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.
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
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
Thurs. March 19th
- Accuracy And Reproducibility Of Sanger Confirmed Variants With Helix Exome+ NGS Data
Yan Wei Lim, Ph.D., et al.
- Prevalence And Clinical Impact Of Pathogenic Variants In Genes Linked To Monogenic Diabetes In The General Population
Alexandre Bolze, Ph.D., et al.
- Best Practices And Considerations In Implementing Population Genomics Programs Based On Multiple Large-scale Initiatives- From Enrollment To Clinical-grade Return Of Results
Lavania Sharma, M.S., C.G.C., et al.
Fri. March 20th
- A Comprehensive Landscape Of Cyp2d6 Variation And Retrospective Analysis Of Drug Dosing In 30,000 Individuals
Nicole Washington, Ph.D., et al.
- Leveraging Genotype Probability To Improve Clinical Polygenic Risk Score Categorization In 80,000 Exome+ Sequenced Individuals
Jasmin Rizko, B.S., et al.
Want to arrange a meeting?
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.
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.