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Updated: Jun 12, 2026

An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations
Published on: November 3, 2010
Genome-wide allele-specific analysis: insights into regulatory variation
1Department 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
Abstract:
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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