Work

Trajectory of exonic variant discovery in a large clinical population: implications for variant curation

Year: 2018

Type: article

Study design: Observational Study

Source: Genetics in Medicine

DOI: 10.1038/s41436-018-0353-5

Authors: Uyenlinh L. Mirshahi, Jonathan Z. Luo, Kandamurugu Manickam, Amr H. Wardeh, Tooraj Mirshahi, Michael F. Murray, David J. Carey

Institution: Geisinger Health System

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: Regeneron Pharmaceuticals

OpenAlex ID: W2901678158

FWCI: 1.224

Cites: 22

Cited by: 11

Related to: 10