Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders

PURPOSE: Copy-number variation is a common source of genomic variation and an important genetic cause of disease. Microarray-based analysis of copy-number variants (CNVs) has become a first-tier diagnostic test for patients with neurodevelopmental disorders, with a diagnostic yield of 10–20%. Howeve...

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Detalles Bibliográficos
Autores principales: Pfundt, Rolph, del Rosario, Marisol, Vissers, Lisenka E.L.M., Kwint, Michael P., Janssen, Irene M., de Leeuw, Nicole, Yntema, Helger G., Nelen, Marcel R., Lugtenberg, Dorien, Kamsteeg, Erik-Jan, Wieskamp, Nienke, Stegmann, Alexander P.A., Stevens, Servi J.C., Rodenburg, Richard J.T., Simons, Annet, Mensenkamp, Arjen R., Rinne, Tuula, Gilissen, Christian, Scheffer, Hans, Veltman, Joris A., Hehir-Kwa, Jayne Y.
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/PMC5460076/
https://www.ncbi.nlm.nih.gov/pubmed/28574513
http://dx.doi.org/10.1038/gim.2016.163

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5460076/
https://www.ncbi.nlm.nih.gov/pubmed/28574513
http://dx.doi.org/10.1038/gim.2016.163

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