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 nhgri-ebi gwas catalog: knowledgebase and deposition resource.Nucleic Acids Research, 51(D1):D977–D985, November 2022
1 Pith paper cite this work. Polarity classification is still indexing.
1
Pith paper citing it
fields
q-bio.GN 1years
2026 1verdicts
ACCEPT 1representative citing papers
citing papers explorer
-
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.