Publications:

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: TERT: G135R; rs200843534

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

Characterization of population-based variation and putative functional elements for the multiple-cancer susceptibility loci at 5p15.33.

F1000Research

Mirabello, Lisa L; Chung, Charles C CC; Yeager, Meredith M; Savage, Sharon A SA

Publication Date: 2014

Variant appearance in text: rs200843534

PubMed Link: 26664699

Variant Present in the following documents:

• Main text
• f1000research-3-5532.pdf

View BVdb publication page