Article

Whole genome analysis of rare deleterious variants adds further evidence to BRSK2 and other risk genes in Autism Spectrum Disorder

2023-10-28

Abstract excerpt

<title>Abstract</title> <p>Autism spectrum disorder (ASD) is a complex neurodevelopmental condition with a strong genetic component in which rare variants contribute significantly to risk. We have performed whole genome and/or exome sequencing (WGS and WES) and SNP-array analysis to identify both rare sequence and copy number variants (SNVs and CNVs) in 435 individuals from 116 ASD families. We identified 37 rare...

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Literature Corpus work: 67bd4b3c-f32d-5252-bff2-9f7aef30392c
DOI: 10.21203/rs.3.rs-3468592/v1

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