Work

Phrank measures phenotype sets similarity to greatly improve Mendelian diagnostic disease prioritization

Year: 2018

Type: article

Source: Genetics in Medicine

DOI: 10.1038/s41436-018-0072-y

Authors: Karthik A. Jagadeesh, Johannes Birgmeier, Harendra Guturu, Cole A. Deisseroth, Aaron M. Wenger, Jonathan A. Bernstein, Gill Bejerano

Institutions: Stanford University, Stanford Medicine

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

Funders: Wellcome Trust, National Institute for Health and Care Research, Defense Advanced Research Projects Agency, Center for Computational, Evolutionary and Human Genomics, Stanford University

Awards: G1851182329, G3812932128, G4612446324, G5156498299, G8881768140

OpenAlex ID: W2951752341

FWCI: 2.299

Cites: 44

Cited by: 56

Related to: 10