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Adaptation of ACMG/AMP guidelines for variant interpretation in familial hypercholesterolemia – a ClinGen FH Expert Panel pilot study

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dc.contributor.authorChora, Joana
dc.contributor.authorA. Iacocca, Michael
dc.contributor.authorLisa Kurtz, C
dc.contributor.authorCarrie, Alain
dc.contributor.authorTichy, Lukas
dc.contributor.authorE. Leigh, Sarah
dc.contributor.authorT. DiStefano, Marina
dc.contributor.authorDefesche, Joep
dc.contributor.authorJ. Sijbrands, Eric
dc.contributor.authorFreiberger, Tomas
dc.contributor.authorA. Hegele, Robert
dc.contributor.authorW. Knowles, Joshua
dc.contributor.authorBourbon, Mafalda
dc.date.accessioned2018-06-07T13:56:04Z
dc.date.available2018-06-07T13:56:04Z
dc.date.issued2018-05
dc.description.abstractFamilial hypercholesterolemia (FH) is an autosomal dominant disorder of lipid metabolism associated with premature atherosclerosis and increased cardiovascular risk. Over 3,000 variants in LDLR, APOB, and PCSK9 have been identified in FH patients; however, <10% of these have been functionally proven to cause disease. The recent ACMG/AMP guidelines for standardized variant interpretation in Mendelian disorders are being used to help further classify FH-associated variants. Despite such efforts, these existing ACMG/AMP guidelines need to be modified to become more disease-specific for FH. In 2016, the Clinical Genome Resource (ClinGen) consortium FH Expert Panel was created with the goal to develop FH-specific variant interpretation guidelinespt_PT
dc.description.sponsorshipJR Chora was funded by SFRH/BD/108503/2015. The ClinGen Consortium is funded by the NHGRI, in conjunction with additional funding from the NICHD and NCI, through the following grants and contracts: 1U41HG006834-01A1 (Rehm), 1U01HG007437-01 (Berg), 1U01HG007436-01 (Bustamante), and HHSN261200800001E.pt_PT
dc.description.versionN/Apt_PT
dc.identifier.urihttp://hdl.handle.net/10400.18/5567
dc.language.isoengpt_PT
dc.publisherInstituto Nacional de Saúde Doutor Ricardo Jorge, IPpt_PT
dc.subjectFamilial Hypercholesterolemiapt_PT
dc.subjectCardiovascular Riskpt_PT
dc.subjectDoenças Cardio e Cérebro-vascularespt_PT
dc.titleAdaptation of ACMG/AMP guidelines for variant interpretation in familial hypercholesterolemia – a ClinGen FH Expert Panel pilot studypt_PT
dc.typeconference object
dspace.entity.typePublication
oaire.citation.conferencePlaceLisbon, Portugalpt_PT
oaire.citation.title86th Annual Congress of the European Atherosclerosis Society (EAS), 5-8 May 2018pt_PT
rcaap.rightsembargoedAccesspt_PT
rcaap.typeconferenceObjectpt_PT

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