Sherloc: a comprehensive refinement of the ACMG–AMP variant classification criteria

PURPOSE: The 2015 American College of Medical Genetics and Genomics–Association for Molecular Pathology (ACMG–AMP) guidelines were a major step toward establishing a common framework for variant classification. In practice, however, several aspects of the guidelines lack specificity, are subject to...

Descripción completa

Detalles Bibliográficos
Autores principales: Nykamp, Keith, Anderson, Michael, Powers, Martin, Garcia, John, Herrera, Blanca, Ho, Yuan-Yuan, Kobayashi, Yuya, Patil, Nila, Thusberg, Janita, Westbrook, Marjorie, Topper, Scott
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2017
Materias:
Original Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5632818/
https://www.ncbi.nlm.nih.gov/pubmed/28492532
http://dx.doi.org/10.1038/gim.2017.37

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5632818/
https://www.ncbi.nlm.nih.gov/pubmed/28492532
http://dx.doi.org/10.1038/gim.2017.37

Ejemplares similares