Efficient detection of chromosome imbalances and single nucleotide variants using targeted sequencing in the clinical setting.
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DOI: 10.1016/j.ejmg.2017.08.020
Abstract: We evaluated an approach to detect copy number variants (CNVs) and single nucleotide changes (SNVs), using a clinically focused exome panel complemented with a backbone and SNP probes that allows for genome-wide copy number changes… read more here.
Keywords: detection; single nucleotide; efficient detection; imbalances single ... See more keywords