Automation of the Hereditary Cancer Solution by SOPHiA GENETICS on Hamilton STARlet
Hereditary cancer testing requires standardized, reproducible NGS library preparation to support reliable variant detection. This application note demonstrates the automation of the Hereditary Cancer Solution by SOPHiA GENETICS on the Hamilton STARlet, covering whole-genome library preparation and target capture in a two-day workflow. The automated method processes up to 48 samples per run while reducing manual intervention and preparation bias.
- Standardized clinical workflow: Automation supports consistent library preparation and target enrichment for hereditary cancer testing.
- Reliable variant detection: SNVs, Indels, CNVs, and PMS2/PMS2CL gene conversion events were accurately detected in the validation study.
- Scalable sample throughput: Up to 48 sample libraries can be prepared per run across a two-day automated workflow.
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