Evaluating the impact of compound heterozygosity involving microdeletions and sequence-level variants: findings in autism
Worrawat Engchuan, Kara Han, Rayssa M.M.W. Feitosa, Nelson Bautista Salazar, David J. Mager, Shania Wu, Faraz Ali, Alex W.H. Chan, Marla Mendes de Aquino, Xiaopu Zhou, Rulan Shaath, Nickie Safarian, Bhooma Thiruvahindrapuram, Thomas Nalpathamkalam, Giovanna Pellecchia, , Jacob A. S. Vorstman
The paper evaluates the role of compound heterozygous deletion events in autism by analyzing 9,766 families and finds modest enrichment of rare DelCH events in autistic individuals.
medRxiv · Oct 17, 2025 · PreprintGenetic & Genomic Medicine