Work

AVADA: toward automated pathogenic variant evidence retrieval directly from the full-text literature

Year: 2019

Type: article

Source: Genetics in Medicine

DOI: 10.1038/s41436-019-0643-6

Authors: Johannes Birgmeier, Cole A. Deisseroth, Laura E. Hayward, Luisa M.T. Galhardo, Andrew P. Tierno, Karthik A. Jagadeesh, Peter D. Stenson, David N. Cooper, Jonathan A. Bernstein, Maximilian Haeussler, Gill Bejerano

Institutions: Stanford University, Stanford Medicine, Cardiff University, University of California, Santa Cruz

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, EMBO, National Institutes of Health, Defense Advanced Research Projects Agency, National Human Genome Research Institute

Awards: G2399192952, The UCSC Genome Browser, G4612446324, Deciphering Developmental Disorders

OpenAlex ID: W2970630160

FWCI: 2.863

Cites: 38

Cited by: 30

Related to: 10