A comparison of two workflows for regulome and transcriptome-based prioritization of genetic variants associated with myocardial mass.

ABSTRACT: A typical task arising from main effect analyses in a Genome Wide Association Study (GWAS) is to identify single nucleotide polymorphisms (SNPs), in linkage disequilibrium with the observed signals, that are likely causal variants and the affected genes. The affected genes may not be those closest to associating SNPs. Functional genomics data from relevant tissues are believed to be helpful in selecting likely causal SNPs and interpreting implicated biological mechanisms, ultimately facilitating prevention and treatment in the case of a disease trait. These data are typically used post GWAS analyses to fine-map the statistically significant signals identified agnostically by testing all SNPs and applying a multiple testing correction. The number of tested SNPs is typically in the millions,

SUBMITTER: Manduchi E 

PROVIDER: S-EPMC6687530 | biostudies-literature | 2019 Sep

REPOSITORIES: biostudies-literature