Annotation of functional variation in personal genomes using RegulomeDB

• DOI: 10.1101/gr.137323.112
• Publication Date: 2012-09-05T17:19:51Z
• Authors: Alan P. Boyle; Eurie L. Hong; Manoj Hariharan; Yong Cheng; Marc A. Schaub; Maya Kasowski; Konrad J. Karczewski; Julie Park; Benjamin C. Hitz; Shuai Weng; J. Michael Cherry; Michael Snyder
• Keywords: ENCODE; Genome-wide Association Study; Nonsynonymous substitution; 1000 Genomes Project

As the sequencing of healthy and disease genomes becomes more commonplace, detailed annotation provides interpretation for individual variation responsible normal phenotypes. Current approaches focus on direct changes in protein coding genes, particularly nonsynonymous mutations that directly affect gene product. However, most occurs outside genes and, indeed, markers generated from genome-wide association studies (GWAS) identify variants segments. Identification potential regulatory perturb these sites will lead to a better localization truly functional their effects. We have developed novel approach database, RegulomeDB, which guides human genome. RegulomeDB includes high-throughput, experimental data sets ENCODE other sources, as well computational predictions manual annotations putative variants. These sources are combined into powerful tool scores help separate large pool small set with testable hypotheses function. demonstrate applicability this noncoding 69 full sequenced personal genome, where thousands functionally associated were identified. Moreover, we GWAS database is able quickly known variant provide hypothesis its Overall, expect resource be valuable genome sequences.