Whole genome sequencing of orofacial cleft trios from the Gabriella Miller Kids First Pediatric Research Consortium identifies a new locus on chromosome 21.

Hum Genet · 2020 · PMC6981325 · PMID 31848685

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nominally significantno p-value reported

We also carried out rare variant TDTs of intronic and intergenic variants with similar results, finding only nominally significant associations attributable to intergenic, low-frequency variants (MAFs ranging between 0.5 and 1%).

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