Most research teams know the frustration: you have a scientific question, but getting to the data that can answer it takes weeks. You're waiting on data pulls, chasing informatics teams, and refining queries across spreadsheets before you've even started the science. GenoSphere™ and our AI-powered Cohort Builder tool were built to fix that.
Key Highlights
- GenoSphere™ covers 500,000+ exome-sequenced individuals with an average of 13+ years of linked longitudinal clinical data
- Cohort Builder lets research teams go from scientific question to sized, characterized cohort in a single session, no SQL required
- Supports the full research workflow: feasibility checks, variant-level queries, comorbidity analysis, and panel coverage validation
- Built-in AI Research Assistant trained on Helix's clinico-genomic data and workflows, with context that carries across your entire session
- GenoSphere™ is on track to reach one million enrolled participants by 2027, with quarterly data refreshes keeping the dataset current
What is GenoSphere and Why Does it Matter for Research?
GenoSphere™ is Helix's clinico-genomic research ecosystem. It covers 500,000+ consented individuals with Whole Exome+ sequencing linked to longitudinal electronic health records and claims data. Average follow-up per participant is 13+ years. Clinical data is OMOP-harmonized, standardized and interoperable across conditions, medications, and lab values. The dataset spans cardiovascular, autoimmune, metabolic, and rare disease populations and is refreshed quarterly.
What makes it useful for research isn't just the scale. It's the linkage. Variant data and clinical history on the same individuals, over time, in a format that's actually queryable. That combination is harder to find than it should be, and it's exactly what Cohort Builder is built on top of.
Scientific Question to Clinico-genomic Cohort - How cohort builder works
Cohort Builder is an AI-powered tool that lets life science teams define, explore, and monitor GenoSphere™ cohorts without writing a single line of code.
The workflow is built for speed:
- Build: Define inclusion and exclusion criteria across clinical, genomic, and demographic dimensions using a drag-and-drop interface
- Review: Explore cohort demographics including age, sex, race, and ethnicity through built-in visualizations
- Analyze: Examine diagnoses, medications, variant classifications, and longitudinal lab trajectories
- Manage: Save multiple cohorts, track growth over time, and plan for target population sizes
A researcher can go from a scientific question to a sized, characterized cohort in a single session. Not a multi-week back-and-forth with a data team.
Driving Research and Development with Cohort Builder
Feasibility First: Know the Numbers Before Designing
Before you design a study, you need to know the scope of the dataset. Cohort Builder gives you an immediate read on GenoSphere across dimensions that matter for feasibility:
- Population size and ancestry representation
- Therapeutic area depth such as cardiovascular, autoimmune, metabolic, and more
- Clinical data types available, including diagnoses, labs and medications
Before any feasibility or protocol gets written, teams can answer the foundational question in less than a minute: Is the foundational data here to support this study?
Cohort Builder provides the upfront clarity with real population counts, not projections.
Genetic Eligibility Criteria Shouldn’t Take Months to Validate
Precision medicine trials increasingly require genetic eligibility criteria. Identifying how many patients actually meet those criteria in a real-world dataset is rarely straightforward.
Cohort Builder lets researchers query variant-level data directly: filter by gene, by ClinVar classification, by carriers and variant prevalence across the dataset.
Ask how many participants carry a P/LP BRCA1 variant and which ones show up most often. You get that answer directly from 500,000 exomes.
This kind of variant-level visibility is foundational for:
- Target validation and biomarker discovery
- Genetically-stratified clinical trials
- Carrier frequency studies across diverse populations
How Prevalent Are Your Target Genes in the Dataset? Check Before It Costs You
One of the more avoidable research setbacks is designing a study around a genetic signal and then discovering mid-way through that the relevant gene wasn't captured in the dataset. It's a solvable problem if you catch it early, and an expensive one if you don't.
Cohort Builder lets you check clinical panel coverage upfront. Confirm that APOE, LDLR, PCSK9, or whichever targets are central to your program are present and queryable in GenoSphere™. For teams working across multiple gene targets or evaluating GenoSphere™ as a fit for a new program, this check is a natural starting point.
AI-Assistant that Understands Genomics, Not Just Natural Language
Cohort Builder includes an AI Research Assistant trained on Helix's clinico-genomic data and platform workflows. It can help you build and refine cohorts through conversation, suggest analytical approaches, and retain context across your session while building on what you've already done rather than starting fresh with every question.
Why Does This Matter for Precision Medicine Research?
The bottleneck in precision medicine research isn't usually the science. It's the time it takes to get to the right data, in a usable form, to answer a specific question. GenoSphere™ and Cohort Builder are built to close that gap, giving research teams population-scale clinico-genomic data in a format they can work with from the first question to the final analysis.
GenoSphere™ is on track to reach one million enrolled participants by 2027. The foundation is there and it keeps growing. Helix is developing AI-driven capabilities that integrate advanced analytics with scalable infrastructure to support data discovery and research at scale.
To learn how to access and schedule a demo of GenoSphere, speak with our team here or email life-sciences@helix.com