What will we be talking about?

Helix's comprehensive population genomics solution—including the proprietary panel-grade Exome+ assay, next-generation sequencing lab, and research platform—is powering multiple population health initiatives. Data from these projects have highlighted the potential impact that population genomics initiatives can have on community health outcomes, and have already been used to uncover novel insights into the genetics of health and disease.

Platform talk

Assessing The Pathogenicity Of Mitochondrial DNA Variants Using A Novel Database Of 196,554 Unrelated Individuals

Alexandre Bolze, Ph.D., will discuss the benefits of using HelixMTdb—the largest publicly available mitochondrial variant database—to assess the effects of mitochondrial DNA variants on rare mitochondrial diseases.

March 18, 12:15pm - Session 133

  • Thurs. March 19th
  • Fri. March 20th

Poster presentations

We're covering all things population genomics at this year's ACMG, from polygenic risk scores to pharmcogenomics, clinical best practices, and more. You can find us at any of these posters or at our booth, #1041. Keep up with our research anytime here

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Recent papers from Helix

Genome-wide rare variant analysis for thousands of phenotypes in over 70,000 exomes from two cohorts

In a first-of-its-kind analysis (published in Nature Communications), Helix researchers leveraged rare variant discovery and PheWAS in two large exome cohorts (The Healthy Nevada Project and UK Biobank) across thousands of medical record phenotypes to demonstrate novel biomarker discoveries. Had our researchers been limited to microarray or low coverage whole genome sequencing data, this analysis wouldn't have been possible.

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Population Health Genetic Screening for Tier 1 Inherited Diseases in Northern Nevada: 90% of At-Risk Carriers are Missed

Here, we describe results from the Healthy Nevada Project, in which an unselected population of 23,713 participants in Northern Nevada underwent Exome+ sequencing. We found that 1 in 80 participants are living with an elevated risk of developing CDC Tier 1 conditions—over 90% of whom are unaware of their risk due to the current narrow medical guidelines for genetic screening.

Pre-print