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Chunk #22 — Results — Querying the database

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Annotation of functional variation in personal genomes using RegulomeDB.
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Access to the database and scoring method is publically available via a web interface at http://RegulomeDB.org/. The integrated database is fully searchable using common variant formats (VCF, BED, GFF3, rsIDs) and through file upload of the same formats (Supplemental Fig. S2A). In addition, a user may input broad regions of interest which are converted to variants using dbSNP132 variants at >1% allele frequency. The initial results table provides a list of the coordinates of the variants, a dbSNP rsID (if it exists), a score assigned by our method, and links to external resources for each variant (Supplemental Fig. S2B). The list is sorted by our classification scheme, with the SNVs most likely to be functional listed first. This list of SNVs is also downloadable by the user for their own analysis.