CNspector is a web-based tool for clinical diagnosis and visualization of copy number variation (CNV) using next-generation sequencing (NGS) data.
Genetics; Genetic variation; diagnostics
Markham JF, Yerneni S, Ryland GL, Leong HS, Fellowes A, Thompson ER, De Silva W, Kumar A, Lupat R, Li J, Ellul J, Fox S, Dickinson M, Papenfuss AT, Blombery P "CNspector: a web-based tool for visualisation and clinical diagnosis of copy number variation from next generation sequencing." Sci Rep. 2019 Apr 23;9(1):6426. https://doi.org/10.1038/s41598-019-42858-8
PMID: 31015508
PMCID: PMC6478945
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