The “orthogonal approach” maximizes the comprehensiveness and accuracy of the Claritas Clinical Exome and Regions of Interest tests. The result is the highest resolution interpretation and best confirmed results available today.

The DNA sample is processed using two independent DNA capture and sequencing methods, on the Illumina Next-Seq™ platform and then confirmed on LIFE Ion Torrent™ system. This translates into a combined total coverage of ~99% of the exome, higher than any one platform alone.

This also results in the immediate confirmation (see by both platforms, also called “orthogonal confirmation”) of ~90% of all variants, accelerating turnaround time and simplifying the process of variant confirmation. Of the ~10% variants that are not immediately orthogonally confirmed, most are lacking sufficient coverage on the second platform. These variants are generally true positives and may require confirmation by leveraging data from a patient’s parents in trio testing or using Sanger or another sequencing technology.

Only those variants that are both phenotypically-relevant and potentially pathogenic are analyzed. Once the analysis of all such variants is finished, a complete report is generated that provides an easy-to-understand summary with a clear interpretation of findings. The WuXi-NextCODE system, which powers our interpretation, provides an additional level of confidence through the unique ability to instantly visually confirm all findings in raw sequence reads. The data underlying the clinical exome and the filters used on the case can be accessed at any time by the ordering provider through the Claritas-WuXi-NextCODE instance.


The “Orthogonal Approach” maximizes the comprehensiveness and accuracy of Claritas Clinical Exomes and Regions of Interest.

Method Outline

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