Adapting the ACMG/AMP variant classification framework: A perspective from the ClinGen Hemoglobinopathy Variant Curation Expert Panel. Kountouris, P., Stephanou, C., Lederer, C. W., Traeger-Synodinos, J., Bento, C., Harteveld, C. L., Fylaktou, E., Koopmann, T. T., Halim-Fikri, H., Michailidou, K., Nfonsam, L. E., Waye, J. S., Zilfalil, B. A., Kleanthous, M., & ClinGen Hemoglobinopathy Variant Curation Expert Panel Human Mutation, 43(8):1089–1096, August, 2022.
doi  bibtex   
@article{kountouris_adapting_2022,
	title = {Adapting the {ACMG}/{AMP} variant classification framework: {A} perspective from the {ClinGen} {Hemoglobinopathy} {Variant} {Curation} {Expert} {Panel}},
	volume = {43},
	issn = {1098-1004},
	shorttitle = {Adapting the {ACMG}/{AMP} variant classification framework},
	doi = {10.1002/humu.24280},
	language = {eng},
	number = {8},
	journal = {Human Mutation},
	author = {Kountouris, Petros and Stephanou, Coralea and Lederer, Carsten W. and Traeger-Synodinos, Joanne and Bento, Celeste and Harteveld, Cornelis L. and Fylaktou, Eirini and Koopmann, Tamara T. and Halim-Fikri, Hashim and Michailidou, Kyriaki and Nfonsam, Landry E. and Waye, John S. and Zilfalil, Bin A. and Kleanthous, Marina and {ClinGen Hemoglobinopathy Variant Curation Expert Panel}},
	month = aug,
	year = {2022},
	pmid = {34510646},
	pmcid = {PMC9545675},
	keywords = {ACMG/AMP criteria, ClinGen VCEP, Genetic Testing, Genetic Variation, Genome, Human, Hemoglobinopathies, Humans, Pathology, Molecular, United States, globin gene variants, hemoglobinopathy, variant classification},
	pages = {1089--1096},
}

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