Determination of high-confidence germline genetic variants in next-generation sequencing through machine learning models: an approach to reduce the burden of orthogonal confirmation.

Abstract excerpt

BACKGROUND: Orthogonal confirmation of variants identified by next-generation sequencing (NGS) is routinely performed in many clinical laboratories to improve assay specificity. However, confirmatory testing of all clinically significant variants increases both turnaround time and operating costs for laboratories. Improvements to early NGS methods and bioinformatics algorithms have dramatically improved variant...

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