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• DAC for Vitiligo studies from Immunology-Dermatology unit (CHU Bordeaux)

  Dac EGAC50000000773

• SickKids_Cancer Molecular Diagnostics

  Cancer Molecular Diagnostics at Hospital for Sick Children

  Dac EGAC50000000375

• Validation of a targeted sequencing panel for multiple myeloma

  Study EGAS00001006164

• EGAD00010000622

  SNP array data for gastric cancer cell lines

  Dataset EGAD00010000622

• Hepatoblastoma tumoroid biobank as a key resource for tumour genetics

  Study EGAS00001008251

• Genomic Sequencing of Pediatric Rhaboid Cancers

  In this study, we sequenced the exomes of 35 rhabdoid tumors, highly aggressive cancers of early childhood. This study is part of a larger effort to characterize pediatric cancers as part of the Slim Initiative for Genomic Medicine (SIGMA) project.

  Study phs000508

• Blood Handling and Leukocyte Isolation Methods Impact the Global Transcriptome of Immune Cells

  In order to characterize the effects of upstream sample handling on the transcriptome of isolated leukocyte populations, we simulated various sample handling methods on whole blood prior to leukocyte isolation for low-input RNA-sequencing.

  Study phs001563

• Ultrasensitive Profiling of UV Mutations in Facial Tumors in TSC

  In this study we searched for mutations in the TSC2 and TP53 genes in sample sets from individuals with Tuberous Sclerosis Complex (TSC) and from subjects without TSC. The study was focused on the analysis of TSC facial angiofibroma.

  Study phs002914

• Whole Exome Sequencing of Parathyroid Cancer Identifies Candidate Driver Mutations and Core Pathways

  Here we performed genomic characterization of twenty-nine sporadic parathyroid cancers using next generation whole exome sequencing. Thirty-three novel candidate driver genes for sporadic parathyroid cancer were proposed, in addition to previously known driver genes CDC73 and MEN1.

  Study phs001765

• The Normal Human Tissue Sequencing Project: Non-Diseased, Non-Malignant Tissues

  The Normal Human Tissue Sequencing Project provides RNA expression and DNA methylation data from normal (non-diseased) human tissues. This data set from a variety of source tissue is a valuable resource for human disease studies.

  Study phs000819

• Systematic Analysis of Coding and Non-coding Elements in Developmental Pathways Implicated in Holoprosencephaly Pathogenesis

  We applied targeted capture to examine 153 genes representative of all the major vertebrate developmental pathways among 340 probands and 285 of their unaffected parents to rank their relative significance as causes for holoprosencephaly (HPE).

  Study phs001653

• Germline Genetic Variants in Cancer-Susceptibility Genes in Patients with Osteosarcoma

  We conducted whole-exome sequencing of germline DNA from patients with osteosarcoma to estimate the frequency of pathogenic/likely pathogenic germline genetic variants in known cancer-susceptibility genes in a large population of osteosarcoma patients unselected for family history.

  Study phs002444

• An Omics View of Asthma through Monozygotic Twins

  The etiology of asthma involves both genetic and non-genetic factors. We performed whole transcriptome sequencing on monozygotic twins discordant or concordant for asthma (with concordant healthy twins as controls), and identified multiple potential transcriptomic profiles associated with the asthma phenotype.

  Study phs000886

• Single Cell ATAC-Seq of MELAS

  This dataset includes combined single Assay for Transposase-Accessible Chromatin, using sequencing (ATAC-seq), and mitochondrial DNA sequencing of peripheral blood mononuclear cells from three individuals with m.3243A>G associated MELAS (Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like episodes).

  Study phs002217

• Kids First: Genetics of Kidney and Urinary Tract Malformations

  Congenital defects of the kidney and urinary tract are a common cause of kidney failure in children and adults and elucidation of the genetics of these disorders will provide new opportunities for diagnosis, risk stratification and prevention of complications.

  Study phs002162

• Comprehensive sequencing analyses of uterine and ovarian carcinosarcoma

  We collected 109 primary tumor and mached normal samples of uterine and ovarian carcinosarcoma. The purpose of this study is to find novel therapeutic options for carcinosarcoma as well as a clue to understand the molecular histogenic mechanism.

  Study JGAS000172

• Comprehensive molecular and clinicopathological profiling of desmoid tumors

  Previous studies have not clearly identified a prognostic factor for desmoid tumors (DT). Whole-exome sequencing and/or RNA sequencing were performed in 64 cases of DT to investigate the molecular profiles in combination with the clinicopathological characteristics.

  Study JGAS000270

• Arkansas Children’s Research Institute (ACRI) Data Access Committee – Kelly Research Group

  The Arkansas Children’s Research Institute (ACRI) Data Access Committee – Kelly Research Group oversees requests for access to controlled human genomic and transcriptomic data generated by the Kelly Research Group. The committee ensures that all data access requests are consistent with participants’ informed consent, institutional review board (IRB) approvals, and applicable regulatory requirements. All approved users must agree to use the data solely for biomedical research purposes, maintain data confidentiality, and acknowledge the data source in resulting publications.

  Dac EGAC50000000819

• Whole exome sequencing of virus-associated HCC

  To understand comprehensive combinations of molecular alterations and seek for potential therapeutic targets/pathways in virus-associated HCC, we have conducted a whole exome sequencing (in-solution capturing all human coding exons) of 150 pairs of HCC cases.

  Study EGAS00001000389

• Liquid biopsy to identify taxane resistance in castration-resistant prostate cancer patients

  Taxanes are life-prolonging treatments for patients with advanced prostate cancer. However, treatment resistance and lethal disease invariably develops. We here used liquid biopsies to identify and characterize resistance to cabazitaxel using a targeted sequencing panel (PCF-SELECT).

  Study EGAS50000001292

• smallRNA-seq of isolated pancreatic islets

  In this study we performed smallRNA-sequencing, a sequencing method designed for small noncoding RNAs, to investigate the miRNA expression profile of human islets isolated from pancreata of donors without diabetes mellitus (n=3) and donors with type 2 diabetes (n=3).

  Study EGAS50000000865

• scD&D Multiome of GATA1 regulatory network dynamics during erythropoiesis

  Ex vivo differentiation experiments of human CD34+ hematopoietic stem and progenitor cells and profiled cells along the erythropoietic trajectory at multiple timepoints (differentiation days 0, 5, 8, 18, and 24), for simultaneous assessment of transcriptome, chromatin accessibility and GATA1 binding

  Study EGAS50000001606

• Cohort B tumor exome sequencing

  Cohort B includes IDH-wild type, EGFR amplified, surgically derived glioblastoma tissue samples from male and female individuals. Tumor DNA was isolated from FFPE tissue. Both tumor and germline DNA are present for each sample in the overall dataset.

  Study EGAS50000000955

• WNT7B-reporter organoids sorted

  Transcriptomic data from pancreatic ductal adenocarcinoma (PDAC) organoids to investigate the role of WNT7B. This dataset includes: - Bulk mRNA sequencing of WNT7B-reporter pancreatic ductal adenocarcinoma (PDAC) organoids sorted for cells displaying low, medium and high expression of the reporter

  Study EGAS50000001543

• Spatially resolved transcriptomics reveals profound subclonal heterogeneity and T cell dysfunction in extramedullary myeloma

  Investigating the spatial architecture and microenvironment of EMD lesions in Multiple Myeloma patients using spatial whole transcriptome sequencing (10X Visium), tomography for spatially resolved transcriptomics (TOMO-seq), and single-cell RNA sequencing (scRNAseq)

  Study EGAS50000000227