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: CDAN1: G187D; rs775237635

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

Reanalysing genomic data by normalized coverage values uncovers CNVs in bone marrow failure gene panels.

Npj Genomic Medicine

Lauhasurayotin, Supanun S; Cuvelier, Geoff D GD; Klaassen, Robert J RJ; Fernandez, Conrad V CV; Pastore, Yves D YD; Abish, Sharon S; Rayar, Meera M; Steele, MacGregor M; Jardine, Lawrence L; Breakey, Vicky R VR; Brossard, Josee J; Sinha, Roona R; Silva, Mariana M; Goodyear, Lisa L; Lipton, Jeffrey H JH; Michon, Bruno B; Corriveau-Bourque, Catherine C; Sung, Lillian L; Shabanova, Iren I; Li, Hongbing H; Zlateska, Bozana B; Dhanraj, Santhosh S; Cada, Michaela M; Scherer, Stephen W SW; Dror, Yigal Y

Publication Date: 2019

Variant appearance in text: CDAN1: 560G>A

PubMed Link: 31839986

Variant Present in the following documents:

• 41525_2019_Article_104.pdf

View BVdb publication page