Data resources for human functional genomics
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- dc.contributor.author Ardlie, Kristin G.
- dc.contributor.author Guigó Serra, Roderic
- dc.date.accessioned 2019-04-01T07:35:32Z
- dc.date.available 2019-04-01T07:35:32Z
- dc.date.issued 2017
- dc.description.abstract Characterizing and interpreting the function of the millions of genetic variants in the human genome is a pressing need in medical and evolutionary genomics and is fundamental to understanding the molecular, cellular, and organismal consequences of genetic variation. Over recent years, several large-scale efforts have established genome-wide resources that describe and map multiple elements of genome function across many tissue and cell types. Additional population based studies have simultaneously mapped genome-wide regulatory variation across large numbers of individuals. We summarize these resources, review the data types they offer, and insights they provide into human functional variation. We also discuss the challenges and developments needed to integrate both existing and new resources into a detailed map of how genetic differences impact molecular phenotypes and ultimately human health.
- dc.format.mimetype application/pdf
- dc.identifier.citation Ardlie KG, Guigó R. Data resources for human functional genomics. Curr Opin Syst Biol. 2017; 1:75-79. DOI 10.1016/j.coisb.2016.12.019
- dc.identifier.doi http://dx.doi.org/10.1016/j.coisb.2016.12.019
- dc.identifier.issn 2452-3100
- dc.identifier.uri http://hdl.handle.net/10230/37013
- dc.language.iso eng
- dc.publisher Elsevier
- dc.relation.ispartof Curr Opin Syst Biol. 2017; 1:75-79
- dc.rights © Elsevier http://dx.doi.org/10.1016/j.coisb.2016.12.019
- dc.rights.accessRights info:eu-repo/semantics/openAccess
- dc.subject.keyword Functional genomics
- dc.subject.keyword Genetic variation
- dc.subject.keyword Gene regulation
- dc.subject.keyword QTL
- dc.title Data resources for human functional genomics
- dc.type info:eu-repo/semantics/article
- dc.type.version info:eu-repo/semantics/acceptedVersion