Article

Coding <i>de novo</i> mutations identified by WGS reveal novel orofacial cleft genes

2020-04-02

Abstract excerpt

While de novo mutations (DNMs) are known to increase risk of congenital defects, DNMs have not been fully explored regarding orofacial clefts (OFCs), one of the most common human birth defects. Therefore, whole-genome sequencing of 756 case-parent trios of European, Colombian, and Taiwanese ancestry was performed to determine the contributions of coding DNMs to OFC risk. Overall, we identified a significant exces...

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Literature Corpus work: 167af508-1366-5851-8ae9-31ead878861a
DOI: 10.1101/2020.04.01.019927

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