Co-occurrence of rare variants implicates gene pairs in cytoskeletal pathways and is associated with increased severity in autism spectrum disorder
This study employs large-scale, multi-ancestry genomic datasets to identify gene pairs affected by the co-occurrence of rare variants and assess their biological and clinical impact. Our findings highlight the significance of rare variants with modest effects in ASD and offer insights into the complex mechanisms underlying ASD.
Authors
- Yoojeong Lee (ORCID: https://orcid.org/0000-0002-7924-0247)
- A. Børglum
- Woong Sun (ORCID: https://orcid.org/0000-0003-1792-4894)
- Hyeji Lee
- Kahee Ko
- So Hyun Kim (ORCID: https://orcid.org/0000-0003-4269-0866)
- Jihae Lee (ORCID: https://orcid.org/0009-0000-1431-229X)
- G.Q. Lee
- Jiwoo An
- J. Grove
- Guiyoung Bong
- Jeewon Lee
- Eunjoon Kim
- Ye Rim Kim
- Soowhee Kim
- Jae Hyun Han
- Seoyeon Kim
- Da-Yea Song
- Hee Jeong Yoo
Institutions
- Seoul National University (KR)
- Korea Advanced Institute of Science and Technology (KR)
- Korea University (KR)
- Aarhus University (DK)
- Seoul National University Bundang Hospital (KR)
- Institute for Basic Science (KR)
- National University College (PR)
- Lundbeck Foundation (DK)
- Korea University (JP)
- Bucheon University (KR)
Publication Details
- Journal
- Genome biology
- Published
- 2026-03-23
- DOI
- https://doi.org/10.1186/s13059-026-04041-x
- Primary Topic
- Autism Spectrum Disorder Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00