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The ENCODE Project publishes new genomic insights in special issue of Genome Research
Date:9/5/2012

ation yet is presented by analyzing regulatory regions marked by DNase I hypersensitivity, an experimental property that indicates gene activity, and the whole-genome sequences of 53 people. The authors found that individuals are more likely to have functionally relevant variants in regulatory regions of DNA compared to protein-coding regions and provide further insights into patterns of regulatory variation at the individual and population levels.

The second study, by Boyle et al., utilized RegulomeDB, a database of ENCODE regulatory data among other sources, to analyze 69 whole-genome sequences and "score" genetic variants to isolate those that may be functionally important. The team identified thousands of potentially functional regulatory variants and estimate that the human genome harbors as much, if not more variation in regulatory regions and than protein-coding DNA. The authors expect this resource to facilitate the annotation of human genome sequences.

References:

  • Vernot et al., Personal and population genomics of human regulatory variation. Genome Res doi: 10.1101/gr.134890.111
  • Boyle et al., Annotation of functional variation in personal genomes using RegulomeDB. Genome Res doi: 10.1101/gr.137323.112


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Contact: Peggy Calicchia
calicchi@cshl.edu
516-422-4012
Cold Spring Harbor Laboratory
Source:Eurekalert

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