Repository logo
 
Publication

Adaptation of ACMG/AMP guidelines for standardized variant interpretation in familial hypercholesterolemia

2018-06Conference object Restricted access
Simple item page
dc.contributor.authorIacocca, Michael A.
dc.contributor.authorChora, Joana R.
dc.contributor.authorFreiberger, Tomas
dc.contributor.authorCarrie, Alain
dc.contributor.authorLeigh, Sarah E.
dc.contributor.authorKurtz, C. Lisa
dc.contributor.authorTichy, Lukas
dc.contributor.authorDiStefano, Marina T.
dc.contributor.authorWand, Hannah
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 Expert Panel
dc.date.accessioned2019-02-18T17:30:48Z
dc.date.available2019-02-18T17:30:48Z
dc.date.issued2018-06
dc.description.abstractBackground: The successes of clinical genetics rely on accurate DNA 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 (ClinGen) Resource consortium approves expert panels to recommend disease-specific guidelines to achieve evidence-based, standardized variant curation practice.pt_PT
dc.description.sponsorshipThe 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, 1U01HG007437-01, 1U01HG007436-01, and HHSN261200800001E.pt_PT
dc.description.versionN/Apt_PT
dc.identifier.urihttp://hdl.handle.net/10400.18/5875
dc.language.isoengpt_PT
dc.subjectFamilial Hypercholesterolaemiapt_PT
dc.subjectDoenças Cardio e Cérebro-vascularespt_PT
dc.titleAdaptation of ACMG/AMP guidelines for standardized variant interpretation in familial hypercholesterolemiapt_PT
dc.typeconference object
dspace.entity.typePublication
oaire.citation.conferencePlaceToronto, Canadapt_PT
oaire.citation.titleXVIII International Symposium on Atherosclerosis, 9-12 june 2018pt_PT
rcaap.rightsembargoedAccesspt_PT
rcaap.typeconferenceObjectpt_PT

Files

Original bundle
Now showing 1 - 1 of 1
No Thumbnail Available
Name:
ISA 2018 - ClinGen ACMG-FH.pdf
Size:
911.48 KB
Format:
Adobe Portable Document Format
Download
License bundle
Now showing 1 - 1 of 1
No Thumbnail Available
Name:
license.txt
Size:
1.71 KB
Format:
Item-specific license agreed upon to submission
Description:
Download

Collections

DPSPDNT - Posters/abstracts em congressos internacionais