Progress in next-generation sequencing research of non-syndromic oral clefts / 中华流行病学杂志

Non-syndromic oral clefts (NSOC) are among the most common birth defects. The prevalence of NSOC is 1.13-1.30 per 1 000 live births in China, which is higher than those in other major ethnic groups. The etiology of NSOC is complex and heterogeneous, which involves both genetic and environmental risk factors. Although genome-wide association studies have identified a number of risk loci, these loci can only account for a small proportion of the heritability of NSOC. The next-generation sequencing research provides new ideas for further exploring the genetic risk factors of NSOC. This paper summaries the progress in the next-generation sequencing research of NSOC.