Article

Risk Beyond the Variant: A Composite Metric for Autism Gene Pathogenicity

2026-07-16

Abstract excerpt

Variant-based pathogenicity predictors such as REVEL evaluate missense variants in isolation, discarding the gene-length and allele-frequency context needed to compare collections of genes. In this paper, we introduce a composite gene-level metric integrating Hardy-Weinberg heterozygosity, coding-sequence length, and REVEL scores, evaluated on 55 high-confidence autism genes against the 1000 Genomes reference. It...

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Literature Corpus work: 0dc277fd-6246-5188-9690-ea6bc42b4acd
DOI: 10.20944/preprints202607.1252.v1

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