Leveraging biobank-scale rare and common variant analyses to identify ASPHD1 as the main driver of reproductive traits in the 16p11.2 locus

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This study identifies a gene called ASPHD1 within the proximal 16p11.2 region as a key driver of reproductive development timing (such as onset of puberty) in both males and females, which may help families understand why their children with 16p11.2 deletions or duplications might experience differences in puberty and reproductive health.