Increasing clinical interest and decreasing sequencing costs are driving the wider
implementation of clinical next generation sequencing assays for the diagnosis of
inherited disease, including among a growing number of small to medium sized clinical
laboratories. Therefore, an optimal combination of cost-effectiveness and clinical
specificity is required to continue this broad adoption of genomic technology for clinical
diagnosis. Sanger confirmation of all NGS variants is a common practice that increases
both cost and turnaround time for clinical reporting. We reviewed 300 cases of Sanger
verified NGS results as well as 60 suspected (and subsequently confirmed) artifacts,
and developed a set of multiple criteria to report NGS variants without Sanger
verification with 100% accuracy. Using these criteria, we project greater than 80% of
clinically reported variants could be confidently released without Sanger confirmation.
Nelson AC, Bower M, Baughn LB, Henzler C, Onsongo G, et al. (2015) Criteria for Clinical Reporting of Variants from a Broad Target Capture NGS Assay without Sanger Verification. JSM Biomar 2(1): 1005
Nelson, Andrew C.; Bower, Matthew; Baughn, Linda B.; Henzler, Christine; Onsongo, Getiria; Silverstein, Kevin A.T.; Schomaker, Matthew; Deshpande, Archana; Beckman, Kenneth B.; Yohe, Sophia; Thyagarajan, Bharat.
Criteria for Clinical Reporting of Variants from a Broad Target Capture NGS Assay without Sanger Verification.
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