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Article

A framework to infer de novo exonic variants when parental genotypes are missing enhances association studies of autism.

Bioinformatics (Oxford, England) - 3 May 2026

Moon Haeun, Sloofman Laura, Avila Marina Natividad, Klei Lambertus, Devlin Bernie, Buxbaum Joseph D, Roeder Kathryn

Abstract excerpt

MOTIVATION: Gene-damaging mutations are highly informative for studies seeking to discover genes underlying developmental disorders. Traditionally, these de novo variants are recognized by evaluating high-quality DNA sequence from affected offspring and parents. However, when parental sequence is unavailable, methods are required to infer de novo status and use this inference for association studies. RESULTS: We...

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PMID: 42082430
DOI: 10.1093/bioinformatics/btag177
PMCID: PMC13151883

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