Publications by authors named "Angelika Biedermann"
Article Synopsis
- Genome-wide association studies (GWAS) have provided significant insights into the genetic causes of orofacial clefting (OFC), but challenges arise due to the moderate effect sizes of noncoding risk variants and difficulty in accessing relevant tissues.
- An alternative method to understand the genetic mechanisms is to identify rare variants with stronger effects by focusing on specific mutations and analyzing genomic regions associated with OFC.
- The study reports a targeted resequencing approach using a multiethnic population to identify likely harmful rare variants in candidate regulatory regions linked to nonsyndromic cleft lip/palate, offering a scalable framework for exploring other congenital conditions.
