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Chunk #27 — Discussion

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Annotation of functional variation in personal genomes using RegulomeDB.
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While our examples deal with single nucleotide variants only, the database can also be used to annotate insertions and deletions. Using the online resource, these data would be inserted in the same manner as SNVs and are not distinguished as being of a different category. However, because the database is searched for a feature that overlaps the region that contains the insertion or deletion, the same information will be returned as to potential binding sites being disrupted by the insertion/deletion. Integration of all types of variants (SNVs, Indels, and SVs) with all types of noncoding and coding variants will provide detailed functional interpretation of personal and nonpersonal genomes.