Annotation of functional variation in personal genomes using RegulomeDB

Annotation of functional variation in personal genomes using RegulomeDB

2012 | 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, and Michael Snyder
The article introduces RegulomeDB, a comprehensive database and integrated platform designed to annotate functional variations in personal genomes. The database combines high-throughput experimental data from ENCODE and other sources with computational predictions and manual annotations to identify regulatory potential and functional variants. This approach helps in the interpretation of noncoding variants, which account for a significant portion of genome-wide association studies (GWAS) results. The authors demonstrate the utility of RegulomeDB by analyzing 69 fully sequenced genomes and a personal genome, identifying thousands of functionally associated variants. They also show that the database can quickly identify known functional variants in GWAS studies, providing testable hypotheses about their effects. The scoring system in RegulomeDB helps prioritize variants based on their functional confidence, making it a valuable tool for interpreting genomic sequences and understanding the genetic basis of human diseases.The article introduces RegulomeDB, a comprehensive database and integrated platform designed to annotate functional variations in personal genomes. The database combines high-throughput experimental data from ENCODE and other sources with computational predictions and manual annotations to identify regulatory potential and functional variants. This approach helps in the interpretation of noncoding variants, which account for a significant portion of genome-wide association studies (GWAS) results. The authors demonstrate the utility of RegulomeDB by analyzing 69 fully sequenced genomes and a personal genome, identifying thousands of functionally associated variants. They also show that the database can quickly identify known functional variants in GWAS studies, providing testable hypotheses about their effects. The scoring system in RegulomeDB helps prioritize variants based on their functional confidence, making it a valuable tool for interpreting genomic sequences and understanding the genetic basis of human diseases.
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