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: NOTCH1: R365H; rs775991013
Comprehensive next-generation profiling of clonal hematopoiesis in cancer patients using paired tumor-blood sequencing for guiding personalized therapies.
Discovery of biomarkers predictive of GSI response in triple-negative breast cancer and adenoid cystic carcinoma.
Cancer Discovery
Stoeck, Alexander A; Lejnine, Serguei S; Truong, Andrew A; Pan, Li L; Wang, Hongfang H; Zang, Chongzhi C; Yuan, Jing J; Ware, Chris C; MacLean, John J; Garrett-Engele, Philip W PW; Kluk, Michael M; Laskey, Jason J; Haines, Brian B BB; Moskaluk, Christopher C; Zawel, Leigh L; Fawell, Stephen S; Gilliland, Gary G; Zhang, Theresa T; Kremer, Brandon E BE; Knoechel, Birgit B; Bernstein, Bradley E BE; Pear, Warren S WS; Liu, X Shirley XS; Aster, Jon C JC; Sathyanarayanan, Sriram S