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Study finds genomic properties for the detection of rSNPs

A survey of genomic properties for the detection of regulatory polymorphisms.
Computational techniques are used in biology to prioritize DNA polymorphisms (e.g., SNPs) that may be responsible for population diversity, species-specific traits and many human diseases.  Predominantly, the focus has been the class of SNPs that alter protein function through changes to amino acid sequence.  However, polymorphisms that alter gene expression/regulation may be equally important.  Study of these polymorphisms is challenged though by the lack of knowledge regarding gene regulation and the shortage of characterized regulatory polymorphisms.  Our work attempts to address this issue by assembling a collection of regulatory polymorphisms from the existing literature (www.oreganno.org) and using this collection to investigate and prioritize various genomic properties that may be important for identifying novel regulatory polymorphisms.

Full citation

Montgomery SB, Griffith OL, Schuetz JM, Brooks-Wilson A, Jones SJ.
  A survey of genomic properties for the detection of regulatory polymorphisms.  PLoS Comput Biol. 2007 June.

Further details of this publication can be found online at:

http://dx.doi.org/10.1371/journal.pcbi.0030106

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Page last modified Sep 09, 2008