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Article: Exploring the function of genetic variants in the non-coding genomic regions: approaches for identifying human regulatory variants affecting gene expression

TitleExploring the function of genetic variants in the non-coding genomic regions: approaches for identifying human regulatory variants affecting gene expression
Authors
Issue Date2015
Citation
Briefings in Bioinformatics, 2015, v. 16 n. 3, p. 393-412 How to Cite?
AbstractUnderstanding the genetic basis of human traits/diseases and the underlying mechanisms of how these traits/diseases are affected by genetic variations is critical for public health. Current genome-wide functional genomics data uncovered a large number of functional elements in the noncoding regions of human genome, providing new opportunities to study regulatory variants (RVs). RVs play important roles in transcription factor bindings, chromatin states and epigenetic modifications. Here, we systematically review an array of methods currently used to map RVs as well as the computational approaches in annotating and interpreting their regulatory effects, with emphasis on regulatory single-nucleotide polymorphism. We also briefly introduce experimental methods to validate these functional RVs.
Persistent Identifierhttp://hdl.handle.net/10722/198458
ISSN
2015 Impact Factor: 8.399
2015 SCImago Journal Rankings: 4.086
ISI Accession Number ID

 

DC FieldValueLanguage
dc.contributor.authorLI, Jen_US
dc.contributor.authorYan, Ben_US
dc.contributor.authorSham, PCen_US
dc.contributor.authorWang, JJen_US
dc.date.accessioned2014-07-07T07:00:30Z-
dc.date.available2014-07-07T07:00:30Z-
dc.date.issued2015en_US
dc.identifier.citationBriefings in Bioinformatics, 2015, v. 16 n. 3, p. 393-412en_US
dc.identifier.issn1467-5463-
dc.identifier.urihttp://hdl.handle.net/10722/198458-
dc.description.abstractUnderstanding the genetic basis of human traits/diseases and the underlying mechanisms of how these traits/diseases are affected by genetic variations is critical for public health. Current genome-wide functional genomics data uncovered a large number of functional elements in the noncoding regions of human genome, providing new opportunities to study regulatory variants (RVs). RVs play important roles in transcription factor bindings, chromatin states and epigenetic modifications. Here, we systematically review an array of methods currently used to map RVs as well as the computational approaches in annotating and interpreting their regulatory effects, with emphasis on regulatory single-nucleotide polymorphism. We also briefly introduce experimental methods to validate these functional RVs.-
dc.languageengen_US
dc.relation.ispartofBriefings in Bioinformaticsen_US
dc.titleExploring the function of genetic variants in the non-coding genomic regions: approaches for identifying human regulatory variants affecting gene expressionen_US
dc.typeArticleen_US
dc.identifier.emailSham, PC: pcsham@hku.hken_US
dc.identifier.emailWang, JJ: junwen@hku.hken_US
dc.identifier.authoritySham, PC=rp00459en_US
dc.identifier.authorityWang, JJ=rp00280en_US
dc.description.naturelink_to_subscribed_fulltext-
dc.identifier.doi10.1093/bib/bbu018en_US
dc.identifier.scopuseid_2-s2.0-84921837396-
dc.identifier.hkuros229943en_US
dc.identifier.hkuros243526-
dc.identifier.isiWOS:000355015900003-

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