Journal article
Adapting the ACMG/AMP variant classification framework: A perspective from the ClinGen Hemoglobinopathy Variant Curation Expert Panel
Abstract
Accurate and consistent interpretation of sequence variants is integral to the delivery of safe and reliable diagnostic genetic services. To standardize the interpretation process, in 2015, the American College of Medical Genetics and Genomics (ACMG) and the Association for Molecular Pathology (AMP) published a joint guideline based on a set of shared standards for the classification of variants in Mendelian diseases. The generality of these …
Authors
Kountouris P; Stephanou C; Lederer CW; Traeger‐Synodinos J; Bento C; Harteveld CL; Fylaktou E; Koopmann TT; Halim‐Fikri H; Michailidou K
Journal
Human Mutation, Vol. 43, No. 8, pp. 1089–1096
Publisher
Hindawi
Publication Date
August 2022
DOI
10.1002/humu.24280
ISSN
1059-7794