How it works
Rapidly scaling population genomics projects, from participant recruitment to data analyses and beyond.
Helix’s research platform, supported by our proprietary Exome+® assay, CLIA / CAP next-generation sequencing lab, and proprietary bioinformatics tools, enables genomic research at a scale and depth not previously possible.
Helix sequences and securely stores Exome+ data on behalf of each participant enabling flexible and on-demand access to genomic data, with the proper consent. Helix collaborates on data analysis and resulting publications.
Scalable infrastructureMore details
Helix has built high-performance computational services as a part of a scalable genomics infrastructure, including proprietary bioinformatics tools that reduce the lag time between sample collection and data analysis.
Helix's proprietary Exome+®; assay is a panel-grade clinical exome enhanced by ~300,000 informative non-coding regions. Due to its custom design and proprietary bioinformatics solutions, the Exome+ assay provides the benefits of a targeted panel, the breadth of a microarray, and the completeness of an exome—all from one sample and one assay.
Research servicesMore details
Helix's experienced team of researchers are here to collaborate with you to answer questions you have now, as well as those that develop with time. Whether you're interested in genotype-phenotype discovery, rare variant analysis, disease penetrance, or cross-cohort meta analyses, we're here to help.
Go beyond GWAS
We've carefully optimized the Exome+ assay to provide the power of targeted panels alongside the full exome.
Targeted panels can be run on the Exome+ assay thanks to its ≥ 99.5% call rate (at ≥ 20x depth) across roughly 600 genes; each considered important in the areas of hereditary cancer, cardiovascular disease, pharmacogenomics, and carrier screening.
Applications of the Exome+ assay
Don't settle for incomplete data. Helix's Exome+ assay is fortified by robust design and proprietary bioinformatics solutions.
The Exome+ assay enables both clinical return of results and supports research applications with: accurate detection of > 100 CYP2D6 star alleles; array-equivalent genome-wide imputation of tens of millions of high-confidence SNPs; and coverage of the entire mitochondrial genome. Read our white paper to learn more.
Call rate at
≥ 20x depth for
600 clinical genes
CNVs > 2 exons
Coverage of the
The Helix Research Platform is already generating novel insights, ranging from gene-phenotype associations to mitochondrial variation.
Pre-prints, white papers, and posters
See for yourself
You can find a full list of our research, including our pre-prints, poster presentations, and published white papers here.
Our tools are available
We've made a mitochondrial variant database—the largest available—free to download on our Research Page. We also have a tool for searching through our gene-based collapsing analysis results which were generated using exome data from the UK Biobank cohort.