Article

Pangenome discovery of missing autism variants

2025-07-22

Abstract excerpt

<h4>ABSTRACT</h4> Autism spectrum disorders (ASDs) are genetically and phenotypically heterogeneous and the majority of cases still remain genetically unresolved. To better understand large-effect pathogenic variation, we generated long-read sequencing data to construct phased and near-complete genome assemblies (average contig N50=43 Mbp, QV=56) for 189 individuals from 51 families with unsolved cases of autism....

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Literature Corpus work: 4cbba28f-1d71-5564-b629-c9395382aaac
DOI: 10.1101/2025.07.21.25331932

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