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

Background: 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 respo...

Full description

Bibliographic Details
Main Author: Iacocca, Michael A. (author)
Other Authors: Chora, Joana R. (author), Freiberger, Tomas (author), Carrie, Alain (author), Leigh, Sarah E. (author), Kurtz, C. Lisa (author), Tichy, Lukas (author), DiStefano, Marina T. (author), Wand, Hannah (author), Defesche, Joep (author), Sijbrands, Eric J. (author), Hegele, Robert A (author), Knowles, Joshua W. (author), Bourbon, Mafalda (author), On behalf of the ClinGen FH Variant Curation Expert Panel (author)
Format: conferenceObject
Language:eng
Published: 2019
Subjects:
Familial Hypercholesterolaemia
Doenças Cardio e Cérebro-vasculares
Online Access:http://hdl.handle.net/10400.18/5875
Country:Portugal
Oai:oai:repositorio.insa.pt:10400.18/5875

Internet

http://hdl.handle.net/10400.18/5875

Similar Items