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...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Genet Med
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: 2015
Assuntos:
Article
Acesso em linha: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
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados