P110: Composite rare variant burden is associated with greater neurobehavioral symptoms in individuals with autism*

Genetics in Medicine Open 2026 Open access

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Authors: Lu Qiao, Jacob Hagen, Chao Hou, Xiaoqi Lin, Yufeng Shen, Wendy K. Chung, Pamela Feliciano
DOI: 10.1016/j.gimo.2026.103604
Cited by: 0

Abstract

Phenotypic heterogeneity is widely observed in autism. Identification of new genes in autism has largely relied on de novo variants, using methods based on proxies of selection strength. Recently, methods that directly estimate the selection coefficient (S) of both loss of function (LoF) and missense variants have been developed. The large SPARK cohort enables evaluation of both individual rare variants and rare variant composite scores (RVCS) in relation to autism susceptibility and phenotype.

Fields of Study & Subjects

Autism Spectrum Disorder Research Genetics and Neurodevelopmental Disorders Genomics and Rare Diseases

Publication details

Journal / source
Genetics in Medicine Open
Volume
4
Pages
103604–103604
Publication date
1 January 2026
Language
EN