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Träfflista för sökning "WFRF:(Bourque Guillaume) ;pers:(Caron Maxime)"

Search: WFRF:(Bourque Guillaume) > Caron Maxime

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1.
  • Dyke, Stephanie O M, et al. (author)
  • Epigenome data release : a participant-centered approach to privacy protection
  • 2015
  • In: Genome Biology. - : Springer Science and Business Media LLC. - 1465-6906 .- 1474-760X. ; 16
  • Journal article (peer-reviewed)abstract
    • Large-scale epigenome mapping by the NIH Roadmap Epigenomics Project, the ENCODE Consortium and the International Human Epigenome Consortium (IHEC) produces genome-wide DNA methylation data at one base-pair resolution. We examine how such data can be made open-access while balancing appropriate interpretation and genomic privacy. We propose guidelines for data release that both reduce ambiguity in the interpretation of open-access data and limit immediate access to genetic variation data that are made available through controlled access.
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2.
  • Morin, Andreanne, et al. (author)
  • Immunoseq : the identification of functionally relevant variants through targeted capture and sequencing of active regulatory regions in human immune cells
  • 2016
  • In: BMC Medical Genomics. - : Springer Science and Business Media LLC. - 1755-8794. ; 9
  • Journal article (peer-reviewed)abstract
    • Background: The observation that the genetic variants identified in genome-wide association studies (GWAS) frequently lie in non-coding regions of the genome that contain cis-regulatory elements suggests that altered gene expression underlies the development of many complex traits. In order to efficiently make a comprehensive assessment of the impact of non-coding genetic variation in immune related diseases we emulated the whole-exome sequencing paradigm and developed a custom capture panel for the known DNase I hypersensitive site (DHS) in immune cells - "Immunoseq". Results: We performed Immunoseq in 30 healthy individuals where we had existing transcriptome data from T cells. We identified a large number of novel non-coding variants in these samples. Relying on allele specific expression measurements, we also showed that our selected capture regions are enriched for functional variants that have an impact on differential allelic gene expression. The results from a replication set with 180 samples confirmed our observations. Conclusions: We show that Immunoseq is a powerful approach to detect novel rare variants in regulatory regions. We also demonstrate that these novel variants have a potential functional role in immune cells.
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