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Article

Co-occurrence of rare variants implicates gene pairs in cytoskeletal pathways and is associated with increased severity in autism spectrum disorder.

Genome biology - 23 Mar 2026

Lee Hyeji, Ko Kahee, Kim Seoyeon, Lee Ganghee, Kim Soowhee, Lee Jihae, Song Da-Yea, Bong Guiyoung, Han Jae Hyun, Lee Jeewon, Kim Ye Rim, Lee Yoojeong, Kim Eunjoon, Børglum Anders D, Grove Jakob, Kim So Hyun, Sun Woong, Yoo Hee Jeong, An Joon-Yong

Abstract excerpt

BACKGROUND: The genetic basis of autism spectrum disorder (ASD) is complicated by high heritability and substantial heterogeneity, in which de novo variants and polygenic burden from common variants have not been comprehensively elucidated. Increasing evidence indicates that aggregates of rare variants can exert additive or synergistic effects that modulate disease risk. Using an approach that considers variant...

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Identifiers

PMID: 41872878
DOI: 10.1186/s13059-026-04041-x
PMCID: PMC13134247

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

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