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Article

Genome-wide prediction of dominant and recessive neurodevelopmental disorder-associated genes.

American journal of human genetics - 6 Mar 2025

Dhindsa Ryan S, Weido Blake A, Dhindsa Justin S, Shetty Arya J, Sands Chloe F, Petrovski Slavé, Vitsios Dimitrios, Zoghbi Anthony W

Abstract excerpt

Despite great progress, thousands of neurodevelopmental disorder (NDD) risk genes remain to be discovered. We present a computational approach that accelerates NDD risk gene identification using machine learning. First, we demonstrate that models trained solely on single-cell RNA sequencing data can robustly predict genes implicated in autism spectrum disorder (ASD), developmental and epileptic encephalopathy...

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Identifiers

PMID: 40015282
DOI: 10.1016/j.ajhg.2025.02.001
PMCID: PMC11947176

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