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Article

Sex-aware genome-wide assessment of de novo variants in autism across coding and noncoding regions.

Human genomics - 24 Apr 2026

Turner Tychele N

Abstract excerpt

BACKGROUND: Autism spectrum disorder (ASD) shows a consistent sex bias, yet how sex shapes de novo variant (DNV) risk across coding and noncoding sequence remains unclear. I analyzed DNVs in > 41,000 parent–child sequenced trios from three ASD family-based cohorts and compared DNV characteristics and enrichment patterns in males and females. Notably, these trios included individuals with ASD as well as those...

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Source

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Identifiers

PMID: 42032772
DOI: 10.1186/s40246-026-00961-8
PMCID: PMC13248286

Genes

MECP2
ADNP
AUTS2
DDX3X
EML6
FOXP1
FREM3
GABBR2
IGSF23
NHSL1
OTOG
PIEZO1
SMAD6
TAOK1
ZNF84

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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