Analysis of recent shared ancestry in a familial cohort identifies coding and noncoding autism spectrum disorder variants

IO Tuncay, NL Parmalee, R Khalil, K Kaur… - npj Genomic …, 2022 - nature.com
Autism spectrum disorder (ASD) is a collection of neurodevelopmental disorders
characterized by deficits in social communication and restricted, repetitive patterns of
behavior or interests. ASD is highly heritable, but genetically and phenotypically
heterogeneous, reducing the power to identify causative genes. We performed whole
genome sequencing (WGS) in an ASD cohort of 68 individuals from 22 families enriched for
recent shared ancestry. We identified an average of 3.07 million variants per genome, of …

[引用][C] Analysis of recent shared ancestry in a familial cohort identifies coding and noncoding autism spectrum disorder variants. NPJ Genom Med 7, 13

IO Tuncay, NL Parmalee, R Khalil, K Kaur, A Kumar… - 2022
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