PhenotypeToGeneDownloaderR: automated multi-source retrieval and validation of phenotype-associated genes

arXiv:2605.01378v1 Announce Type: new Abstract: Identifying phenotype-associated genes is a common first step in polygenic risk score construction, enrichment testing, target prioritisation and variant interpretation, but relevant evidence is distributed across heterogeneous databases with different interfaces, formats and evidence models. Here, we present PhenotypeToGeneDownloaderR, a phenotype-guided R/Python pipeline for automated gene retrieval, harmonisation, symbol validation and cross-sou...