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Nat Rev Genet. 2010 Aug;11(8):533-8. doi: 10.1038/nrg2815. Epub 2010 Jun 22.

Genome-wide allele-specific analysis: insights into regulatory variation.

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Department of Human Genetics, McGill University and Génome Québec Innovation Centre, 740 Dr. Penfield Avenue, Room 6202, Montréal, Québec, Canada, H3A 1A4.


Functional genomics is rapidly progressing towards the elucidation of elements that are crucial for the cis-regulatory control of gene expression, and population-based studies of disease and gene expression traits are yielding widespread evidence of the influence of non-coding variants on trait variance. Recently, genome-wide allele-specific approaches that harness high-throughput sequencing technology have started to allow direct evaluation of how these cis-regulatory polymorphisms control gene expression and affect chromatin states. The emerging data is providing exciting opportunities for comprehensive characterization of the allele-specific events that govern human gene regulation.

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