Article

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

2026-05-06

Abstract excerpt

<h4>Motivation</h4> 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. <h4>Results</h4> We present PhenotypeToGeneDownloaderR, a phenotype-guided R/Python pipeline for auto...

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Literature Corpus work: d7ad279e-7a24-5dcf-8c93-0a5b6185f3ac
DOI: 10.64898/2026.05.02.721360

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