Analysis of sequence data to identify potential risk variants for oral clefts in multiplex families.

ABSTRACT:

Background

Nonsyndromic oral clefts are craniofacial malformations, which include cleft lip with or without cleft palate. The etiology for oral clefts is complex with both genetic and environmental factors contributing to risk. Previous genome-wide association (GWAS) studies have identified multiple loci with small effects; however, many causal variants remain elusive.

Methods

In this study, we address this by specifically looking for rare, potentially damaging variants in family-based data. We analyzed both whole exome sequence (WES) data and whole genome sequence (WGS) data in multiplex cleft families to identify variants shared by affected individuals.

Results

Here we present the results from these analyses. Our most interesting finding was from a single Syrian fam

SUBMITTER: Holzinger ER 

PROVIDER: S-EPMC5606860 | biostudies-literature | 2017 Sep

REPOSITORIES: biostudies-literature