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; ,
Accurate classification of BRCA1 variants with saturation genome editing.
Nature
Findlay, Gregory M GM; Daza, Riza M RM; Martin, Beth B; Zhang, Melissa D MD; Leith, Anh P AP; Gasperini, Molly M; Janizek, Joseph D JD; Huang, Xingfan X; Starita, Lea M LM; Shendure, Jay J
Publication Date: 2018-10
Variant appearance in text: BRCA1: 5430G>A; V1810=
Full-exon pyrosequencing screening of BRCA germline mutations in Mexican women with inherited breast and ovarian cancer.
Plos One
Vaca-Paniagua, Felipe F; Alvarez-Gomez, Rosa María RM; Fragoso-Ontiveros, Verónica V; Vidal-Millan, Silvia S; Herrera, Luis Alonso LA; Cantú, David D; Bargallo-Rocha, Enrique E; Mohar, Alejandro A; López-Camarillo, César C; Pérez-Plasencia, Carlos C