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The Utah NeoSeq Project: a collaborative multidisciplinary program to facilitate genomic diagnostics in the neonatal intensive care unit Utah NeoSeq项目：一个促进新生儿重症监护室基因组诊断的协作性多学科项目 Jenkins, Sabrina Malone; Palmquist, Rachel N.; Moore, Barry; Boyden, Steven E.; Nicholas, Thomas J.; Bayrak-Toydemir, Pinar; Mao, Rong; Farrell, J. Andrew R.; Holt, Carson H.; Rynearson, Shawn G.; Solorzano, Chelsea M.; Ward, Alistair; Best, D. Hunter; Al-Sweel, Najla; Bentley, Dawn L.; Brunelli, Luca; Chow, Clement Y.; Close, Devin W.; Cormier, Michael J.; Deshotel, Malia J.; Durtschi, Jacob; Eide, Erik J.; Floyd, Luaiva; Fredrickson, Eric K.; Fulmer, Makenzie L.; Hernandez, Edgar J.; Kapron, Ashley L.; Karren, Mary Anne; Lewis, Robert G.; Miller, Christine E.; Murtaugh, L. Charles; Nicholson, Kelsey E.; Noble, Katherine; O'Fallon, Brendan D.; O'Shea, John M.; Pattison, David C.; Pedersen, Brent S.; Petersen, Brandy J.; Peterson, Bennet D.; Pizzo, Lucilla; Reynolds, Hayley M.; Rindler, Paul; Torr, Carrie B.; Wen, Ting; Yost, H. Joseph; Zhao, Jian; Yandell, Mark; Marth, Gabor T.; Quinlan, Aaron R.; Carey, John C.; Shayota, Brian J.; Tristani-Firouzi, Martin; Bonkowsky, Joshua L. 分享 收藏
Gene.iobio: an interactive web tool for versatile, clinically-driven variant interrogation and prioritization (vol 11, 20307, 2021) Di Sera, Tonya; Velinder, Matt; Ward, Alistair; Qiao, Yi; Georges, Stephanie; Miller, Chase; Pitman, Anders; Richards, Will; Ekawade, Aditya; Viskochil, David; Carey, John C.; Pace, Laura; Bale, Jim; Clardy, Stacey L.; Andrews, Ashley; Botto, Lorenzo; Marth, Gabor 分享 收藏
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Gene.iobio: an interactive web tool for versatile, clinically-driven variant interrogation and prioritization Di Sera, Tonya; Velinder, Matt; Ward, Alistair; Qiao, Yi; Georges, Stephanie; Miller, Chase; Pitman, Anders; Richards, Will; Ekawade, Aditya; Viskochil, David; Carey, John C.; Pace, Laura; Bale, Jim; Clardy, Stacey L.; Andrews, Ashley; Botto, Lorenzo; Marth, Gabor 分享 收藏
Multi-platform discovery of haplotype-resolved structural variation in human genomes 人类基因组单倍型解析结构变异的多平台发现 Chaisson, Mark J. P.; Sanders, Ashley D.; Zhao, Xuefang; Malhotra, Ankit; Porubsky, David; Rausch, Tobias; Gardner, Eugene J.; Rodriguez, Oscar L.; Guo, Li; Collins, Ryan L.; Fan, Xian; Wen, Jia; Handsaker, Robert E.; Fairley, Susan; Kronenberg, Zev N.; Kong, Xiangmeng; Hormozdiari, Fereydoun; Lee, Dillon; Wenger, Aaron M.; Hastie, Alex R.; Antaki, Danny; Anantharaman, Thomas; Audano, Peter A.; Brand, Harrison; Cantsilieris, Stuart; Cao, Han; Cerveira, Eliza; Chen, Chong; Chen, Xintong; Chin, Chen-Shan; Chong, Zechen; Chuang, Nelson T.; Lambert, Christine C.; Church, Deanna M.; Clarke, Laura; Farrell, Andrew; Flores, Joey; Galeev, Timur; Gorkin, David U.; Gujral, Madhusudan; Guryev, Victor; Heaton, William Haynes; Korlach, Jonas; Kumar, Sushant; Kwon, Jee Young; Lam, Ernest T.; Lee, Jong Eun; Lee, Joyce; Lee, Wan-Ping; Lee, Sau Peng; Li, Shantao; Marks, Patrick; Viaud-Martinez, Karine; Meiers, Sascha; Munson, Katherine M.; Navarro, Fabio C. P.; Nelson, Bradley J.; Nodzak, Conor; Noor, Amina; Kyriazopoulou-Panagiotopoulou, Sofia; Pang, Andy W. C.; Qiu, Yunjiang; Rosanio, Gabriel; Ryan, Mallory; Stuetz, Adrian; Spierings, Diana C. J.; Ward, Alistair; Welch, AnneMarie E.; Xiao, Ming; Xu, Wei; Zhang, Chengsheng; Zhu, Qihui; Zheng-Bradley, Xiangqun; Lowy, Ernesto; Yakneen, Sergei; McCarroll, Steven; Jun, Goo; Ding, Li; Koh, Chong Lek; Ren, Bing; Flicek, Paul; Chen, Ken; Gerstein, Mark B.; Kwok, Pui-Yan; Lansdorp, Peter M.; Marth, Gabor T.; Sebat, Jonathan; Shi, Xinghua; Bashir, Ali; Ye, Kai; Devine, Scott E.; Talkowski, Michael E.; Mills, Ryan E.; Marschall, Tobias; Korbel, Jan O.; Eichler, Evan E.; Lee, Charles 分享 收藏
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The functional spectrum of low-frequency coding variation Marth, Gabor T.; Yu, Fuli; Indap, Amit R.; Garimella, Kiran; Gravel, Simon; Leong, Wen Fung; Tyler-Smith, Chris; Bainbridge, Matthew; Blackwell, Tom; Zheng-Bradley, Xiangqun; Chen, Yuan; Challis, Danny; Clarke, Laura; Ball, Edward V.; Cibulskis, Kristian; Cooper, David N.; Fulton, Bob; Hartl, Chris; Koboldt, Dan; Muzny, Donna; Smith, Richard; Sougnez, Carrie; Stewart, Chip; Ward, Alistair; Yu, Jin; Xue, Yali; Altshuler, David; Bustamante, Carlos D.; Clark, Andrew G.; Daly, Mark; DePristo, Mark; Flicek, Paul; Gabriel, Stacey; Mardis, Elaine; Palotie, Aarno; Gibbs, Richard 分享 收藏
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