Annotation of functional variation in personal genomes using RegulomeDB

Annotation of functional variation in personal genomes using RegulomeDB

2012 | Alan P. Boyle, Euree 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
RegulomeDB is a database developed to annotate functional variation in personal genomes by integrating regulatory information from various sources. It combines high-throughput experimental data from ENCODE and other sources with computational predictions and manual annotations to identify potential regulatory variants. The database scores variants to distinguish functional ones from non-functional ones and provides testable hypotheses about their function. It has been applied to annotate noncoding variants from 69 fully sequenced genomes and a personal genome, identifying thousands of functionally associated variants. The database also enables the identification of known functional variants in genome-wide association studies (GWAS) and provides hypotheses about their function. RegulomeDB includes data from ENCODE, chromatin state information, expression quantitative trait loci (eQTL), and other sources, allowing for the annotation of regulatory elements. It also incorporates computational predictions, such as DNase footprinting and potential binding motif alterations, to improve the annotation of regulatory variants. The database is publicly accessible and provides a tool for annotating variants in personal genomes. RegulomeDB has been shown to be effective in identifying regulatory variants and providing hypotheses about their function, making it a valuable resource for annotating human genome sequences.RegulomeDB is a database developed to annotate functional variation in personal genomes by integrating regulatory information from various sources. It combines high-throughput experimental data from ENCODE and other sources with computational predictions and manual annotations to identify potential regulatory variants. The database scores variants to distinguish functional ones from non-functional ones and provides testable hypotheses about their function. It has been applied to annotate noncoding variants from 69 fully sequenced genomes and a personal genome, identifying thousands of functionally associated variants. The database also enables the identification of known functional variants in genome-wide association studies (GWAS) and provides hypotheses about their function. RegulomeDB includes data from ENCODE, chromatin state information, expression quantitative trait loci (eQTL), and other sources, allowing for the annotation of regulatory elements. It also incorporates computational predictions, such as DNase footprinting and potential binding motif alterations, to improve the annotation of regulatory variants. The database is publicly accessible and provides a tool for annotating variants in personal genomes. RegulomeDB has been shown to be effective in identifying regulatory variants and providing hypotheses about their function, making it a valuable resource for annotating human genome sequences.
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