期刊
HUMAN MUTATION
卷 43, 期 8, 页码 1089-1096出版社
WILEY-HINDAWI
DOI: 10.1002/humu.24280
关键词
ACMG/AMP criteria; ClinGen VCEP; globin gene variants; hemoglobinopathy; variant classification
资金
- Research and Innovation Foundation [EXCELLENCE/1216/256]
This article discusses the experience of the ClinGen Variant Curation Expert Panel in adapting ACMG/AMP criteria for classifying variants in three globin genes related to recessively inherited hemoglobinopathies, using five evidence categories as examples to demonstrate the process of specification and rationale underlying the classification.
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 standards and their subjective interpretation between laboratories has prompted efforts to reduce discordance of variant classifications, with a focus on the expert specification of the ACMG/AMP guidelines for individual genes or diseases. Herein, we describe our experience as a ClinGen Variant Curation Expert Panel to adapt the ACMG/AMP criteria for the classification of variants in three globin genes (HBB, HBA2, and HBA1) related to recessively inherited hemoglobinopathies, including five evidence categories, as use cases demonstrating the process of specification and the underlying rationale.
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