Performance and Applications of Helix’s Exome+ Assay

Helix’s Exome+ ® assay is run on all samples sequenced at Helix. This single assay combines a clinical exome with uniform panel-grade tests, a genome-wide backbone, and full mitochondrial coverage. Post sequencing, rigorous quality checks are applied to ensure that the data generated are appropriate for a broad application of clinical genetic tests. These tests range from population health screens, to diagnostic or pharmacogenomic panels to whole exome sequencing. Meanwhile, the Exome+ backbone of whole genome single nucleotide polymorphisms (SNPs), augmented with imputation, enables the generation of ancestry, traits, and polygenic risk scores. By ensuring that this single assay is appropriate for answering a wide list of clinical questions, the Exome+ assay establishes a foundation for Sequence Once, Query Often ® . Sequence Once, Query Often is a process that allows various genetic test results to be delivered for an individual over the course of their life based on when each might be relevant or informative. In building a test menu relying on the Exome+ assay, we have focused on three important pillars: quality, breadth of testing, and turnaround time, as discussed in the following sections.