Article

Frequency and complexity of de novo structural mutation in autism

2015-10-30

Abstract excerpt

Genetic studies of Autism Spectrum Disorder (ASD) have established that de novo duplications and deletions contribute to risk. However, ascertainment of structural variation (SV) has been restricted by the coarse resolution of current approaches. By applying a custom pipeline for SV discovery, genotyping and de novo assembly to genome sequencing of 235 subjects, 71 cases, 26 sibling controls and their parents, w...

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Literature Corpus work: d789eedd-ae5c-5cba-9057-bb9728d1002d
DOI: 10.1101/030270

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