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.
The human phenotype ontology in 2021.Nucleic Acids Research, 49(D1):D1207–D1217, December 2020
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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.