Platform comparison of detecting copy number variants with microarrays and whole-exome sequencing

Copy number variation (CNV) is a common source of genetic variation that has been implicated in many genomic disorders, Mendelian diseases, and common/complex traits. Genomic microarrays are often employed for CNV detection. More recently, whole-exome sequencing (WES) has enabled detection of clinic...

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Detalles Bibliográficos
Autores principales: de Ligt, Joep, Boone, Philip M., Pfundt, Rolph, Vissers, Lisenka E.L.M., de Leeuw, Nicole, Shaw, Christine, Brunner, Han G., Lupski, James R., Veltman, Joris A., Hehir-Kwa, Jayne Y.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2014
Materias:
Data in Brief
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4526866/
https://www.ncbi.nlm.nih.gov/pubmed/26258046
http://dx.doi.org/10.1016/j.gdata.2014.06.009

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