Quantifying prediction of pathogenicity for within-codon concordance (PM5) using 7541 functional classifications of BRCA1 and MSH2 missense variants.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Loong, Lucy L; Cubuk, Cankut C; Choi, Subin S; Allen, Sophie S; Torr, Beth B; Garrett, Alice A; Loveday, Chey C; Durkie, Miranda M; Callaway, Alison A; Burghel, George J GJ; Drummond, James J; Robinson, Rachel R; Berry, Ian R IR; Wallace, Andrew A; Eccles, Diana M DM; Tischkowitz, Marc M; Ellard, Sian S; Ware, James S JS; Hanson, Helen H; Turnbull, Clare C; ,
Publication Date: 2022-03
Variant appearance in text: MSH2: 134C>T; Ala45Val
REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.
Scientific Reports
Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D
A Bayesian framework for efficient and accurate variant prediction.
Plos One
Qian, Dajun D; Li, Shuwei S; Tian, Yuan Y; Clifford, Jacob W JW; Sarver, Brice A J BAJ; Pesaran, Tina T; Gau, Chia-Ling CL; Elliott, Aaron M AM; Lu, Hsiao-Mei HM; Black, Mary Helen MH
Evaluating Cancer of the Central Nervous System Through Next-Generation Sequencing of Cerebrospinal Fluid.
Journal Of Clinical Oncology : Official Journal Of The American Society Of Clinical Oncology
Pentsova, Elena I EI; Shah, Ronak H RH; Tang, Jiabin J; Boire, Adrienne A; You, Daoqi D; Briggs, Samuel S; Omuro, Antonio A; Lin, Xuling X; Fleisher, Martin M; Grommes, Christian C; Panageas, Katherine S KS; Meng, Fanli F; Selcuklu, S Duygu SD; Ogilvie, Shahiba S; Distefano, Natalie N; Shagabayeva, Larisa L; Rosenblum, Marc M; DeAngelis, Lisa M LM; Viale, Agnes A; Mellinghoff, Ingo K IK; Berger, Michael F MF
Publication Date: 2016-07-10
Variant appearance in text: MSH2: 134C>T; A45V; rs63750285
The association between genetic variants in hMLH1 and hMSH2 and the development of sporadic colorectal cancer in the Danish population.
Bmc Medical Genetics
Christensen, Lise Lotte LL; Madsen, Bo E BE; Wikman, Friedrik P FP; Wiuf, Carsten C; Koed, Karen K; Tjønneland, Anne A; Olsen, Anja A; Syvänen, Ann-Christine AC; Andersen, Claus L CL; Orntoft, Torben F TF
Publication Date: 2008-06-11
Variant appearance in text: MSH2: 134C>T; Ala45Val