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: LDLR: L401F; rs146200173
Meta-analysis of gene-level tests for rare variant association.
Nature Genetics
Liu, Dajiang J DJ; Peloso, Gina M GM; Zhan, Xiaowei X; Holmen, Oddgeir L OL; Zawistowski, Matthew M; Feng, Shuang S; Nikpay, Majid M; Auer, Paul L PL; Goel, Anuj A; Zhang, He H; Peters, Ulrike U; Farrall, Martin M; Orho-Melander, Marju M; Kooperberg, Charles C; McPherson, Ruth R; Watkins, Hugh H; Willer, Cristen J CJ; Hveem, Kristian K; Melander, Olle O; Kathiresan, Sekar S; Abecasis, Gonçalo R GR