Whole-genome analysis of human embryonic stem cells enables rational line selection based on genetic variation.
Cell Stem Cell
Merkle, Florian T FT; Ghosh, Sulagna S; Genovese, Giulio G; Handsaker, Robert E RE; Kashin, Seva S; Meyer, Daniel D; Karczewski, Konrad J KJ; O'Dushlaine, Colm C; Pato, Carlos C; Pato, Michele M; MacArthur, Daniel G DG; McCarroll, Steven A SA; Eggan, Kevin K
Publication Date: 2022-03-03
Variant appearance in text: HOOK1: 2129A>G; His710Arg; rs34360310
Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.
Nature Communications
Fragoza, Robert R; Das, Jishnu J; Wierbowski, Shayne D SD; Liang, Jin J; Tran, Tina N TN; Liang, Siqi S; Beltran, Juan F JF; Rivera-Erick, Christen A CA; Ye, Kaixiong K; Wang, Ting-Yi TY; Yao, Li L; Mort, Matthew M; Stenson, Peter D PD; Cooper, David N DN; Wei, Xiaomu X; Keinan, Alon A; Schimenti, John C JC; Clark, Andrew G AG; Yu, Haiyuan H
An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.
Genome Biology
Brownstein, Catherine A CA; Beggs, Alan H AH; Homer, Nils N; Merriman, Barry B; Yu, Timothy W TW; Flannery, Katherine C KC; DeChene, Elizabeth T ET; Towne, Meghan C MC; Savage, Sarah K SK; Price, Emily N EN; Holm, Ingrid A IA; Luquette, Lovelace J LJ; Lyon, Elaine E; Majzoub, Joseph J; Neupert, Peter P; McCallie, David D; Szolovits, Peter P; Willard, Huntington F HF; Mendelsohn, Nancy J NJ; Temme, Renee R; Finkel, Richard S RS; Yum, Sabrina W SW; Medne, Livija L; Sunyaev, Shamil R SR; Adzhubey, Ivan I; Cassa, Christopher A CA; de Bakker, Paul I W PI; Duzkale, Hatice H; Dworzyński, Piotr P; Fairbrother, William W; Francioli, Laurent L; Funke, Birgit H BH; Giovanni, Monica A MA; Handsaker, Robert E RE; Lage, Kasper K; Lebo, Matthew S MS; Lek, Monkol M; Leshchiner, Ignaty I; MacArthur, Daniel G DG; McLaughlin, Heather M HM; Murray, Michael F MF; Pers, Tune H TH; Polak, Paz P PP; Raychaudhuri, Soumya S; Rehm, Heidi L HL; Soemedi, Rachel R; Stitziel, Nathan O NO; Vestecka, Sara S; Supper, Jochen J; Gugenmus, Claudia C; Klocke, Bernward B; Hahn, Alexander A; Schubach, Max M; Menzel, Mortiz M; Biskup, Saskia S; Freisinger, Peter P; Deng, Mario M; Braun, Martin M; Perner, Sven S; Smith, Richard J H RJ; Andorf, Janeen L JL; Huang, Jian J; Ryckman, Kelli K; Sheffield, Val C VC; Stone, Edwin M EM; Bair, Thomas T; Black-Ziegelbein, E Ann EA; Braun, Terry A TA; Darbro, Benjamin B; DeLuca, Adam P AP; Kolbe, Diana L DL; Scheetz, Todd E TE; Shearer, Aiden E AE; Sompallae, Rama R; Wang, Kai K; Bassuk, Alexander G AG; Edens, Erik E; Mathews, Katherine K; Moore, Steven A SA; Shchelochkov, Oleg A OA; Trapane, Pamela P; Bossler, Aaron A; Campbell, Colleen A CA; Heusel, Jonathan W JW; Kwitek, Anne A; Maga, Tara T; Panzer, Karin K; Wassink, Thomas T; Van Daele, Douglas D; Azaiez, Hela H; Booth, Kevin K; Meyer, Nic N; Segal, Michael M MM; Williams, Marc S MS; Tromp, Gerard G; White, Peter P; Corsmeier, Donald D; Fitzgerald-Butt, Sara S; Herman, Gail G; Lamb-Thrush, Devon D; McBride, Kim L KL; Newsom, David D; Pierson, Christopher R CR; Rakowsky, Alexander T AT; Maver, Aleš A; Lovrečić, Luca L; Palandačić, Anja A; Peterlin, Borut B; Torkamani, Ali A; Wedell, Anna A; Huss, Mikael M; Alexeyenko, Andrey A; Lindvall, Jessica M JM; Magnusson, Måns M; Nilsson, Daniel D; Stranneheim, Henrik H; Taylan, Fulya F; Gilissen, Christian C; Hoischen, Alexander A; van Bon, Bregje B; Yntema, Helger H; Nelen, Marcel M; Zhang, Weidong W; Sager, Jason J; Zhang, Lu L; Blair, Kathryn K; Kural, Deniz D; Cariaso, Michael M; Lennon, Greg G GG; Javed, Asif A; Agrawal, Saloni S; Ng, Pauline C PC; Sandhu, Komal S KS; Krishna, Shuba S; Veeramachaneni, Vamsi V; Isakov, Ofer O; Halperin, Eran E; Friedman, Eitan E; Shomron, Noam N; Glusman, Gustavo G; Roach, Jared C JC; Caballero, Juan J; Cox, Hannah C HC; Mauldin, Denise D; Ament, Seth A SA; Rowen, Lee L; Richards, Daniel R DR; San Lucas, F Anthony FA; Gonzalez-Garay, Manuel L ML; Caskey, C Thomas CT; Bai, Yu Y; Huang, Ying Y; Fang, Fang F; Zhang, Yan Y; Wang, Zhengyuan Z; Barrera, Jorge J; Garcia-Lobo, Juan M JM; González-Lamuño, Domingo D; Llorca, Javier J; Rodriguez, Maria C MC; Varela, Ignacio I; Reese, Martin G MG; De La Vega, Francisco M FM; Kiruluta, Edward E; Cargill, Michele M; Hart, Reece K RK; Sorenson, Jon M JM; Lyon, Gholson J GJ; Stevenson, David A DA; Bray, Bruce E BE; Moore, Barry M BM; Eilbeck, Karen K; Yandell, Mark M; Zhao, Hongyu H; Hou, Lin L; Chen, Xiaowei X; Yan, Xiting X; Chen, Mengjie M; Li, Cong C; Yang, Can C; Gunel, Murat M; Li, Peining P; Kong, Yong Y; Alexander, Austin C AC; Albertyn, Zayed I ZI; Boycott, Kym M KM; Bulman, Dennis E DE; Gordon, Paul M K PM; Innes, A Micheil AM; Knoppers, Bartha M BM; Majewski, Jacek J; Marshall, Christian R CR; Parboosingh, Jillian S JS; Sawyer, Sarah L SL; Samuels, Mark E ME; Schwartzentruber, Jeremy J; Kohane, Isaac S IS; Margulies, David M DM