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• Cognitively Affected DMD Patients have Unique Methylation Signatures Compared to Cognitively Normal DMD Patients

  The overarching goal of this project was to identify changes in methylation patterns in Duchenne muscular dystrophy (DMD) patients with discordant symptoms using whole genome bisulfite sequencing (WGBS) from genomic DNA isolated from whole serum. DMD siblings (biological brothers) had the same genetic mutation in the dystrophin gene but with discordance in symptoms such as ambulation, cardiopulmonary function, and cognition. Trios (DMD sibling brothers and biological mother or father) and quartets (DMD sibling brothers and biological mother and father) were recruited for this study for intra- and inter-familial comparisons of the methylation of gene bodies.

  Study phs003118

• Genetics of Eating Disorders

  This genetic study examines Anorexia Nervosa, Bulimia Nervosa, and Binge Eating Disorder. We performed whole exome sequencing (WES) on 93 unrelated individuals with eating disorders (38 restricted-eating, 55 binge-eating) to identify novel damaging variants. Using an unbiased, data-driven approach, we prioritized candidate genes with an excessive burden of predicted damaging variants. We then empirically tested one top candidate pathway in a mouse model of binge-like eating. We identified an excess of novel damaging variants in 186 genes in the restricted-eating group and 245 genes in the binge-eating group. The list of genes significantly enriched (OR = 4.6, p

  Study phs001414

• Rapid Acceleration of Diagnostics - Underserved Populations (RADx-UP) Collection of General Research Use Datasets

  This individual-level collection of datasets contains all the RADx Underserved Populations (RADx-UP) studies in dbGaP for General Research Use (GRU) and have no further limitations beyond those outlined in the model RADx Data Use Certification Agreement. Access to this study collection will include additional authorized individual-level GRU datasets that become available. Renewal of this study collection is required annually. Access to studies in this collection is on the RADx® Data Hub. To request access to this study collection, select phs003832 in the dbGaP when submitting a data access request.

  Study phs003832

• Rapid Acceleration of Diagnostics - Tech Program (RADx-Tech) Collection of General Research Use Datasets

  This individual-level collection of datasets contains all the RADx® Tech Programs (RADx-Tech) studies in dbGaP for General Research Use (GRU) and have no further limitations beyond those outlined in the model RADx Data Use Certification Agreement. Access to this study collection will include additional authorized individual-level GRU datasets that become available. Renewal of this study collection is required annually. Access to studies in this collection is on the RADx® Data Hub. To request access to this study collection, select phs003831 in the dbGaP when submitting a data access request.

  Study phs003831

• Rapid Acceleration of Diagnostics - Radical (RADx-rad) Collection of General Research Use Datasets

  This individual-level collection of datasets contains all the RADx® Radical (RADx-rad) studies in dbGaP for General Research Use (GRU) and have no further limitations beyond those outlined in the model RADx Data Use Certification Agreement. Access to this study collection will include additional authorized individual-level GRU datasets that become available. Renewal of this study collection is required annually. Access to studies in this collection is on the RADx® Data Hub. To request access to this study collection, select phs003834 in the dbGaP when submitting a data access request.

  Study phs003834

• Addiction of Primary Cutaneous Gamma-Delta T-cell Lymphomas to JAK-STAT Signaling

  Primary cutaneous γδ T-cell lymphoma (PCGDTL) is a mature T-cell lymphoma (TCL) of the skin with a median survival of 31 months and no effective therapies. PCGDTLs frequently possess mutations in the JAK/STAT pathway, including in JAK1, JAK3, STAT3, STAT5B, and SOCS1. We hypothesized that single-agent JAK inhibition may be effective in PCGDTLs, particularly those with targetable JAK/STAT pathway mutations. Herein, we demonstrate the near-complete response of two PCGDTL cases to single-agent JAK inhibitors, ruxolitinib or cerdulatinib. However, both patients eventually relapsed with acquired mutations in JAK1, JAK3, or STAT5B.

  Study phs003837

• dbGaP Collection: Psychiatric Genomics Consortium (PGC) dbGaP Datasets

  This dbGaP Collection includes cases and controls used in the GWAS meta-analysis of neuropsychiatric phenotypes studied by investigators in the Psychiatric Genomics Consortium including major depression, bipolar disorder, attention deficit and hyperactivity disorder, schizophrenia, Tourette Syndrome, and obsessive-compulsive disorder. The consent type for data sets includes general research use as well as phenotype-specific restricted usage. This dbGaP collection was created to facilitate identification of datasets used in PGC analyses in order to expedite the application and ascertainment process for PGC members wishing to access data within the consortium. Non-PGC members may also apply for this dbGaP collection.

  Study phs001254

• Comparison of transcriptomics profile of stem cell-derived beta cells from HUES8 and RC9

  Stem cell-derived islet cells have a potential to be used to restore endogenous insulin production in people with diabetes. The goal of this experiment is to compare the transcriptomics profile of stem-cell derived beta cells from two different cell lines: HUES8 (non-clinical grade) and RC9 (clinical grade) in terms of beta cell identity and maturity. Stem cell-derived islets were produced using differentiation protocol detailed in Rajaei et al. 2025 (manuscript approved in Science Translational Medicine, pending pubmed ID). Single cell transcriptomics data were generated using 10x Genomics 3' Single Cell Gene Expression kit.

  Study EGAS50000000905

• Changes in AXL and/or MITF melanoma subpopulations in patients receiving immunotherapy

  Our data demonstrate large interpatient variability and variable therapy-induced changes independent of the type of therapy. We identify the presence of previously described AXL+ and MITF+ subpopulations in metastatic tissues both at the mRNA level and in situ at the protein level, and demonstrate that MITF+ melanoma cells are significantly decreased upon immunotherapy, while AXL+ melanoma cell numbers are stable. MITF+ tumor cells showed the most significant inverse correlation with CD8+ T cells. Our patient cohort also shows that immunotherapy-induced changes in the abundance of AXL+ or MITF+ tumor cells did not correlate with improved survival.

  Study EGAS50000001080

• High Sensitivity ctDNA Analysis Using a Novel Panel and NOIR-SS Technology for Monitoring Advanced Urothelial Carcinoma

  This dataset contains sequencing data generated by targeted amplicon analysis using the NOIR-SS method in 15 patients with advanced urothelial carcinoma. Formalin-fixed paraffin-embedded (FFPE) tumor tissues (15 samples) and plasma cfDNA (50 samples) were analyzed. Tumor tissues were subjected to targeted panel sequencing to identify mutations in TP53, FGFR3, TERT, and KRAS/HRAS. Plasma cfDNA was analyzed using a tumor-informed approach focusing on the mutations identified in matched tumor tissues. Sequencing was performed on the Ion PGM or Ion S5 XL platform. Raw sequencing data are provided in FASTQ format under controlled access.

  Study JGAS000836