未登录 GATK-gCNV enables the discovery of rare copy number variants from exome sequencing data (Aug, 10.1038/s41588-023-01449-0, 2023) Babadi, Mehrtash; Fu, Jack M.; Lee, Samuel K.; Smirnov, Andrey N.; Gauthier, Laura D.; Walker, Mark; Benjamin, David I.; Zhao, Xuefang; Karczewski, Konrad J.; Wong, Isaac; Collins, Ryan L.; Sanchis-Juan, Alba; Brand, Harrison; Banks, Eric; Talkowski, Michael E. 分享 收藏
CHARR efficiently estimates contamination from DNA sequencing data Lu, Wenhan; Gauthier, Laura D.; Poterba, Timothy; Giacopuzzi, Edoardo; Goodrich, Julia K.; Stevens, Christine R.; King, Daniel; Daly, Mark J.; Neale, Benjamin M.; Karczewski, Konrad J. 分享 收藏
Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomalies Lowther, Chelsea; Valkanas, Elise; Giordano, Jessica L.; Wang, Harold Z.; Currall, Benjamin B.; O'Keefe, Kathryn; Pierce-Hoffman, Emma; Kurtas, Nehir E.; Whelan, Christopher W.; Hao, Stephanie P.; Weisburd, Ben; Jalili, Vahid; Fu, Jack; Wong, Isaac; Collins, Ryan L.; Zhao, Xuefang; Austin-Tse, Christina A.; Evangelista, Emily; Lemire, Gabrielle; Aggarwal, Vimla S.; Lucente, Diane; Gauthier, Laura D.; Tolonen, Charlotte; Sahakian, Nareh; Stevens, Christine; An, Joon-Yong; Dong, Shan; Norton, Mary E.; Mackenzie, Tippi C.; Devlin, Bernie; Gilmore, Kelly; Powell, Bradford C.; Brandt, Alicia; Vetrini, Francesco; Divito, Michelle; Sanders, Stephan J.; Macarthur, Daniel G.; Hodge, Jennelle C.; O'Donnell-Luria, Anne; Rehm, Heidi L.; Vora, Neeta L.; Levy, Brynn; Brand, Harrison; Wapner, Ronald J.; Talkowski, Michael E. 分享 收藏
GATK-gCNV enables the discovery of rare copy number variants from exome sequencing data Gatk-gcnv能够从外显子组测序数据中发现罕见的拷贝数变异 Babadi, Mehrtash; Fu, Jack M.; Lee, Samuel K.; Smirnov, Andrey N.; Gauthier, Laura D.; Walker, Mark; Benjamin, David I.; Zhao, Xuefang; Karczewski, Konrad J.; Wong, Isaac; Collins, Ryan L.; Sanchis-Juan, Alba; Brand, Harrison; Banks, Eric; Talkowski, Michael E. 分享 收藏
Systematic single-variant and gene-based association testing of thousands of phenotypes in 394,841 UK Biobank exomes Karczewski, Konrad J.; Solomonson, Matthew; Chao, Katherine R.; Goodrich, Julia K.; Tiao, Grace; Lu, Wenhan; Riley-Gillis, Bridget M.; Tsai, Ellen A.; Kim, Hye In; Zheng, Xiuwen; Rahimov, Fedik; Esmaeeli, Sahar; Grundstad, A. Jason; Reppell, Mark; Waring, Jeff; Jacob, Howard; Sexton, David; Bronson, Paola G.; Chen, Xing; Hu, Xinli; Goldstein, Jacqueline I.; King, Daniel; Vittal, Christopher; Poterba, Timothy; Palmer, Duncan S.; Churchhouse, Claire; Howrigan, Daniel P.; Zhou, Wei; Watts, Nicholas A.; Nguyen, Kevin; Nguyen, Huy; Mason, Cara; Farnham, Christopher; Tolonen, Charlotte; Gauthier, Laura D.; Gupta, Namrata; MacArthur, Daniel G.; Rehm, Heidi L.; Seed, Cotton; Philippakis, Anthony A.; Daly, Mark J.; Davis, J. Wade; Runz, Heiko; Miller, Melissa R.; Neale, Benjamin M. 分享 收藏
Rare coding variation provides insight into the genetic architecture and phenotypic context of autism 罕见的编码变异提供了对自闭症遗传结构和表型背景的洞察 Fu, Jack M.; Satterstrom, F. Kyle; Peng, Minshi; Brand, Harrison; Collins, Ryan L.; Dong, Shan; Wamsley, Brie; Klei, Lambertus; Wang, Lily; Hao, Stephanie P.; Stevens, Christine R.; Cusick, Caroline; Babadi, Mehrtash; Banks, Eric; Collins, Brett; Dodge, Sheila; Gabriel, Stacey B.; Gauthier, Laura; Lee, Samuel K.; Liang, Lindsay; Ljungdahl, Alicia; Mahjani, Behrang; Sloofman, Laura; Smirnov, Andrey N.; Barbosa, Mafalda; Betancur, Catalina; Brusco, Alfredo; Chung, Brian H. Y.; Cook, Edwin H.; Cuccaro, Michael L.; Domenici, Enrico; Ferrero, Giovanni Battista; Gargus, J. Jay; Herman, Gail E.; Hertz-Picciotto, Irva; Maciel, Patricia; Manoach, Dara S.; Passos-Bueno, Maria Rita; Persico, Antonio M.; Renieri, Alessandra; Sutcliffe, James S.; Tassone, Flora; Trabetti, Elisabetta; Campos, Gabriele; Cardaropoli, Simona; Carli, Diana; Chan, Marcus C. Y.; Fallerini, Chiara; Giorgio, Elisa; Girardi, Ana Cristina; Hansen-Kiss, Emily; Lee, So Lun; Lintas, Carla; Ludena, Yunin; Nguyen, Rachel; Pavinato, Lisa; Pericak-Vance, Margaret; Pessah, Isaac N.; Schmidt, Rebecca J.; Smith, Moyra; Costa, Claudia I. S.; Trajkova, Slavica; Wang, Jaqueline Y. T.; Yu, Mullin H. C.; Cutler, David J.; De Rubeis, Silvia; Buxbaum, Joseph D.; Daly, Mark J.; Devlin, Bernie; Roeder, Kathryn; Sanders, Stephan J.; Talkowski, Michael E. 分享 收藏
Mitochondrial DNA variation across 56,434 individuals in gnomAD Laricchia, Kristen M.; Lake, Nicole J.; Watts, Nicholas A.; Shand, Megan; Haessly, Andrea; Gauthier, Laura; Benjamin, David; Banks, Eric; Soto, Jose; Garimella, Kiran; Emery, James; Rehm, Heidi L.; MacArthur, Daniel G.; Tiao, Grace; Lek, Monkol; Mootha, Vamsi K.; Calvo, Sarah E. 分享 收藏
Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes (vol 11, 2539, 2020) Wang, Qingbo; Pierce-Hoffman, Emma; Cummings, Beryl B.; Alfoeldi, Jessica; Francioli, Laurent C.; Gauthier, Laura D.; Hill, Andrew J.; O'Donnell-Luria, Anne H.; Armean, Irina M.; Aguilar Salinas, Carlos A.; Karczewski, Konrad J.; MacArthur, Daniel G. 分享 收藏
Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes Wang, Qingbo; Pierce-Hoffman, Emma; Cummings, Beryl B.; Alfoldi, Jessica; Francioli, Laurent C.; Gauthier, Laura D.; Hill, Andrew J.; O'Donnell-Luria, Anne H.; Karczewski, Konrad J.; MacArthur, Daniel G. 分享 收藏
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