A Patient-Centric SNV-CNV Pipeline
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چکیده
This application note outlines the Illumina methodology for estimating DNA copy number for data produced on Affymetrix Genome Wide Human single nucleotide polymorphism (SNP) 5.0 and 6.0 arrays on the BaseSpace Correlation Engine. Within a patient-centric context, data are obtained for an individual patient rather than a batch. Also, patient data are often supplied without a matching reference. The copy-number variations (CNVs) and copy-number aberrations (CNAs) identification pipeline must account for both these factors.
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