Article

Regulatory<i>de novo</i>mutations underlying intellectual disability

2022-11-17

Abstract excerpt

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. We sequenced 63 whole genomes from 21 ID probands and their unaffected parents (trio). Additionally, we analysed 30 previously sequenced genomes from exome-negative...

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Literature Corpus work: 3a2bca03-eb04-519c-9bad-4a322158fb07
DOI: 10.1101/2022.11.14.22279410

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