A powerful platform for population-scale genomic research
Helix’s genomics 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. Learn more from our latest research findings and white papers.
The Exome+ assay: Enabling clinical results
and powering research with one assay
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.
Selective constraints and pathogenicity of mitochondrial DNA variants inferred from a novel database of 196,554 unrelated individuals
Genome-wide rare variant analysis for thousands of phenotypes in 54,000 exomes
Population Health Genetic Screening for Tier 1 Inherited Diseases in Northern Nevada: 90% of At-Risk Carriers are Missed
Genetic counseling, 2030: An on‐demand service tailored to the needs of a price conscious, genetically literate, and busy world
Evaluation for Genetic Disorders in the Absence of a Clinical Indication for Testing
Performance of the Helix Exome+ Assay
Clinical applications for the Helix Exome+ Assay
Genome-wide rare variant analysis for thousands of phenotypes in >70,000 exomes
Applying Confidence Intervals to Clinical Polygenic Risk Scores in 60,000 Exome+ Sequenced Individuals
The spectrum of mitochondrial genomic variation across 250,000 individuals
First-line preventative genetic screening: Disease penetrance in Tier 1 inherited diseases in an all-comers population is similar to family history selected populations
A genetic retrospective study of Maturity-Onset Diabetes of the Young (MODY) in two population health studies
Are we ready to implement polygenic risk score tests in the clinic? Expanding the utility of prostate cancer polygenic risk score in multiple ethnicities and clinical best practices
A comprehensive landscape of CYP2D6 variation across 30,000 individuals
Bacon: Baited Abrogation of CONtamination
FEATURED ARTICLE
Population Health Genetic Screening for Tier 1 Inherited Diseases in Northern Nevada: 90% of At-Risk Carriers are Missed
In this paper, we describe results from a large-scale initiative, the Healthy Nevada Project, in which an unselected population of 23,713 participants in Northern Nevada underwent Exome+ sequencing between March 15, 2018, and Sept 30, 2018. We report a 1.26% carrier rate for expected pathogenic and likely pathogenic genetic variants related to Familial Hypercholesterolemia, Hereditary Breast and Ovarian Cancer, and Lynch Syndrome. Over 90% of these individuals were undetected under current medical practice. Of those found to have pathogenic or likely pathogenic variants, 26% had already developed symptoms of advanced disease. Notably, Less than 20% of all carriers had any documented suspicion for inherited genetic disease in the medical record and upon direct follow-up survey under 40% of carriers had family history of relevant disease.
The Impact
The findings makes a strong case for population-scale genetic screening to improve health outcomes by identifying that 1 in 80 participants are living with an elevated risk of developing certain conditions, such as breast cancer or familial hypercholesterolemia—over 90% of whom are unaware of their risk due to the current narrow medical guidelines for genetic screening.
Table S2: List of P/LP Variants for all cases
Research tools
UK Biobank Exome Rare Variant Analysis
The UK Biobank released the whole exome sequences of 50,000 volunteers, each of whom has been measured for thousands of traits (phenotypes) and donated their information to the research community. This dashboard provides anyone who is interested in our research the ability to deep-dive into the research results to better understand the findings.
Helix Mitochondrial database (HelixMTdb)
The HelixMTdb database reflects aggregated and de-identified mitochondrial DNA variants observed in individuals sequenced at Helix. These individuals have not been sequenced based on the presence or absence of any medical phenotype (i.e. there are no inclusion or exclusion criteria in the registration process based on any medical phenotype). The full database, HelixMTdb, can be downloaded here. Please use the appropriate citation when using the HelixMTdb.
*Panel-grade: defined as a ~100% call rate across every base within clinically relevant panels (offering equivalent or superior quality to clinical panels in the market)
