A research oriented university hospital with their own NGS lab, is moving from targeted disease specific sequencing panels to panels covering thousands of genes, whole-exome and eventually to whole genome sequencing to facilitate secondary use of the NGS data for research. As the cost of sequencing is continuously dropping, performing whole-exome or whole-genome sequencing once and using it for different research purposes is becoming economically feasible.
As the hospital had already adopted a practice to use 3rd party companies for producing disease specific PDF reports, they wanted to start by implementing parallel workflow for secondary use where all produced FASTQ files are also submitted to the BC|GENOME platform. BC|GENOME performs alignment and variant calling, as well as stores produced VCF files to BC|TILING for research and clinical use with BC|PREDICT. In addition, pre-defined variants with clinical significance and calculated risk scores are stored back to patient records.
With BC|PREDICT, clinicians can browse patient sequence data, and annotate data using different databases like ClinVar. BC|PREDICT also produces reports to the patients.