Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.
American Journal Of Human Genetics
Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,
Publication Date: 2022-12-01
Variant appearance in text: MSH6: S1329L; rs199594809
Prevalence of germline pathogenic variants in 22 cancer susceptibility genes in Swedish pediatric cancer patients.
Scientific Reports
von Stedingk, Kristoffer K; Stjernfelt, Karl-Johan KJ; Kvist, Anders A; Wahlström, Cecilia C; Kristoffersson, Ulf U; Stenmark-Askmalm, Marie M; Wiebe, Thomas T; Hjorth, Lars L; Koster, Jan J; Olsson, Håkan H; Øra, Ingrid I
Publication Date: 2021-03-05
Variant appearance in text: MSH6: 3986C>T; Ser1329Leu; rs199594809
Lynch Syndrome Germline Mutations in Breast Cancer: Next Generation Sequencing Case-Control Study of 1,263 Participants.
Frontiers In Oncology
Nikitin, Aleksey G AG; Chudakova, Daria A DA; Enikeev, Rafael F RF; Sakaeva, Dina D; Druzhkov, Maxim M; Shigapova, Leyla H LH; Brovkina, Olga I OI; Shagimardanova, Elena I EI; Gusev, Oleg A OA; Gordiev, Marat G MG
Two integrated and highly predictive functional analysis-based procedures for the classification of MSH6 variants in Lynch syndrome.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Drost, Mark M; Tiersma, Yvonne Y; Glubb, Dylan D; Kathe, Scott S; van Hees, Sandrine S; Calléja, Fabienne F; Zonneveld, José B M JBM; Boucher, Kenneth M KM; Ramlal, Renuka P E RPE; Thompson, Bryony A BA; Rasmussen, Lene Juel LJ; Greenblatt, Marc S MS; Lee, Andrea A; Spurdle, Amanda B AB; Tavtigian, Sean V SV; de Wind, Niels N
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
VarDict: a novel and versatile variant caller for next-generation sequencing in cancer research.
Nucleic Acids Research
Lai, Zhongwu Z; Markovets, Aleksandra A; Ahdesmaki, Miika M; Chapman, Brad B; Hofmann, Oliver O; McEwen, Robert R; Johnson, Justin J; Dougherty, Brian B; Barrett, J Carl JC; Dry, Jonathan R JR
Publication Date: 2016-06-20
Variant appearance in text: MSH6: 3986C>T; S1329L; rs199594809