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ClinVar database of global familial hypercholesterolemia-associated DNA variants

2018-11Journal article Restricted access
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dc.contributor.authorIacocca, Michael A.
dc.contributor.authorChora, Joana R.
dc.contributor.authorCarrié, Alain
dc.contributor.authorFreiberger, Tomáš
dc.contributor.authorLeigh, Sarah E.
dc.contributor.authorDefesche, Joep C.
dc.contributor.authorKurtz, C. Lisa
dc.contributor.authorDiStefano, Marina T.
dc.contributor.authorSantos, Raul D.
dc.contributor.authorHumphries, Steve E.
dc.contributor.authorMata, Pedro
dc.contributor.authorJannes, Cinthia E.
dc.contributor.authorHooper, Amanda J.
dc.contributor.authorWilemon, Katherine A.
dc.contributor.authorBenlian, Pascale
dc.contributor.authorO'Connor, Robert
dc.contributor.authorGarcia, John
dc.contributor.authorWand, Hannah
dc.contributor.authorTichy, Lukáš
dc.contributor.authorSijbrands, Eric J.
dc.contributor.authorHegele, Robert A.
dc.contributor.authorBourbon, Mafalda
dc.contributor.authorKnowles, Joshua W.
dc.contributor.authoron behalf of the ClinGen FH Variant Curation Expert Panel
dc.date.accessioned2018-10-18T10:18:54Z
dc.date.available2018-10-18T10:18:54Z
dc.date.issued2018-11
dc.description.abstractAccurate and consistent variant classification is imperative for incorporation of rapidly developing sequencing technologies into genomic medicine for improved patient care. An essential requirement for achieving standardized and reliable variant interpretation is data sharing, facilitated by a centralized open-source database. Familial hypercholesterolemia (FH) is an exemplar of the utility of such a resource: it has a high incidence, a favorable prognosis with early intervention and treatment, and cascade screening can be offered to families if a causative variant is identified. ClinVar, an NCBI-funded resource, has become the primary repository for clinically relevant variants in Mendelian disease, including FH. Here, we present the concerted efforts made by the Clinical Genome Resource, through the FH Variant Curation Expert Panel and global FH community, to increase submission of FH-associated variants into ClinVar. Variant-level data was categorized by submitter, variant characteristics, classification method, and available supporting data. To further reform interpretation of FH-associated variants, areas for improvement in variant submissions were identified; these include a need for more detailed submissions and submission of supporting variant-level data, both retrospectively and prospectively. Collaborating to provide thorough, reliable evidence-based variant interpretation will ultimately improve the care of FH patients.pt_PT
dc.description.sponsorshipThe ClinGen consortium is funded by the National Human Genome Research Institute of the National Institutes of Health through the following grants and contracts: U41HG006834, U41HG009649, U41HG009650, U01HG007436, and U01HG007437.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationHum Mutat. 2018 Nov;39(11):1631-1640. doi: 10.1002/humu.23634.pt_PT
dc.identifier.doi10.1002/humu.23634pt_PT
dc.identifier.issn1059-7794
dc.identifier.urihttp://hdl.handle.net/10400.18/5620
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherWiley/Human Genome Variation Societypt_PT
dc.relation.publisherversionhttps://doi.org/10.1002/humu.23634pt_PT
dc.subjectClinVarpt_PT
dc.subjectClinical Genome Resourcept_PT
dc.subjectFamilial Hypercholesterolemiapt_PT
dc.subjectVariant Interpretationpt_PT
dc.subjectDoenças Cardio e Cérebro-vascularespt_PT
dc.titleClinVar database of global familial hypercholesterolemia-associated DNA variantspt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.endPage1640pt_PT
oaire.citation.issue11pt_PT
oaire.citation.startPage1631pt_PT
oaire.citation.titleHuman Mutationpt_PT
oaire.citation.volume39pt_PT
rcaap.rightsembargoedAccesspt_PT
rcaap.typearticlept_PT

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