ArticleiScience2026
Distinct genetic variants from the whole-exome sequencing of syndromic anorectal malformations: A cross-sectional study.
Article in iScience, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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10 authors.
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Abstract
Anorectal malformations (ARMs) are congenital anomalies affecting the anus and rectum, with a global incidence of 1 in 5,000 live births. Despite clinical advancements, the genetic basis of ARMs remains largely unknown. Our study utilized whole-exome sequencing (WES) on ARM-diagnosed individuals to identify rare and potentially pathogenic variants. We prioritized 20 variants by using consensus variant pipeline for exome analyses (CONVEX) and the AION pipeline, followed by validation. Cross-referencing with existing genome-wide association study (GWAS) datasets identified two common variants,
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