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Figure 1 | BMC Medical Genomics

Figure 1

From: CNAReporter: a GenePattern pipeline for the generation of clinical reports of genomic alterations

Figure 1

Workflow of CNAReporter, describing sample input files, functions of CNAReporter modules and output examples. Specifically, areas of significant genomic change are tabulated in a PDF-file, characterized by its corresponding type, such as chromosomal gain, loss and allelic imbalances and linked to UCSC Genome Browser [20]. Furthermore, the patient specific report includes a genomic profile that provides raw and smoothed profiles of log2 ratios of sample to reference intensities representing copy numbers, areas of loss-of-heterozygosity (LOH) and genomic calls. These areas are finally labelled in a plot of chromosomal changes that are optionally available for each chromosome separately.

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