Network expansion of genetic associations defines a pleiotropy map of human cell biology.
Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23
Variant appearance in text: BRCA2: 3504G>T; Met1168Ile
Comprehensive annotation of BRCA1 and BRCA2 missense variants by functionally validated sequence-based computational prediction models.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Hart, Steven N SN; Hoskin, Tanya T; Shimelis, Hermela H; Moore, Raymond M RM; Feng, Bingjian B; Thomas, Abigail A; Lindor, Noralane M NM; Polley, Eric C EC; Goldgar, David E DE; Iversen, Edwin E; Monteiro, Alvaro N A ANA; Suman, Vera J VJ; Couch, Fergus J FJ
Molecular characterization of metastatic pancreatic neuroendocrine tumors (PNETs) using whole-genome and transcriptome sequencing.
Cold Spring Harbor Molecular Case Studies
Wong, Hui-Li HL; Yang, Kevin C KC; Shen, Yaoqing Y; Zhao, Eric Y EY; Loree, Jonathan M JM; Kennecke, Hagen F HF; Kalloger, Steve E SE; Karasinska, Joanna M JM; Lim, Howard J HJ; Mungall, Andrew J AJ; Feng, Xiaolan X; Davies, Janine M JM; Schrader, Kasmintan K; Zhou, Chen C; Karsan, Aly A; Jones, Steven J M SJM; Laskin, Janessa J; Marra, Marco A MA; Schaeffer, David F DF; Gorski, Sharon M SM; Renouf, Daniel J DJ
Publication Date: 2018-02
Variant appearance in text: BRCA2: 3504G>T; M1168I