P187: Haploinsufficiency, variant class, and phenotypic severity in autism: Insights from the SPARK cohort

Genetics in Medicine Open 2026 Open access

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Authors: Sarah D. Barns, Lu Qiao, Jessica Wright, Yufeng Shen, Pamela Feliciano, Wendy K. Chung
DOI: 10.1016/j.gimo.2026.103681
Cited by: 0

Abstract

SPARK (Simons Foundation Powering Autism Research for Knowledge) is the largest recontactable research cohort of individuals with autism and their family members, with over 50,000 individuals with autism with genomic data and 4,013 individuals with likely pathogenic/pathogenic (LP/P) autism-related variants in more than 478 single genes and dozens of unique CNV loci across the genome. Given the rarity of monogenic neurodevelopmental conditions, it is challenging to understand the entire spectrum of genotype - phenotype relationships, but the large scale of the SPARK cohort offers an opportunity to fill some gaps.

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
103681–103681
Publication date
1 January 2026
Language
EN