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Fig. 4 | Genome Medicine

Fig. 4

From: Cpipe: a shared variant detection pipeline designed for diagnostic settings

Fig. 4

Overview of Cpipe workflow Cpipe accepts a flexible arrangement of exome or targeted capture samples. Each sample is assigned an Analysis Profile that determines the particular settings and gene list to analyse for that sample. Provenance and QC reports are produced as Excel and PDF files, while variant calls are delivered as both an Excel spreadsheet and a CSV file that is importable to LOVD3. In addition to allele frequencies from population databases, allele frequencies are also annotated from an internal embedded database that automatically tracks local population variants and sequencing artefacts

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