.31ReschAlissa M.31European Molecular Biology Laboratory, Goncalo Abecasis, Hyun Min Kang, Ryan Mills, Jeffrey Kidd, Lars Fritsche
An integrated map of structural variation in 2,504 human genomes
Peter H Sudmant, Tobias Rausch, Eugene J Gardner, Robert E Handsaker, Alexej Abyzov, John Huddleston, Jing Zhang, Kai Ye, Goo Jun, Markus Hsi-Yang Fritz, Miriam K Konkel, Ankit Malhotra, Adrian M Stütz, Xinghua Shi, Francesco Paolo Casale, Jieming Chen, Fereydoun Hormozdiari, Gargi Dayama, Ken Chen, Maika Malig, Mark JP Chaisson, Klaudia Walter, Sascha Meiers, Seva Kashin, Erik Garrison, Adam Auton, Hugo YK Lam, Xinmeng Jasmine Mu, Can Alkan, Danny Antaki, Taejeong Bae, Eliza Cerveira, Peter Chines, Zechen Chong, Laura Clarke, Elif Dal, Li Ding, Sarah Emery, Xian Fan, Madhusudan Gujral, Fatma Kahveci, Jeffrey Kidd, Yu Kong, Eric-Wubbo Lameijer, Shane McCarthy, Paul Flicek, Richard A Gibbs, Gabor Marth, Christopher E Mason, Androniki Menelaou, Donna M Muzny, Bradley J Nelson, Amina Noor, Nicholas F Parrish, Matthew Pendleton, Andrew Quitadamo, Benjamin Raeder, Eric E Schadt, Mallory Romanovitch, Andreas Schlattl, Robert Sebra, Andrey A Shabalin, Andreas Untergasser, Jerilyn A Walker, Min Wang, Fuli Yu, Chengsheng Zhang, Xiangqun Zheng-Bradley, Wanding Zhou, Thomas Zichner, Jonathan Sebat, Mark A Batzer, Steven A McCarroll, The 1000 Genomes Project Consortium, Ryan Mills, Mark B Gerstein, Ali Bashir, Oliver Stegle, Scott E Devine, Charles Lee, Evan E Eichler, Jan O Korbel
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