Technical standards for the interpretation and reporting of constitutional copy number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen)

Copy number analysis to detect disease-causing losses and gains across the genome is recommended for the evaluation of individuals with neurodevelopmental disorders and/or multiple congenital anomalies, as well as for fetuses with ultrasound abnormalities. In the decade that this analysis has been i...

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Detalles Bibliográficos
Autores principales: Riggs, Erin Rooney, Andersen, Erica F., Cherry, Athena M., Kantarci, Sibel, Kearney, Hutton, Patel, Ankita, Raca, Gordana, Ritter, Deborah I., South, Sarah T., Thorland, Erik C., Pineda-Alvarez, Daniel, Aradhya, Swaroop, Martin, Christa Lese
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7313390/
https://www.ncbi.nlm.nih.gov/pubmed/31690835
http://dx.doi.org/10.1038/s41436-019-0686-8

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7313390/
https://www.ncbi.nlm.nih.gov/pubmed/31690835
http://dx.doi.org/10.1038/s41436-019-0686-8

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