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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. tomi.pastinen@mcgill.ca


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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