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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Genom Data
Egile Nagusiak: 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.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Elsevier 2014
Gaiak:
Data in Brief
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC4526866/
https://ncbi.nlm.nih.gov/pubmed/26258046
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.gdata.2014.06.009
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