2024-10-21 NHLBI BioData Catalyst Ecosystem Release Notes
Introduction
The 2024-10-21 release marks the 19th release for the NHLBI BioData Catalyst® (BDC) ecosystem. This release includes several new features (e.g., supporting seqr genomics analysis, and exporting selected cohort data in PFB format). Please find more detail on the new features in the sections below.
The 2024-10-21 data releases include the addition of studies on asthma and sickle cell disease, plus new imaging from cardiovascular and atherosclerosis studies. Updates are highlighted for COPD, atrial fibrillation, and childhood asthma studies, and new additions include liver disease, myocardial genomics, and exRNA studies. The release also introduces the RECOVER-Pediatric project and the REDS-IV-P Epidemiology of COVID-19 study. Please refer to the Data Releases section below for more information as well as the Data page on the BDC website.
Significant new features
BDC Powered by Terra (BDC-Terra) now supports seqr genomics analysis: seqr provides rich gene and variant-level annotations and powerful filtration tools to perform variant searches within a family or across projects. To get started, check out the video tutorials, including a video describing how to load your data in seqr.
Export selected cohort data in Portable Format for Biomedical Data (PFB): BDC Powered by PIC-SURE (BDC-PIC-SURE) now allows researchers to export selected participant-level data in PFB file format. When using the Select and Package Data tool in Authorized PIC-SURE, simply choose “Package Data as PFB” to export in this file format.
Data Releases
The table below highlights which studies were included in the 2024-10-21 data release.
The latest release features NHLBI TOPMed projects such as the Severe Asthma Research Program (SARP) and Pharmacogenomics of Hydroxyurea in Sickle Cell Disease (PharmHU). Additionally, it includes new imaging XML schemas from the Cardiovascular Health Study (CHS) and the Multi-Ethnic Study of Atherosclerosis. Updates are also highlighted in the Boston Early-Onset COPD Study, Cleveland Clinic Atrial Fibrillation Study, and the Childhood Asthma Management Program (CAMP). New additions include the Human Liver Cohort and studies on myocardial genomics and exRNA profiles. The release also introduces the RECOVER-Pediatric project and the REDS-IV-P Epidemiology of COVID-19 study.
The data is now available for access across the entire ecosystem.
NHLBI TOPMed: Severe Asthma Research Program (SARP)
phs001446.v3.p2.c1
topmed-SARP_GRU
Yes
No
NHLBI TOPMed: Severe Asthma Research Program (SARP)
phs001446.v3.p2.c2
topmed-SARP_DS-AAI-PUB
Yes
No
NHLBI TOPMed: Pharmacogenomics of Hydroxyurea in Sickle Cell Disease (PharmHU)
phs001466.v2.p1.c2
topmed-pharmHU_DS-SCD-RD
Yes
No
NHLBI TOPMed: Pharmacogenomics of Hydroxyurea in Sickle Cell Disease (PharmHU)
phs001466.v2.p1.c3
topmed-pharmHU_DS-SCD
Yes
No
Cardiovascular Health Study (CHS) - Imaging
phs003639.v1.p1.c1
imaging-img_CHS_HMB-MDS
Yes
No
Cardiovascular Health Study (CHS) - Imaging
phs003639.v1.p1.c2
imaging-img_CHS_HMB-NPU-MDS
Yes
No
Cardiovascular Health Study (CHS) - Imaging
phs003639.v1.p1.c3
imaging-img_CHS_DS-CVD-MDS
Yes
No
Cardiovascular Health Study (CHS) - Imaging
phs003639.v1.p1.c4
imaging-img_CHS_DS-CVD-NPU-MDS
Yes
No
Multi-Ethnic Study of Atherosclerosis (Electrocardiogram Tracing Repository)
phs003703.v1.p1.c1
imaging-img_MESA_ECG_HMB
Yes
No
Multi-Ethnic Study of Atherosclerosis (Electrocardiogram Tracing Repository)
phs003703.v1.p1.c2
imaging-img_MESA_ECG_HMB-NPU
Yes
No
Sleep Heart Health Study (SHHS-BioLINCC)
phs003637.v1.p1.c1
BioLINCC-BL_SHHS_HMB-MDS
No
No
NHLBI TOPMed: Boston Early-Onset COPD Study
phs000946.v6.p2.c1
topmed-EOCOPD_DS-CS-RD
No
Yes
NHLBI TOPMed: Cleveland Clinic Atrial Fibrillation (CCAF) Study
phs001189.v5.p1.c1
topmed-CCAF_AF_GRU-IRB
No
Yes
NHLBI TOPMed: NHGRI CCDG: AF Biobank LMU in the context of the MED Biobank LMU
phs001543.v3.p1.c1
topmed-AFLMU_HMB-IRB-PUB-COL-NPU-MDS
No
Yes
NHLBI TOPMed - NHGRI CCDG: The GENetics in Atrial Fibrillation (GENAF) Study
phs001547.v3.p1.c1
topmed-GENAF_HMB-NPU
No
Yes
NHLBI TOPMed: Early-Onset Atrial Fibrillation in the Estonian Biobank
phs001606.v3.p1.c1
topmed-EGCUT_GRU
No
Yes
NHLBI TOPMed: NHGRI CCDG: The BioMe Biobank at Mount Sinai
phs001644.v3.p2.c1
topmed-BioMe_HMB-NPU
No
Yes
NHLBI TOPMed: Childhood Asthma Management Program (CAMP)
phs001726.v3.p1.c1
topmed-CAMP_DS-AST-COPD
No
Yes
Human Liver Cohort (HLC)
phs000253.v1.p1.c1
heartfailure-HLC_GRU
Yes
No
NHLBI Exome Sequencing in SCID
phs000479.v1.p1.c1
heartfailure-Exome_SCID_GRU
Yes
No
Familial Exome Sequencing in Rare Pediatric Phenotypes
phs000553.v1.p1.c1
heartfailure-FamExome_RarePeds_GRU-MDS
Yes
No
PCGC: Congenital Heart Disease Genetic Network Study
phs000571.v6.p2.c2
PCGC-CHD-GENES_DS-CHD
Yes
No
NHLBI GO-ESP: Family Studies (Mendelian Lipid Disorders)
phs000587.v1.p1.c1
heartfailure-Fam_MLD_DS-CLA
Yes
No
NextGen Consortium: iPS Derived Hepatocytes Study (PhLiPS Study)
phs001341.v1.p1.c1
heartfailure-PhLiPS_GRU
Yes
No
Myocardial Applied Genomics Network (MAGNet) Study
phs001539.v4.p1.c1
heartfailure-MAGNet_HMB-MDS
Yes
No
Cardiovascular ATVB: Atherosclerosis Thrombosis and Vascular Biology
phs001592.v1.p1.c1
heartfailure-CardioATVB_DS-CVD
Yes
No
Profiles of exRNA in CSF and Plasma from Subarachnoid Hemorrhage Patients
phs001759.v1.p1.c1
heartfailure-exRNA_CSF_HMB
Yes
No
miRNA Profiling of Maternal and Non-Maternal Healthy Adult Blood Plasma Using Small RNA-Sequencing
phs001892.v1.p1.c1
heartfailure-miRNA_Maternal_Plasma_GRU
Yes
No
NHLBI TOPMed: NHGRI CCDG: UCSF Atrial Fibrillation Study
phs001933.v2.p1.c1
topmed-UCSF_Afib_HMB-MDS
Yes
No
NIH RECOVER-Pediatric: Understanding the Long-Term Impact of COVID on Children and Families
phs003461.v1.p1.c1
RECOVER-RC_Pediatrics_GRU
Yes
No
REDS-IV-P Epidemiology, Surveillance and Preparedness of the Novel SARS-CoV-2 Epidemic (RESPONSE)
phs003578.v1.p1.c1
REDS-RESPONSE_GRU
Yes
No
Sudden Cardiac Death in Heart Failure Trial (SCD-HeFT-BioLINCC)
phs003654.v1.p1.c1
BioLINCC-BL_SCD-HeFT_GRU
Yes
No
NHLBI TOPMed: Evaluation of COPD Longitudinally to Identify Predictive Surrogate Endpoints (ECLIPSE)
phs001472.v3.p2.c1
topmed-ECLIPSE_DS-CS-MDS-RD
No
Yes
NHLBI TOPMed: Characterizing the Response to a Leukotriene Receptor Antagonist and an Inhaled Corticosteroid (CLIC)
phs001729.v3.p1.c2
topmed-CARE_CLIC_DS-ASTHMA-IRB-COL
No
No
Planned Upcoming Data Releases
TRanscriptomic ANalySis of left ventriCulaR gene Expression (TRANSCRibE)
phs001679.v1.p1.c1
heartfailure-TRANSCRibE_GRU
Yes
No
TRanscriptomic ANalySis of left ventriCulaR gene Expression (TRANSCRibE)
phs001679.v1.p1.c2
heartfailure-TRANSCRibE_DS-CI
Yes
No
Molecular Genetics of Heterotaxy and Related Congenital Heart Defects
phs001814.v1.p1.c1
heartfailure-MolGen_CHD_GRU
Yes
No
NHLBI TOPMed: Whole Genome Sequencing of Venous Thromboembolism (WGS of VTE)
phs001402.v3.p1.c1
topmed-Mayo_VTE_GRU
No
Yes
NHLBI TOPMed: My Life Our Future (MLOF) Research Repository of Patients with Hemophilia A (Factor VIII Deficiency) or Hemophilia B (Factor IX Deficiency)
phs001515.v2.p2.c1
topmed-MLOF_HMB-PUB
No
Yes
NHLBI TOPMed: Trans-Omics for Precision Medicine (TOPMed) Whole Genome Sequencing Project: Cardiovascular Health Study
phs001368.v4.p2.c1
topmed-CHS_HMB-NPU-MDS
No
Yes
NHLBI TOPMed: Trans-Omics for Precision Medicine (TOPMed) Whole Genome Sequencing Project: Cardiovascular Health Study
phs001368.v4.p2.c2
topmed-CHS_HMB-MDS
No
Yes
NHLBI TOPMed: Trans-Omics for Precision Medicine (TOPMed) Whole Genome Sequencing Project: Cardiovascular Health Study
phs001368.v4.p2.c3
topmed-CHS_DS-CVD-NPU-MDS
No
Yes
NHLBI TOPMed: Trans-Omics for Precision Medicine (TOPMed) Whole Genome Sequencing Project: Cardiovascular Health Study
phs001368.v4.p2.c4
topmed-CHS_DS-CVD-MDS
No
Yes
NHLBI TOPMed: San Antonio Family Heart Study (SAFHS)
phs001215.v4.p2.c1
topmed-SAFHS_DS-DHD-IRB-PUB-MDS-RD
No
Yes
NHLBI TOPMed: The Genetic Epidemiology of Asthma in Costa Rica
phs000988.v6.p1.c1
topmed-CRA_DS-ASTHMA-IRB-MDS-RD
No
Yes
NHLBI TOPMed: Pulmonary Fibrosis Whole Genome Sequencing
phs001607.v3.p2.c1
topmed-IPF_DS-ILD-IRB-NPU
No
Yes
NHLBI TOPMed: Pulmonary Fibrosis Whole Genome Sequencing
phs001607.v3.p2.c2
topmed-IPF_DS-LD-IRB-NPU
No
Yes
NHLBI TOPMed: Pulmonary Fibrosis Whole Genome Sequencing
phs001607.v3.p2.c3
topmed-IPF_DS-PFIB-IRB-NPU
No
Yes
NHLBI TOPMed: Pulmonary Fibrosis Whole Genome Sequencing
phs001607.v3.p2.c4
topmed-IPF_DS-PUL-ILD-IRB-NPU
No
Yes
NHLBI TOPMed: Pulmonary Fibrosis Whole Genome Sequencing
phs001607.v3.p2.c5
topmed-IPF_HMB-IRB-NPU
No
Yes
NHLBI TOPMed: Pulmonary Fibrosis Whole Genome Sequencing
phs001607.v3.p2.c6
topmed-IPF_DS-LD-IRB-COL-NPU
No
Yes
NIH RECOVER: A Multi-Site Observational Study of Post-Acute Sequelae of SARS-CoV-2 Infection in Adults
phs003463.v2.p2.c1
RECOVER-RC_Adult_GRU
No
Yes
NHLBI TOPMed: Women's Health Initiative (WHI)
phs001237.v3.p1.c1
topmed-WHI_HMB-IRB
No
Yes
NHLBI TOPMed: Women's Health Initiative (WHI)
phs001237.v3.p1.c2
topmed-WHI_HMB-IRB-NPU
No
Yes
NHLBI TOPMed: Genomic Activities such as Whole Genome Sequencing and Related Phenotypes in the Framingham Heart Study
phs000974.v5.p4.c1
topmed-FHS_HMB-IRB-MDS
No
Yes
NHLBI TOPMed: Genomic Activities such as Whole Genome Sequencing and Related Phenotypes in the Framingham Heart Study
phs000974.v5.p4.c2
topmed-FHS_HMB-IRB-NPU-MDS
No
Yes
NHLBI TOPMed - NHGRI CCDG: Atherosclerosis Risk in Communities (ARIC)
phs001211.v4.p3.c1
topmed-ARIC_HMB-IRB
No
Yes
NHLBI TOPMed - NHGRI CCDG: Atherosclerosis Risk in Communities (ARIC)
phs001211.v4.p3.c2
topmed-ARIC_DS-CVD-IRB
No
Yes
NHLBI TOPMed: MESA and MESA Family AA-CAC
phs001416.v3.p1.c1
topmed-MESA_HMB
No
Yes
NHLBI TOPMed: MESA and MESA Family AA-CAC
phs001416.v3.p1.c2
topmed-MESA_HMB-NPU
No
Yes
NHLBI TOPMed: Pediatric Cardiac Genomics Consortium (PCGC)'s Congenital Heart Disease Biobank
phs001735.v2.p1.c1
topmed-PCGC_HMB
No
Yes
NHLBI TOPMed: Study of African Americans, Asthma, Genes and Environment (SAGE)
phs000921.v5.p2.c2
topmed-SAGE_DS-LD-IRB-COL
No
Yes
NHLBI TOPMed - NHGRI CCDG: Genes-Environments and Admixture in Latino Asthmatics (GALA II)
phs000920.v6.p4.c2
topmed-GALAII_DS-LD-IRB-COL
No
Yes
NHLBI TOPMed: Pulmonary Fibrosis Whole Genome Sequencing
phs001607.v3.p2.c1
topmed-IPF_HMB-IRB-NPU
No
Yes
NHLBI TOPMed: Pulmonary Fibrosis Whole Genome Sequencing
phs001607.v3.p2.c2
topmed-IPF_DS-LD-IRB-NPU
No
Yes
NHLBI TOPMed: Pulmonary Fibrosis Whole Genome Sequencing
phs001607.v3.p2.c3
topmed-IPF_DS-ILD-IRB-NPU
No
Yes
NHLBI TOPMed: Pulmonary Fibrosis Whole Genome Sequencing
phs001607.v3.p2.c4
topmed-IPF_DS-PFIB-IRB-NPU
No
Yes
NHLBI TOPMed: Pulmonary Fibrosis Whole Genome Sequencing
phs001607.v3.p2.c5
topmed-IPF_DS-PUL-ILD-IRB-NPU
No
Yes
The Collaborative Cohort of Cohorts for COVID-19 Research (C4R)
phs003045.v1.p1.c1
COVID19-C4R_CARDIA_HMB
Yes
No
The Collaborative Cohort of Cohorts for COVID-19 Research (C4R)
phs003045.v1.p1.c2
COVID19-C4R_CARDIA_HMB-NPU
Yes
No
Collaborative Cohort of Cohorts for COVID-19 Research (C4R): Subpopulations and Intermediate Outcome Measures in COPD Study (SPIROMICS)
phs002909.v1.p1.c1
COVID19-C4R_SPIROMICS_GRU
Yes
No
Collaborative Cohort of Cohorts for COVID-19 Research (C4R): Subpopulations and Intermediate Outcome Measures in COPD Study (SPIROMICS)
phs002909.v1.p1.c2
COVID19-C4R_SPIROMICS_GRU_NPU
Yes
No
Collaborative Cohort of Cohorts for COVID-19 Research (C4R): Subpopulations and Intermediate Outcome Measures in COPD Study (SPIROMICS)
phs002909.v1.p1.c3
COVID19-C4R_SPIROMICS_COPD
Yes
No
Collaborative Cohort of Cohorts for COVID-19 Research (C4R): Subpopulations and Intermediate Outcome Measures in COPD Study (SPIROMICS)
phs002909.v1.p1.c4
COVID19-C4R_SPIROMICS_COPD_NPU
Yes
No
Collaborative Cohort of Cohorts for COVID-19 Research (C4R): Subpopulations and Intermediate Outcome Measures in COPD Study (SPIROMICS)
phs002909.v1.p1.c5
COVID19-C4R_SPIROMICS_GRU_COL
Yes
No
Collaborative Cohort of Cohorts for COVID-19 Research (C4R): Subpopulations and Intermediate Outcome Measures in COPD Study (SPIROMICS)
phs002909.v1.p1.c6
COVID19-C4R_SPIROMICS_GRU-NPU-COL
Yes
No
Collaborative Cohort of Cohorts for COVID-19 Research (C4R): Subpopulations and Intermediate Outcome Measures in COPD Study (SPIROMICS)
phs002909.v1.p1.c7
COVID19-C4R_SPIROMICS_COPD-COL
Yes
No
Collaborative Cohort of Cohorts for COVID-19 Research (C4R): Subpopulations and Intermediate Outcome Measures in COPD Study (SPIROMICS)
phs002909.v1.p1.c8
COVID19-C4R_SPIROMICS_COPD-NPU-COL
Yes
No
Collaborative Cohort of Cohorts for COVID-19 Research (C4R): Multi-Ethnic Study of Atherosclerosis (MESA)
phs003017.v1.p1.c1
COVID19-C4R_MESA_HMB
Yes
No
Collaborative Cohort of Cohorts for COVID-19 Research (C4R): Multi-Ethnic Study of Atherosclerosis (MESA)
phs003017.v1.p1.c2
COVID19-C4R_MESA_HMB-NPU
Yes
No
For detailed platform release notes please consult the following resources:
BDC Powered by Gen3 release notes BDC Powered by Terra release notes BDC Powered by Seven Bridges release notes BDC Powered by PIC-SURE release notes
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