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Whole genome sequencing of ASD quartet families

Autism spectrum disorder (ASD) is genetically heterogeneous with >100 susceptibility genes known. We used whole-genome sequencing (WGS) of 85 quartet families (two parents and two ASD-affected siblings) to comprehensively examine mutation characteristics. Our results emphasize using WGS to maximize the detection of all classes of mutations potentially involved in autism, and to enable the interpretation of that data in confirmatory and predictive diagnosis in different individuals in a family.

Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data

Dataset ID Description Technology Samples
EGAD00001001126 340
Publications Citations
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder.
Nat Neurosci 20: 2017 602-611
398
Variable phenotype expression in a family segregating microdeletions of the NRXN1 and MBD5 autism spectrum disorder susceptibility genes.
NPJ Genom Med 2: 2017 17
20
Mutations in <i>RAB39B</i> in individuals with intellectual disability, autism spectrum disorder, and macrocephaly.
Mol Autism 8: 2017 59
27