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Evaluation of phenotype-driven gene prioritization methods for Mendelian diseases.

Briefings in bioinformatics - 20 Sept 2022

Jacobsen Julius O B, Kelly Catherine, Cipriani Valentina, Robinson Peter N, Smedley Damian

Abstract excerpt

Yuan et al. recently described an independent evaluation of several phenotype-driven gene prioritization methods for Mendelian disease on two separate, clinical datasets. Although they attempted to use default settings for each tool, we describe three key differences from those we currently recommend for our Exomiser and PhenIX tools. These influence how variant frequency, quality and predicted pathogenicity are...

Topics

Computational Biology
Genetic Diseases, Inborn
Humans
Phenotype

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 35595299
DOI: 10.1093/bib/bbac188
PMCID: PMC9487604

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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