Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

The American College of Medical Genetics and Genomics (ACMG) previously developed guidance for the interpretation of sequence variants.(1) In the past decade, sequencing technology has evolved rapidly with the advent of high-throughput next generation sequencing. By adopting and leveraging next gene...

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Detalles Bibliográficos
Autores principales: Richards, Sue, Aziz, Nazneen, Bale, Sherri, Bick, David, Das, Soma, Gastier-Foster, Julie, Grody, Wayne W., Hegde, Madhuri, Lyon, Elaine, Spector, Elaine, Voelkerding, Karl, Rehm, Heidi L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2015
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4544753/
https://www.ncbi.nlm.nih.gov/pubmed/25741868
http://dx.doi.org/10.1038/gim.2015.30

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