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Article: Contribution of rare and common variants determine complex diseases-Hirschsprung disease as a model

TitleContribution of rare and common variants determine complex diseases-Hirschsprung disease as a model
Authors
KeywordsHirschsprung disease
Functional assays
Systems biology
Rare variants
Next generation sequencing
GWAS
Issue Date2013
Citation
Developmental Biology, 2013, v. 382, n. 1, p. 320-329 How to Cite?
AbstractFinding genes for complex diseases has been the goal of many genetic studies. Most of these studies have been successful by searching for genes and mutations in rare familial cases, by screening candidate genes and by performing genome wide association studies. However, only a small fraction of the total genetic risk for these complex genetic diseases can be explained by the identified mutations and associated genetic loci. In this review we focus on Hirschsprung disease (HSCR) as an example of a complex genetic disorder. We describe the genes identified in this congenital malformation and postulate that both common 'low penetrant' variants in combination with rare or private 'high penetrant' variants determine the risk on HSCR, and likely, on other complex diseases. We also discuss how new technological advances can be used to gain further insights in the genetic background of complex diseases. Finally, we outline a few steps to develop functional assays in order to determine the involvement of these variants in disease development. © 2013 Elsevier Inc.
Persistent Identifierhttp://hdl.handle.net/10722/220740
ISSN
2015 Impact Factor: 3.155
2015 SCImago Journal Rankings: 2.554

 

DC FieldValueLanguage
dc.contributor.authorAlves, Maria M.-
dc.contributor.authorSribudiani, Yunia-
dc.contributor.authorBrouwer, Rutger W W-
dc.contributor.authorAmiel, Jeanne-
dc.contributor.authorAntiñolo, Guillermo-
dc.contributor.authorBorrego, Salud-
dc.contributor.authorCeccherini, Isabella-
dc.contributor.authorChakravarti, Aravinda-
dc.contributor.authorFernández, Raquel M.-
dc.contributor.authorGarcia-Barcelo, Maria Mercè-
dc.contributor.authorGriseri, Paola-
dc.contributor.authorLyonnet, Stanislas-
dc.contributor.authorTam, Paul K.-
dc.contributor.authorVan IJcken, Wilfred F J-
dc.contributor.authorEggen, Bart J L-
dc.contributor.authorTe Meerman, Gerard J.-
dc.contributor.authorHofstra, Robert M W-
dc.date.accessioned2015-10-16T06:50:25Z-
dc.date.available2015-10-16T06:50:25Z-
dc.date.issued2013-
dc.identifier.citationDevelopmental Biology, 2013, v. 382, n. 1, p. 320-329-
dc.identifier.issn0012-1606-
dc.identifier.urihttp://hdl.handle.net/10722/220740-
dc.description.abstractFinding genes for complex diseases has been the goal of many genetic studies. Most of these studies have been successful by searching for genes and mutations in rare familial cases, by screening candidate genes and by performing genome wide association studies. However, only a small fraction of the total genetic risk for these complex genetic diseases can be explained by the identified mutations and associated genetic loci. In this review we focus on Hirschsprung disease (HSCR) as an example of a complex genetic disorder. We describe the genes identified in this congenital malformation and postulate that both common 'low penetrant' variants in combination with rare or private 'high penetrant' variants determine the risk on HSCR, and likely, on other complex diseases. We also discuss how new technological advances can be used to gain further insights in the genetic background of complex diseases. Finally, we outline a few steps to develop functional assays in order to determine the involvement of these variants in disease development. © 2013 Elsevier Inc.-
dc.languageeng-
dc.relation.ispartofDevelopmental Biology-
dc.subjectHirschsprung disease-
dc.subjectFunctional assays-
dc.subjectSystems biology-
dc.subjectRare variants-
dc.subjectNext generation sequencing-
dc.subjectGWAS-
dc.titleContribution of rare and common variants determine complex diseases-Hirschsprung disease as a model-
dc.typeArticle-
dc.description.natureLink_to_subscribed_fulltext-
dc.identifier.doi10.1016/j.ydbio.2013.05.019-
dc.identifier.pmid23707863-
dc.identifier.scopuseid_2-s2.0-84884414964-
dc.identifier.hkuros227303-
dc.identifier.hkuros217530-
dc.identifier.volume382-
dc.identifier.issue1-
dc.identifier.spage320-
dc.identifier.epage329-
dc.identifier.eissn1095-564X-

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