title: Genome-wide allele-specific analysis: insights into regulatory variation.
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.
authors.affiliation: 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
authors.forename: Tomi
authors.initials: T
authors.lastname: Pastinen
mesh_terms: D000483:Alleles; D002843:Chromatin / Q000235:genetics; D004194:Disease / Q000235:genetics; D055106:Genome-Wide Association Study / Q000639:trends*; D023281:Genomics / Q000639:trends; D006801:Humans; D020411:Oligonucleotide Array Sequence Analysis / Q000639:trends; D011110:Polymorphism, Genetic; D020641:Polymorphism, Single Nucleotide; D040641:Quantitative Trait Loci; D014018:Tissue Distribution; D015533:Transcriptional Activation
chemical_list: D002843:Chromatin