Article

<i>De novo</i> variants in population constrained fetal brain enhancers and intellectual disability

2019-04-28

Abstract excerpt

<h4>Purpose</h4> The genetic aetiology of a major fraction of patients with intellectual disability (ID) remains unknown. De novo mutations (DNMs) in protein-coding genes explain up to 40% of cases, but the potential role of regulatory DNMs is still poorly understood. <h4>Methods</h4> We sequenced 70 whole genomes from 24 ID probands and their unaffected parents and analyzed 30 previously sequenced genomes fro...

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Literature Corpus work: ee6151df-95e3-524a-9dcb-59574a360855
DOI: 10.1101/621029

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