Study

Whole genome sequencing of ASD quartet families

Study ID Alternative Stable ID Type
EGAS00001001023 Other

Study Description

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.

Study Datasets 1 dataset.

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Dataset ID Description Technology Samples
EGAD00001001126
NA
340

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