Work

eP354: A systematic approach for applying disease-specific phenotype in clinical variant interpretation

Year: 2022

Type: article

Source: Genetics in Medicine

DOI: 10.1016/j.gim.2022.01.389

Authors: Emily Groopman, Jennifer Goldstein, Shannon McNulty, Justyne Ross, Kelsea Chang, Steven Harrison, Jonathan Berg

Institutions: Broad Institute, Boston Children's Hospital, University of North Carolina at Chapel Hill, Ambry Genetics (United States)

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

OpenAlex ID: W4220812331

FWCI:

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