# 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](https://biodatacatalyst.nhlbi.nih.gov/resources/data) 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](https://cmg.broadinstitute.org/using-seqr) 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.

<table><thead><tr><th width="324">Study Name</th><th width="138">phs I.D. #</th><th width="163">Acronym</th><th width="104">New to BioData Catalyst</th><th>New study version</th></tr></thead><tbody><tr><td>NHLBI TOPMed: Severe Asthma Research Program (SARP)</td><td>phs001446.v3.p2.c1</td><td>topmed-SARP_GRU</td><td>Yes</td><td>No</td></tr><tr><td>NHLBI TOPMed: Severe Asthma Research Program (SARP)</td><td>phs001446.v3.p2.c2</td><td>topmed-SARP_DS-AAI-PUB</td><td>Yes</td><td>No</td></tr><tr><td>NHLBI TOPMed: Pharmacogenomics of Hydroxyurea in Sickle Cell Disease (PharmHU)</td><td>phs001466.v2.p1.c2</td><td>topmed-pharmHU_DS-SCD-RD</td><td>Yes</td><td>No</td></tr><tr><td>NHLBI TOPMed: Pharmacogenomics of Hydroxyurea in Sickle Cell Disease (PharmHU)</td><td>phs001466.v2.p1.c3</td><td>topmed-pharmHU_DS-SCD</td><td>Yes</td><td>No</td></tr><tr><td>Cardiovascular Health Study (CHS) - Imaging</td><td>phs003639.v1.p1.c1</td><td>imaging-img_CHS_HMB-MDS</td><td>Yes</td><td>No</td></tr><tr><td>Cardiovascular Health Study (CHS) - Imaging</td><td>phs003639.v1.p1.c2</td><td>imaging-img_CHS_HMB-NPU-MDS</td><td>Yes</td><td>No</td></tr><tr><td>Cardiovascular Health Study (CHS) - Imaging</td><td>phs003639.v1.p1.c3</td><td>imaging-img_CHS_DS-CVD-MDS</td><td>Yes</td><td>No</td></tr><tr><td>Cardiovascular Health Study (CHS) - Imaging</td><td>phs003639.v1.p1.c4</td><td>imaging-img_CHS_DS-CVD-NPU-MDS</td><td>Yes</td><td>No</td></tr><tr><td>Multi-Ethnic Study of Atherosclerosis (Electrocardiogram Tracing Repository)</td><td>phs003703.v1.p1.c1</td><td>imaging-img_MESA_ECG_HMB</td><td>Yes</td><td>No</td></tr><tr><td>Multi-Ethnic Study of Atherosclerosis (Electrocardiogram Tracing Repository)</td><td>phs003703.v1.p1.c2</td><td>imaging-img_MESA_ECG_HMB-NPU</td><td>Yes</td><td>No</td></tr><tr><td>Sleep Heart Health Study (SHHS-BioLINCC)</td><td>phs003637.v1.p1.c1</td><td>BioLINCC-BL_SHHS_HMB-MDS</td><td>No</td><td>No</td></tr><tr><td>NHLBI TOPMed: Boston Early-Onset COPD Study</td><td>phs000946.v6.p2.c1</td><td>topmed-EOCOPD_DS-CS-RD</td><td>No</td><td>Yes</td></tr><tr><td>NHLBI TOPMed: Cleveland Clinic Atrial Fibrillation (CCAF) Study</td><td>phs001189.v5.p1.c1</td><td>topmed-CCAF_AF_GRU-IRB</td><td>No</td><td>Yes</td></tr><tr><td>NHLBI TOPMed: NHGRI CCDG: AF Biobank LMU in the context of the MED Biobank LMU</td><td>phs001543.v3.p1.c1</td><td>topmed-AFLMU_HMB-IRB-PUB-COL-NPU-MDS</td><td>No</td><td>Yes</td></tr><tr><td>NHLBI TOPMed - NHGRI CCDG: The GENetics in Atrial Fibrillation (GENAF) Study</td><td>phs001547.v3.p1.c1</td><td>topmed-GENAF_HMB-NPU</td><td>No</td><td>Yes</td></tr><tr><td>NHLBI TOPMed: Early-Onset Atrial Fibrillation in the Estonian Biobank</td><td>phs001606.v3.p1.c1</td><td>topmed-EGCUT_GRU</td><td>No</td><td>Yes</td></tr><tr><td>NHLBI TOPMed: NHGRI CCDG: The BioMe Biobank at Mount Sinai</td><td>phs001644.v3.p2.c1</td><td>topmed-BioMe_HMB-NPU</td><td>No</td><td>Yes</td></tr><tr><td>NHLBI TOPMed: Childhood Asthma Management Program (CAMP)</td><td>phs001726.v3.p1.c1</td><td>topmed-CAMP_DS-AST-COPD</td><td>No</td><td>Yes</td></tr><tr><td>Human Liver Cohort (HLC)</td><td>phs000253.v1.p1.c1</td><td>heartfailure-HLC_GRU</td><td>Yes</td><td>No</td></tr><tr><td>NHLBI Exome Sequencing in SCID</td><td>phs000479.v1.p1.c1</td><td>heartfailure-Exome_SCID_GRU</td><td>Yes</td><td>No</td></tr><tr><td>Familial Exome Sequencing in Rare Pediatric Phenotypes</td><td>phs000553.v1.p1.c1</td><td>heartfailure-FamExome_RarePeds_GRU-MDS</td><td>Yes</td><td>No</td></tr><tr><td>PCGC: Congenital Heart Disease Genetic Network Study</td><td>phs000571.v6.p2.c2</td><td>PCGC-CHD-GENES_DS-CHD</td><td>Yes</td><td>No</td></tr><tr><td>NHLBI GO-ESP: Family Studies (Mendelian Lipid Disorders)</td><td>phs000587.v1.p1.c1</td><td>heartfailure-Fam_MLD_DS-CLA</td><td>Yes</td><td>No</td></tr><tr><td>NextGen Consortium: iPS Derived Hepatocytes Study (PhLiPS Study)</td><td>phs001341.v1.p1.c1</td><td>heartfailure-PhLiPS_GRU</td><td>Yes</td><td>No</td></tr><tr><td>Myocardial Applied Genomics Network (MAGNet) Study</td><td>phs001539.v4.p1.c1</td><td>heartfailure-MAGNet_HMB-MDS</td><td>Yes</td><td>No</td></tr><tr><td>Cardiovascular ATVB: Atherosclerosis Thrombosis and Vascular Biology</td><td>phs001592.v1.p1.c1</td><td>heartfailure-CardioATVB_DS-CVD</td><td>Yes</td><td>No</td></tr><tr><td>Profiles of exRNA in CSF and Plasma from Subarachnoid Hemorrhage Patients</td><td>phs001759.v1.p1.c1</td><td>heartfailure-exRNA_CSF_HMB</td><td>Yes</td><td>No</td></tr><tr><td>miRNA Profiling of Maternal and Non-Maternal Healthy Adult Blood Plasma Using Small RNA-Sequencing</td><td>phs001892.v1.p1.c1</td><td>heartfailure-miRNA_Maternal_Plasma_GRU</td><td>Yes</td><td>No</td></tr><tr><td>NHLBI TOPMed: NHGRI CCDG: UCSF Atrial Fibrillation Study</td><td>phs001933.v2.p1.c1</td><td>topmed-UCSF_Afib_HMB-MDS</td><td>Yes</td><td>No</td></tr><tr><td>NIH RECOVER-Pediatric: Understanding the Long-Term Impact of COVID on Children and Families</td><td>phs003461.v1.p1.c1</td><td>RECOVER-RC_Pediatrics_GRU</td><td>Yes</td><td>No</td></tr><tr><td>REDS-IV-P Epidemiology, Surveillance and Preparedness of the Novel SARS-CoV-2 Epidemic (RESPONSE)</td><td>phs003578.v1.p1.c1</td><td>REDS-RESPONSE_GRU</td><td>Yes</td><td>No</td></tr><tr><td>Sudden Cardiac Death in Heart Failure Trial (SCD-HeFT-BioLINCC)</td><td>phs003654.v1.p1.c1</td><td>BioLINCC-BL_SCD-HeFT_GRU</td><td>Yes</td><td>No</td></tr><tr><td>NHLBI TOPMed: Evaluation of COPD Longitudinally to Identify Predictive Surrogate Endpoints (ECLIPSE)</td><td>phs001472.v3.p2.c1</td><td>topmed-ECLIPSE_DS-CS-MDS-RD</td><td>No</td><td>Yes</td></tr><tr><td>NHLBI TOPMed: Characterizing the Response to a Leukotriene Receptor Antagonist and an Inhaled Corticosteroid (CLIC)</td><td>phs001729.v3.p1.c2</td><td>topmed-CARE_CLIC_DS-ASTHMA-IRB-COL</td><td>No</td><td>No</td></tr></tbody></table>

### **Planned Upcoming Data Releases**

<table><thead><tr><th width="328">Study Name</th><th width="141">phs I.D. #</th><th width="156">Acronym</th><th width="105">New to BioData Catalyst</th><th>New study version</th></tr></thead><tbody><tr><td>TRanscriptomic ANalySis of left ventriCulaR gene Expression (TRANSCRibE)</td><td>phs001679.v1.p1.c1</td><td>heartfailure-TRANSCRibE_GRU</td><td>Yes</td><td>No</td></tr><tr><td>TRanscriptomic ANalySis of left ventriCulaR gene Expression (TRANSCRibE)</td><td>phs001679.v1.p1.c2</td><td>heartfailure-TRANSCRibE_DS-CI</td><td>Yes</td><td>No</td></tr><tr><td>Molecular Genetics of Heterotaxy and Related Congenital Heart Defects</td><td>phs001814.v1.p1.c1</td><td>heartfailure-MolGen_CHD_GRU</td><td>Yes</td><td>No</td></tr><tr><td>NHLBI TOPMed: Whole Genome Sequencing of Venous Thromboembolism (WGS of VTE)</td><td>phs001402.v3.p1.c1</td><td>topmed-Mayo_VTE_GRU</td><td>No</td><td>Yes</td></tr><tr><td>NHLBI TOPMed: My Life Our Future (MLOF) Research Repository of Patients with Hemophilia A (Factor VIII Deficiency) or Hemophilia B (Factor IX Deficiency)</td><td>phs001515.v2.p2.c1</td><td>topmed-MLOF_HMB-PUB</td><td>No</td><td>Yes</td></tr><tr><td>NHLBI TOPMed: Trans-Omics for Precision Medicine (TOPMed) Whole Genome Sequencing Project: Cardiovascular Health Study</td><td>phs001368.v4.p2.c1</td><td>topmed-CHS_HMB-NPU-MDS</td><td>No</td><td>Yes</td></tr><tr><td>NHLBI TOPMed: Trans-Omics for Precision Medicine (TOPMed) Whole Genome Sequencing Project: Cardiovascular Health Study</td><td>phs001368.v4.p2.c2</td><td>topmed-CHS_HMB-MDS</td><td>No</td><td>Yes</td></tr><tr><td>NHLBI TOPMed: Trans-Omics for Precision Medicine (TOPMed) Whole Genome Sequencing Project: Cardiovascular Health Study</td><td>phs001368.v4.p2.c3</td><td>topmed-CHS_DS-CVD-NPU-MDS</td><td>No</td><td>Yes</td></tr><tr><td>NHLBI TOPMed: Trans-Omics for Precision Medicine (TOPMed) Whole Genome Sequencing Project: Cardiovascular Health Study</td><td>phs001368.v4.p2.c4</td><td>topmed-CHS_DS-CVD-MDS</td><td>No</td><td>Yes</td></tr><tr><td>NHLBI TOPMed: San Antonio Family Heart Study (SAFHS)</td><td>phs001215.v4.p2.c1</td><td>topmed-SAFHS_DS-DHD-IRB-PUB-MDS-RD</td><td>No</td><td>Yes</td></tr><tr><td>NHLBI TOPMed: The Genetic Epidemiology of Asthma in Costa Rica</td><td>phs000988.v6.p1.c1</td><td>topmed-CRA_DS-ASTHMA-IRB-MDS-RD</td><td>No</td><td>Yes</td></tr><tr><td>NHLBI TOPMed: Pulmonary Fibrosis Whole Genome Sequencing</td><td>phs001607.v3.p2.c1</td><td>topmed-IPF_DS-ILD-IRB-NPU</td><td>No</td><td>Yes</td></tr><tr><td>NHLBI TOPMed: Pulmonary Fibrosis Whole Genome Sequencing</td><td>phs001607.v3.p2.c2</td><td>topmed-IPF_DS-LD-IRB-NPU</td><td>No</td><td>Yes</td></tr><tr><td>NHLBI TOPMed: Pulmonary Fibrosis Whole Genome Sequencing</td><td>phs001607.v3.p2.c3</td><td>topmed-IPF_DS-PFIB-IRB-NPU</td><td>No</td><td>Yes</td></tr><tr><td>NHLBI TOPMed: Pulmonary Fibrosis Whole Genome Sequencing</td><td>phs001607.v3.p2.c4</td><td>topmed-IPF_DS-PUL-ILD-IRB-NPU</td><td>No</td><td>Yes</td></tr><tr><td>NHLBI TOPMed: Pulmonary Fibrosis Whole Genome Sequencing</td><td>phs001607.v3.p2.c5</td><td>topmed-IPF_HMB-IRB-NPU</td><td>No</td><td>Yes</td></tr><tr><td>NHLBI TOPMed: Pulmonary Fibrosis Whole Genome Sequencing</td><td>phs001607.v3.p2.c6</td><td>topmed-IPF_DS-LD-IRB-COL-NPU</td><td>No</td><td>Yes</td></tr><tr><td>NIH RECOVER: A Multi-Site Observational Study of Post-Acute Sequelae of SARS-CoV-2 Infection in Adults</td><td>phs003463.v2.p2.c1</td><td>RECOVER-RC_Adult_GRU</td><td>No</td><td>Yes</td></tr><tr><td>NHLBI TOPMed: Women's Health Initiative (WHI)</td><td>phs001237.v3.p1.c1</td><td>topmed-WHI_HMB-IRB</td><td>No</td><td>Yes</td></tr><tr><td>NHLBI TOPMed: Women's Health Initiative (WHI)</td><td>phs001237.v3.p1.c2</td><td>topmed-WHI_HMB-IRB-NPU</td><td>No</td><td>Yes</td></tr><tr><td>NHLBI TOPMed: Genomic Activities such as Whole Genome Sequencing and Related Phenotypes in the Framingham Heart Study</td><td>phs000974.v5.p4.c1</td><td>topmed-FHS_HMB-IRB-MDS</td><td>No</td><td>Yes</td></tr><tr><td>NHLBI TOPMed: Genomic Activities such as Whole Genome Sequencing and Related Phenotypes in the Framingham Heart Study</td><td>phs000974.v5.p4.c2</td><td>topmed-FHS_HMB-IRB-NPU-MDS</td><td>No</td><td>Yes</td></tr><tr><td>NHLBI TOPMed - NHGRI CCDG: Atherosclerosis Risk in Communities (ARIC)</td><td>phs001211.v4.p3.c1</td><td>topmed-ARIC_HMB-IRB</td><td>No</td><td>Yes</td></tr><tr><td>NHLBI TOPMed - NHGRI CCDG: Atherosclerosis Risk in Communities (ARIC)</td><td>phs001211.v4.p3.c2</td><td>topmed-ARIC_DS-CVD-IRB</td><td>No</td><td>Yes</td></tr><tr><td>NHLBI TOPMed: MESA and MESA Family AA-CAC</td><td>phs001416.v3.p1.c1</td><td>topmed-MESA_HMB</td><td>No</td><td>Yes</td></tr><tr><td>NHLBI TOPMed: MESA and MESA Family AA-CAC</td><td>phs001416.v3.p1.c2</td><td>topmed-MESA_HMB-NPU</td><td>No</td><td>Yes</td></tr><tr><td>NHLBI TOPMed: Pediatric Cardiac Genomics Consortium (PCGC)'s Congenital Heart Disease Biobank</td><td>phs001735.v2.p1.c1</td><td>topmed-PCGC_HMB</td><td>No</td><td>Yes</td></tr><tr><td>NHLBI TOPMed: Study of African Americans, Asthma, Genes and Environment (SAGE)</td><td>phs000921.v5.p2.c2</td><td>topmed-SAGE_DS-LD-IRB-COL</td><td>No</td><td>Yes</td></tr><tr><td>NHLBI TOPMed - NHGRI CCDG: Genes-Environments and Admixture in Latino Asthmatics (GALA II)</td><td>phs000920.v6.p4.c2</td><td>topmed-GALAII_DS-LD-IRB-COL</td><td>No</td><td>Yes</td></tr><tr><td>NHLBI TOPMed: Pulmonary Fibrosis Whole Genome Sequencing</td><td>phs001607.v3.p2.c1</td><td>topmed-IPF_HMB-IRB-NPU</td><td>No</td><td>Yes</td></tr><tr><td>NHLBI TOPMed: Pulmonary Fibrosis Whole Genome Sequencing</td><td>phs001607.v3.p2.c2</td><td>topmed-IPF_DS-LD-IRB-NPU</td><td>No</td><td>Yes</td></tr><tr><td>NHLBI TOPMed: Pulmonary Fibrosis Whole Genome Sequencing</td><td>phs001607.v3.p2.c3</td><td>topmed-IPF_DS-ILD-IRB-NPU</td><td>No</td><td>Yes</td></tr><tr><td>NHLBI TOPMed: Pulmonary Fibrosis Whole Genome Sequencing</td><td>phs001607.v3.p2.c4</td><td>topmed-IPF_DS-PFIB-IRB-NPU</td><td>No</td><td>Yes</td></tr><tr><td>NHLBI TOPMed: Pulmonary Fibrosis Whole Genome Sequencing</td><td>phs001607.v3.p2.c5</td><td>topmed-IPF_DS-PUL-ILD-IRB-NPU</td><td>No</td><td>Yes</td></tr><tr><td>The Collaborative Cohort of Cohorts for COVID-19 Research (C4R)</td><td>phs003045.v1.p1.c1</td><td>COVID19-C4R_CARDIA_HMB</td><td>Yes</td><td>No</td></tr><tr><td>The Collaborative Cohort of Cohorts for COVID-19 Research (C4R)</td><td>phs003045.v1.p1.c2</td><td>COVID19-C4R_CARDIA_HMB-NPU</td><td>Yes</td><td>No</td></tr><tr><td>Collaborative Cohort of Cohorts for COVID-19 Research (C4R): Subpopulations and Intermediate Outcome Measures in COPD Study (SPIROMICS)</td><td>phs002909.v1.p1.c1</td><td>COVID19-C4R_SPIROMICS_GRU</td><td>Yes</td><td>No</td></tr><tr><td>Collaborative Cohort of Cohorts for COVID-19 Research (C4R): Subpopulations and Intermediate Outcome Measures in COPD Study (SPIROMICS)</td><td>phs002909.v1.p1.c2</td><td>COVID19-C4R_SPIROMICS_GRU_NPU</td><td>Yes</td><td>No</td></tr><tr><td>Collaborative Cohort of Cohorts for COVID-19 Research (C4R): Subpopulations and Intermediate Outcome Measures in COPD Study (SPIROMICS)</td><td>phs002909.v1.p1.c3</td><td>COVID19-C4R_SPIROMICS_COPD</td><td>Yes</td><td>No</td></tr><tr><td>Collaborative Cohort of Cohorts for COVID-19 Research (C4R): Subpopulations and Intermediate Outcome Measures in COPD Study (SPIROMICS)</td><td>phs002909.v1.p1.c4</td><td>COVID19-C4R_SPIROMICS_COPD_NPU</td><td>Yes</td><td>No</td></tr><tr><td>Collaborative Cohort of Cohorts for COVID-19 Research (C4R): Subpopulations and Intermediate Outcome Measures in COPD Study (SPIROMICS)</td><td>phs002909.v1.p1.c5</td><td>COVID19-C4R_SPIROMICS_GRU_COL</td><td>Yes</td><td>No</td></tr><tr><td>Collaborative Cohort of Cohorts for COVID-19 Research (C4R): Subpopulations and Intermediate Outcome Measures in COPD Study (SPIROMICS)</td><td>phs002909.v1.p1.c6</td><td>COVID19-C4R_SPIROMICS_GRU-NPU-COL</td><td>Yes</td><td>No</td></tr><tr><td>Collaborative Cohort of Cohorts for COVID-19 Research (C4R): Subpopulations and Intermediate Outcome Measures in COPD Study (SPIROMICS)</td><td>phs002909.v1.p1.c7</td><td>COVID19-C4R_SPIROMICS_COPD-COL</td><td>Yes</td><td>No</td></tr><tr><td>Collaborative Cohort of Cohorts for COVID-19 Research (C4R): Subpopulations and Intermediate Outcome Measures in COPD Study (SPIROMICS)</td><td>phs002909.v1.p1.c8</td><td>COVID19-C4R_SPIROMICS_COPD-NPU-COL</td><td>Yes</td><td>No</td></tr><tr><td>Collaborative Cohort of Cohorts for COVID-19 Research (C4R): Multi-Ethnic Study of Atherosclerosis (MESA)</td><td>phs003017.v1.p1.c1</td><td>COVID19-C4R_MESA_HMB</td><td>Yes</td><td>No</td></tr><tr><td>Collaborative Cohort of Cohorts for COVID-19 Research (C4R): Multi-Ethnic Study of Atherosclerosis (MESA)</td><td>phs003017.v1.p1.c2</td><td>COVID19-C4R_MESA_HMB-NPU</td><td>Yes</td><td>No</td></tr></tbody></table>

### **For detailed platform release notes please consult the following resources:**

*BDC Powered by Gen3* release notes\
[*BDC Powered by Terra* release notes](https://support.terra.bio/hc/en-us/categories/360000693572)\
[*BDC Powered by Seven Bridges* release notes](https://sb-biodatacatalyst.readme.io/blog)\
[*BDC Powered by PIC-SURE* release notes](https://pic-sure.gitbook.io/nhlbi-biodata-catalyst-r-powered-by-pic-sure/release-notes/release-notes)