Identifying functional annotation for noncoding genomic sequences.

Department of Molecular Physiology & Biophysics, Vanderbilt University Medical Center, Nashville, Tennessee, USA.
Current protocols in human genetics / editorial board, Jonathan L. Haines ... [et al.] 01/2012; Chapter 1:Unit1.10. DOI: 10.1002/0471142905.hg0110s72
Source: PubMed

ABSTRACT The recent success of genome-wide association studies has generated a trove of biologically significant variants implicated in human disease. However, many, if not most, of these variants fall in noncoding regions that have traditionally lacked much functional annotation. New data sets and tools allow for a more detailed assessment of potential importance of noncoding genetic variants. An overview of types of regulatory annotation that are currently available, and approaches to analyzing this data are provided with emphasis on usage of the UCSC genome browser.

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