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: ALK: V757M; rs371005946
A targeted next-generation sequencing assay detects a high frequency of therapeutically targetable alterations in primary and metastatic breast cancers: implications for clinical practice.
The Oncologist
Vasan, Neil N; Yelensky, Roman R; Wang, Kai K; Moulder, Stacy S; Dzimitrowicz, Hannah H; Avritscher, Rony R; Wang, Baliang B; Wu, Yun Y; Cronin, Maureen T MT; Palmer, Gary G; Symmans, W Fraser WF; Miller, Vincent A VA; Stephens, Philip P; Pusztai, Lajos L