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

Abstract excerpt

Background: 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. Methods: We introduce a composite gene-level metric integrating Hardy-Weinberg heterozygosity, coding-sequence length, and REVEL scores. The metric returns a single value per gene expressing variant burden per unit...

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