Functional variation in allelic methylomes underscores a strong genetic contribution and reveals novel epigenetic alterations in the human epigenome.

doi:10.1186/s13059-017-1173-7

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Functional variation in allelic methylomes underscores a strong genetic contribution and reveals novel epigenetic alterations in the human epigenome.

Genome biology - 10 Mar 2017

Cheung Warren A, Shao Xiaojian, Morin Andréanne, Siroux Valérie, Kwan Tony, Ge Bing, Aïssi Dylan, Chen Lu, Vasquez Louella, Allum Fiona, Guénard Frédéric, Bouzigon Emmanuelle, Simon Marie-Michelle, Boulier Elodie, Redensek Adriana, Watt Stephen, Datta Avik, Clarke Laura, Flicek Paul, Mead Daniel, Paul Dirk S, Beck Stephan, Bourque Guillaume, Lathrop Mark, Tchernof André, Vohl Marie-Claude, Demenais Florence, Pin Isabelle, Downes Kate, Stunnenberg Hendrick G, Soranzo Nicole, Pastinen Tomi, Grundberg Elin

Abstract excerpt

BACKGROUND: The functional impact of genetic variation has been extensively surveyed, revealing that genetic changes correlated to phenotypes lie mostly in non-coding genomic regions. Studies have linked allele-specific genetic changes to gene expression, DNA methylation, and histone marks but these investigations have only been carried out in a limited set of samples. RESULTS: We describe a large-scale...

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PMID: 28283040
DOI: 10.1186/s13059-017-1173-7
PMCID: PMC5346261

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