Cargando…
Professional Responsibilities Regarding the Provision, Publication and Dissemination of Patient Phenotypes in the Context of Clinical Genetic and Genomic Testing: Points to Consider. A statement of the American College of Medical Genetics and Genomics (ACMG)
Autores principales: | Bush, Lynn W., Beck, Anita E., Biesecker, Leslie G., Evans, James P., Hamosh, Ada, Holm, Ingrid A., Martin, Christa L., Richards, C. Sue, Rehm, Heidi L. |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
2018
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5931217/ https://www.ncbi.nlm.nih.gov/pubmed/29323668 http://dx.doi.org/10.1038/gim.2017.242 |
Ejemplares similares
-
High-Throughput Genetic Testing in ALS: The Challenging Path of Variant Classification Considering the ACMG Guidelines
por: Lattante, Serena, et al.
Publicado: (2020) -
ACMG practice guideline: Genetic evaluation of short stature
por: Seaver, Laurie H., et al.
Publicado: (2009) -
Yield of Additional Genetic Testing after Chromosomal Microarray for Diagnosis of Neurodevelopmental Disability and Congenital Anomalies: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)
por: Waggoner, Darrel, et al.
Publicado: (2018) -
MAGI-ACMG: Algorithm for the Classification of Variants According to ACMG and ACGS Recommendations
por: Cristofoli, Francesca, et al.
Publicado: (2023) -
Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria
por: Savige, Judy, et al.
Publicado: (2021)