Article

Systematic benchmarking of 32 in silico tools for pathogenicity prediction of missense variants in genes associated with female infertility and differences in sex development

2026-05-30

Abstract excerpt

<title>Abstract</title> <bold>Background</bold> Accurate assessment of missense variant pathogenicity is critical for the genetic diagnosis and personalized reproductive management of female infertility and differences of sex development (DSD). However, most missense variants in associated genes remain classified as variants of uncertain significance (VUS). While many <italic>in silico</italic> prediction...

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Literature Corpus work: de05facf-79af-5aba-aca2-ce08a3adf785
DOI: 10.21203/rs.3.rs-9169974/v1

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