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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Detalhes bibliográficos
Publicado no:Genet Med
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2017
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Original Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5460076/
https://ncbi.nlm.nih.gov/pubmed/28574513
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/gim.2016.163
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