Publication
Progress in ACMG/AMP-adapted guidelines for standardized variant curation in familial hypercholesterolemia
| dc.contributor.author | Iacocca, Michael A. | |
| dc.contributor.author | Chora, Joana | |
| dc.contributor.author | Rivera, E. Andy | |
| dc.contributor.author | DiStefano, Marina T. | |
| dc.contributor.author | Carrie, Alain | |
| dc.contributor.author | Sijbrands, Eric J. | |
| dc.contributor.author | Defesche, Joep | |
| dc.contributor.author | Freiberger, Tomas | |
| dc.contributor.author | Knowles, Joshua W. | |
| dc.contributor.author | Hegele, Robert A. | |
| dc.contributor.author | Bourbon, Mafalda | |
| dc.date.accessioned | 2018-01-17T12:29:14Z | |
| dc.date.available | 2018-01-17T12:29:14Z | |
| dc.date.issued | 2017-06 | |
| dc.description | Curating the Clinical Genome Meeting 2017, 28-30 June 2017 | pt_PT |
| dc.description.abstract | Background: - The successes of clinical genetics rely on accurate variant interpretation for the purpose of informing diagnosis and treatment: - However, this practice is often rudimentary and differs among diagnostic laboratories, leading to inconsistencies in pathogenicity classification; - In response, the Clinical Genome Resources (ClinGen) consortium approves expert panels to recommend disease-specific guidelines to achieve evidence-based, standardized variant curation practice. Familial Hypercholesterolemia (FH) Working Group: - FH is a prevalent monogenic disorder, affecting ~1/250 individuals; - It is characterized by extreme LDL cholesterol levels and premature atherosclerosis causing cardiovascular disease; - Genetic testing is increasingly offered worldwide as a central part of diagnosis. | pt_PT |
| dc.description.sponsorship | The contents of this poster are presented on behalf of the ClinGen FH Variant Curation Committee. 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.version | N/A | pt_PT |
| dc.identifier.uri | http://hdl.handle.net/10400.18/4871 | |
| dc.language.iso | eng | pt_PT |
| dc.rights.uri | http://creativecommons.org/licenses/by-nc/4.0/ | pt_PT |
| dc.subject | Familial Hypercholesterolemia | pt_PT |
| dc.subject | Cardiovascular Disease | pt_PT |
| dc.subject | Doenças Cardio e Cérebro-vasculares | pt_PT |
| dc.title | Progress in ACMG/AMP-adapted guidelines for standardized variant curation in familial hypercholesterolemia | pt_PT |
| dc.type | conference object | |
| dspace.entity.type | Publication | |
| oaire.citation.conferencePlace | Washington, DC, USA | pt_PT |
| oaire.citation.title | Curating the Clinical Genome Meeting 2017, 28-30 June 2017 | pt_PT |
| rcaap.rights | embargoedAccess | pt_PT |
| rcaap.type | conferenceObject | pt_PT |