reSOURCE v1.0

Released October 2026

reSOURCE is designed as a growing dataset, with new cohort-level releases planned annually as the SOURCE study expands. Over the next three years, SOURCE aims to enroll and sequence 10,000 participants, including 5,000+ single ventricle patients and as many of their first-degree relatives as possible.

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Data

reSOURCE v1.0 includes genomic data for all participants and detailed clinical phenotype data for single ventricle participants. Family relationships are represented across trios, duos, siblings, multigenerational families, and monozygotic twin pairs.

 

Release
Release date October 8, 2026
Participants 974
Single ventricle probands 508
First-degree relatives 466
Cohort-level joint-called VCF Available
Genome build GRCh38
Release Notes Included in v1.0
Family structures
Complete trios 92
Parent-child duos 196
Phenotypically discordant monozygotic twin pairs 4
Singletons 193

Cohort

Single Ventricle Probands by Fundamental Cardiac Diagnosis
Figure 1. Fundamental cardiac diagnosis distribution among 489 single ventricle probands included in reSOURCE v1.0 with available electronic medical record (EMR) abstraction data.
Single Ventricle Probands by Age at Enrollment
Figure 2. Age distribution among 508 single ventricle probands included in reSOURCE v1.0, based on age at enrollment.

 

Single Ventricle Probands by Current Surgical Status
Figure 3. Current surgical status among 489 single ventricle probands in reSOURCE v1.0 with available electronic medical record (EMR) abstraction data.

 

Selected Clinical Outcomes and Complications Among Single Ventricle Probands
Figure 4. Selected clinical outcomes and complications among single ventricle probands in reSOURCE v1.0. Participants may have more than one outcome; percentages are calculated among SV probands with available data for each measure, so denominators vary. History of stroke includes peri-operative or non-peri-operative. Chylothorax includes post-Glenn or post-Fontan chylothorax.

 

Clinical Outcomes and Complications by Age at Enrollment
Figure 5. Selected clinical outcomes and complications among single ventricle probands in reSOURCE v1.0, stratified by age at enrollment. Percentages are calculated among probands with available data for each outcome within each age group; denominators vary by measure.

Clinical Data

Detailed clinical phenotype data are available for single ventricle participants and include:

  • Fundamental cardiac diagnosis
  • Detailed cardiac anatomy
  • Extracardiac anomalies
  • Major cardiac procedures and interventions
  • Brief cardiac history
  • Additional clinical characteristics and outcomes collected through SOURCE

Clinical data availability and completeness may vary by participant and release.

Genomic Data

Data type
Files/information included in reSOURCE v1.0
Raw sequencing data Paired-end FASTQ files
Aligned sequencing data BAM and index files aligned to GRCh38
Per-sample variant data Filtered and unfiltered VCF files
Per-sample variant calling Per-sample gVCF files
Cohort-level variant data Joint-called cohort VCF
Variant annotations Integrated coding, functional, and regulatory annotations for the cohort joint-called VCF to support variant prioritization and interpretation
Quality control Sample-level sequencing, coverage, quality, and related QC metrics
Ancestry Sample-level ancestry estimates and supporting outputs
Metadata Participant- and sample-level metadata

Data Notes

reSOURCE v1.0 represents the verified release cohort following sample QC, duplicate resolution, genetic relatedness review, and pedigree adjudication.

  • Clinical phenotype data are available for single ventricle participants; genomic and demographic data are available for all participants.
  • Clinical data completeness may vary. In a limited number of cases, electronic medical records could not be obtained; these participants are included in the current release without EMR-derived clinical data.
  • Family structure reflects relatives who were enrolled, genotyped, and included in the release. Participants classified as singletons or as having partial family structures may have additional relatives who were not enrolled or are not represented in the current release.
  • File availability and annotations may evolve between releases.