Prioritizing de novo autism risk variants with calibrated gene- and variant-scoring models.

ABSTRACT: Whole-exome and whole-genome sequencing studies in autism spectrum disorder (ASD) have identified hundreds of thousands of exonic variants. Only a handful of them, primarily loss-of-function variants, have been shown to increase the risk for ASD, while the contributory roles of other variants, including most missense variants, remain unknown. New approaches that combine tissue-specific molecular profiles with patients' genetic data can thus play an important role in elucidating the functional impact of exonic variation and improve understanding of ASD pathogenesis. Here, we integrate spatio-temporal gene co-expression networks from the developing human brain and protein-protein interaction networks to first reach accurate prioritization of ASD risk genes based on their connectivity pattern

SUBMITTER: Jiang Y 

PROVIDER: S-EPMC8938308 | biostudies-literature | 2022 Oct

REPOSITORIES: biostudies-literature