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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Détails bibliographiques
Publié dans:Genet Med
Auteurs principaux: 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.
Format: Artigo
Langue:Inglês
Publié: 2015
Sujets:
Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC4544753/
https://ncbi.nlm.nih.gov/pubmed/25741868
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/gim.2015.30
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