Single Ventricle SOURCE
Big questions require big data.
Why are children born with single ventricle heart disease? Why do some people with single ventricle heart disease remain stable for decades while others with similar anatomy and surgical histories develop life-threatening complications? Who is most at risk? And could we identify that risk early enough to change their trajectory?
Today, we still cannot fully answer these questions.
Single ventricle is not one disease with a predictable course. It reflects a complex interplay of genetics, development, anatomy, physiology, environmental exposures, and clinical care. Yet, research has historically relied on small cohorts, narrow phenotypes, and datasets isolated within individual institutions. The result is a fragmented picture of a profoundly complex disease.
SOURCE was built to change what’s possible.
The Study
Single Ventricle SOURCE is the largest study of its kind dedicated to single ventricle heart disease. This IRB-approved research study is building the scale, genomic depth, and clinical resolution needed to uncover the biology of the disease and address some of the field’s most consequential questions.
SOURCE enrolls individuals across all ages, diagnoses, and stages of care, along with their first-degree biological relatives. Participants contribute biospecimens for whole genome sequencing, their cardiac history, and deeply curated clinical information – creating an unprecedented family-based genomic and clinical resource.
This scale matters. Outcomes can differ dramatically even among patients with similar anatomy and surgical histories, suggesting that important biological differences remain undiscovered. By bringing genomic, clinical, and family-based data together, SOURCE can help researchers investigate disease origins, identify genetic contributors to complications, explain clinical variability, improve risk prediction, and uncover new targets for treatment.
One study: a reSOURCE for the entire research community
Data generated through SOURCE comprise reSOURCE, a deidentified genomic and clinical dataset made broadly available to qualified researchers. reSOURCE is available at no cost, with no requirement to contribute data, and its use is not limited to single ventricle or congenital heart disease research.
Applications are accepted on a rolling basis through a streamlined access process designed to reduce traditional barriers to data access while enabling responsible research and protecting participant privacy.
At the same time, advances in single-cell and spatial biology, computational modeling, multi-organ developmental atlases, and other emerging technologies are giving researchers entirely new ways to study complex disease. reSOURCE provides the foundational human data needed to put those tools to work, moving the field beyond associations and toward biological mechanisms, meaningful disease subtypes, and actionable insight.
Additional Ventures has committed more than $8 million to SOURCE to build this foundational resource and make it broadly available at no cost. The ambition is not simply to create a large dataset. It is to build the discovery engine capable of generating the mechanistic evidence needed to understand single ventricle heart disease – and accelerate the development of targeted, transformative treatments for patients.
The Dataset
reSOURCE is built for questions smaller datasets cannot answer.
Understanding single ventricle heart disease requires researchers to see what smaller, disconnected datasets often obscure: how genetics, family relationships, clinical characteristics, and lived outcomes intersect within the same individuals.
reSOURCE is the research dataset generated through SOURCE – a large-scale, deidentified genomic and clinical dataset built to expand what researchers can ask and answer about single ventricle heart disease.
Genomic depth meets clinical resolution
reSOURCE combines 30x whole genome sequencing with detailed clinical phenotyping, demographic information, cardiac history, and family-based data from single ventricle patients and their first-degree relatives.
Bringing these data together in one carefully characterized cohort allows researchers to examine questions that cannot be answered through genomic or clinical data alone. What biological pathways contribute to the development of single ventricle? How is risk inherited within families? Why do patients with similar diagnoses experience vastly different trajectories? Which genetic factors influence specific complications or outcomes?
With reSOURCE, researchers can investigate disease origins, inheritance, phenotypic variability, resilience, and genetic contributors to clinical outcomes, all within a single integrated resource.
Designed to be used by researchers
A powerful dataset can only advance science if researchers can access it. reSOURCE was built to reduce many of the traditional barriers that slow data-driven discovery.
There is no cost to access the dataset and no requirement for researchers to contribute data. Applications are accepted on a rolling basis through a streamlined process, with access governed though a Data Use Agreement that supports responsible research and protects participant privacy.
A reSOURCE built to become more powerful over time
SOURCE also actively pursues opportunities to connect reSOURCE with complementary single ventricle biorepositories and registries to maximize the scientific value of data contributed by patients and families. These connections can expand cohort size, enrich available phenotypes, enable validation across populations, and generate insights no individual resource could produce alone.
By putting a large cohort of deeply characterized single ventricle data in the hands of more researchers, reSOURCE creates the foundation for more ambitious questions, stronger collaborations, and faster discovery.
What’s in reSOURCE
reSOURCE brings together genomic, clinical, demographic, and family-based data in one research-ready resource. The dataset includes single ventricle patients across any age and stage of care, including post-transplant, as well as their first-degree biological relatives.
The reSOURCE dataset includes the following deidentified data:
For all participants:
- 30x whole genome sequencing
- Age and demographic information
- Family relationships
- History of congenital heart defects
For single ventricle patients:
- Detailed cardiac anatomy and diagnosis
- Extracardiac anomalies
- Major cardiac procedures and interventions
- Additional clinical phenotype data collected through SOURCE
Data Access
reSOURCE is available free of charge to qualified researchers worldwide through a streamlined application and review process. Applications are accepted on a rolling basis, with no fixed deadlines. Researchers submit a Data Access Request that includes the required Data Use Agreement and a brief description of the proposed research, requested data, research team, and intended computing environment.
Applications are reviewed by the reSOURCE Data Access Committee. reSOURCE may be used for a broad range of approved research purposes, including general research, commercial research, methods development, and use of reSOURCE as a control dataset for biomedical and health-related studies. Approved users are provisioned access through Gencove Explorer, and approved reSOURCE projects are publicly listed through Proposal Central.
How access works
- Review the SOURCE Data Access Guidelines
- Apply for access and sign the Data Use and Certification Agreement
- Expedited Data Access Committee review
- Once approved, set up Gencove access
- Access reSOURCE through Gencove Explorer
reSOURCE v1.0 At a Glance
974 ~30x whole genomes
508 clinically phenotyped single ventricle patients
466 first-degree relatives
92 complete trios
4 phenotypically discordant monozygotic twin pairs
Documentation
The following materials provide additional information for requesting, interpreting, and working with reSOURCE data.
SOURCE Data Use and Certification Agreement