PhenotypeToGeneDownloaderR is a new automated pipeline that retrieves and validates phenotype-associated genes from 13 databases with 98.4% recall against a gold standard and 87.6% symbol validation success.
Omim.org: leveraging knowledge across phenotype–gene relationships.Nucleic Acids Research, 47(D1):D1038–D1043, November 2018
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PhenotypeToGeneDownloaderR: automated multi-source retrieval and validation of phenotype-associated genes
PhenotypeToGeneDownloaderR is a new automated pipeline that retrieves and validates phenotype-associated genes from 13 databases with 98.4% recall against a gold standard and 87.6% symbol validation success.