Adapting the ACMG/AMP variant classification framework: A perspective from the ClinGen Hemoglobinopathy Variant Curation Expert Panel

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)...

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Detalles Bibliográficos
Autores principales: Kountouris, Petros, Stephanou, Coralea, Lederer, Carsten W., Traeger‐Synodinos, Joanne, Bento, Celeste, Harteveld, Cornelis L., Fylaktou, Eirini, Koopmann, Tamara T., Halim‐Fikri, Hashim, Michailidou, Kyriaki, Nfonsam, Landry E., Waye, John S., Zilfalil, Bin A., Kleanthous, Marina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Special Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9545675/
https://www.ncbi.nlm.nih.gov/pubmed/34510646
http://dx.doi.org/10.1002/humu.24280

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9545675/
https://www.ncbi.nlm.nih.gov/pubmed/34510646
http://dx.doi.org/10.1002/humu.24280

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