A method for scoring the cell type-specific impacts of noncoding variants in personal genomes.

ABSTRACT: A person's genome typically contains millions of variants which represent the differences between this personal genome and the reference human genome. The interpretation of these variants, i.e., the assessment of their potential impact on a person's phenotype, is currently of great interest in human genetics and medicine. We have developed a prioritization tool called OpenCausal which takes as inputs 1) a personal genome and 2) a reference context-specific TF expression profile and returns a list of noncoding variants prioritized according to their impact on chromatin accessibility for any given genomic region of interest. We applied OpenCausal to 6,430 samples across 18 tissues derived from the GTEx project and found that the variants prioritized by OpenCausal are highly enriched for eQTL

SUBMITTER: Li W 

PROVIDER: S-EPMC7474608 | biostudies-literature | 2020 Sep

REPOSITORIES: biostudies-literature