Single Ventricle SOURCE

There are far too many questions surrounding single ventricle heart defects and not enough answers. Researchers and clinicians need a clear, fundamental understanding of what causes and complicates single ventricle to be able to prevent and treat it—and they’re currently operating without a full picture of the disease.

Through SOURCE, we’re developing a comprehensive genetic and clinical dataset of single ventricle patients and family cohorts and allowing all qualified researchers to access this reSOURCE through a simplified application and review process – propelling single ventricle research forward, further and faster.

About the Study

SOURCE is an IRB-approved study that aims to create the largest and most extensive genomic and clinical dataset focused exclusively on single ventricle heart disease. SOURCE will enroll individuals living with single ventricle heart disease at any age and stage, as well as their immediate biological family members, and collecting saliva samples to perform whole genome sequencing. Then, we’re making the de-identified dataset broadly accessible to researchers and clinicians – fueling not just one research study, but many.

Enrollment for SOURCE will begin in the fall of 2024.

Study Objectives

• Develop a comprehensive and uniformly acquired genetics dataset including at least 5000+ single ventricle patients and their immediate family members.
• Generate a user-friendly research platform for extensive genomic analysis.
• Combine detailed clinical data with genetic data for single ventricle patients.
• Leverage de-identified genetics and health records to understand the causes of single ventricle heart defects and related sequelae

Our Data Philosophy

We do not know where the greatest discoveries will be made — so we are making the reSOURCE dataset open and accessible for research, while protecting our participants’ privacy at all costs. De-identified genomic and phenotypic data (protected health information removed) will be made available to researchers across fields – from basic science to clinical care, including single ventricle-specific studies and beyond. We actively pursue opportunities to share and integrate data with other existing single ventricle biorepositories and registries as we seek to maximize research utilization of the data generously donated by patients and families.

reSOURCE Dataset

The deidentified SOURCE dataset (reSOURCE) will be made available to all qualified researchers.

The dataset includes:

• Whole genome sequencing for all participants (30x coverage, Illumina NovaSeq 6000). Available file types include: FASTQ, BAM aligned to reference genome, VCF, gVCF, and ancestry analysis.
• Cardiac medical records for single ventricle patients, including detailed cardiac anatomy, extracardiac abnormalities, and history of complications and co-morbidities.
• Enrollment surveys for all participants, including cardiac-related medical histories, demographics, and proband relationships.