Ontology highlight
ABSTRACT:
SUBMITTER: Liu H
PROVIDER: S-EPMC5355807 | biostudies-literature | 2017 Mar
REPOSITORIES: biostudies-literature
Nature communications 20170313
Genome-wide association studies (GWAS) do not distinguish between single nucleotide polymorphisms (SNPs) that are causal and those that are merely in linkage-disequilibrium with causal mutations. Here we describe a versatile, functional pipeline and apply it to SNPs at 1p22, a locus identified in several GWAS for non-syndromic cleft lip with or without cleft palate (NS CL/P). First we amplified DNA elements containing the ten most-highly risk-associated SNPs and tested their enhancer activity in ...[more]