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With the completion of the Human Genome Project, the shift from de novo sequencing to direct sequencing (resequencing) has created the need for more accurate variant detection for medical research and clinical diagnostics. The bottleneck in the workflow (from DNA extraction to result data analysis), which has been cited as taking up to 70% of researchers’ time per project, is the manual review of individual nucleotide bases. This review has been required due to the necessity of having confidence in the variant result.
Increasing confidence can come from applying diligent quality-control metrics, including use of quality values for DNA trace value and confidence values for variant validity. Based on Applied Biosystems experience, this system will filter out low-quality data. The software will then direct users to review only low-confidence variants.
A flexible workflow-based system is being built to enable researchers to obtain their high-confidence results in less time. Methods for filtering low-quality data based on optimal settings and quality visualization tools will be integrated into the system along with simpler variant review and reporting tools to allow researchers to quickly analyze their data.