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Familial hypercholesterolemia-associated variants submitted to ClinVar: a ClinGen FH effort

2018-05Conference object Restricted access
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dc.contributor.authorRita Chora, Joana
dc.contributor.authorIacocca, Michael A.
dc.contributor.authorDiStefano, Marina T.
dc.contributor.authorCarrie, Alain
dc.contributor.authorFreiberger, Tomas
dc.contributor.authorLeigh, Sarah E.
dc.contributor.authorKurtz, C. Lisa
dc.contributor.authorDefesche, Joep
dc.contributor.authorSijbrands, Eric J.
dc.contributor.authorHegele, Robert A.
dc.contributor.authorKnowles, Joshua W.
dc.contributor.authorBourbon, Mafalda
dc.contributor.authoron behalf of the ClinGen FH Variant Curation Committee
dc.date.accessioned2019-02-22T17:27:23Z
dc.date.available2019-02-22T17:27:23Z
dc.date.issued2018-05
dc.description.abstractFamilial hypercholesterolemia (FH) is an autosomal dominant disorder of lipid metabolism characterized by elevated levels of LDL-C and increased cardiovascular risk. A vast number of potentially pathogenic variants have been identified in FH patients in LDLR, APOB, and PCSK9 genes. We sought to encourage FH researchers/clinicians worldwide to submit their variant findings to the centralized ClinVar database, with the ultimate goal of achieving accurate and consistent variant classification through data sharing and eventual development of FH-specific variant interpretation guidelines.pt_PT
dc.description.sponsorshipWith thanks to Wellcome Genome Campus Scientific Conferences for support in the form of a bursary. The contents of this poster are presented on behalf of the ClinGen FH Variant Curation Committee. JR Chora was funded by SFRH/BD/108503/2015. ClinGen is primarily funded by the National Human Genome Research Institute (NHGRI), through the following three grants: U41HG006834, U41HG009649, U41HG009650.pt_PT
dc.description.versionN/Apt_PT
dc.identifier.urihttp://hdl.handle.net/10400.18/5929
dc.language.isoengpt_PT
dc.subjectFamilial Hypercholesterolemiapt_PT
dc.subjectDoenças Cardio e Cérebro-vascularespt_PT
dc.titleFamilial hypercholesterolemia-associated variants submitted to ClinVar: a ClinGen FH effortpt_PT
dc.typeconference object
dspace.entity.typePublication
oaire.citation.conferencePlaceHinxton, Cambridge, UKpt_PT
oaire.citation.titleCurating the Clinical Genome Meeting - ClinGen 2018, 23-25 May 2018pt_PT
rcaap.rightsembargoedAccesspt_PT
rcaap.typeconferenceObjectpt_PT

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