Work

Informing variant assessment using structured evidence from prior classifications (PS1, PM5, and PVS1 sequence variant interpretation criteria)

Year: 2022

Type: article

Source: Genetics in Medicine

DOI: 10.1016/j.gim.2022.09.009

Authors: Vineel Bhat, Ivan A. Adzhubei, James D. Fife, Matthew Lebo, Christopher A. Cassa

Institutions: Brigham and Women's Hospital, Harvard University, Mass General Brigham

Language: English

Topic: Genomics and Rare Diseases

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: bronze

Funder: National Human Genome Research Institute

Award: G1356288539

OpenAlex ID: W4307499336

FWCI: 0.673

Cites: 26

Cited by: 7

Related to: 10