15034 results for "cancer studies using rna-seq"

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• Reference epigenome Islet-derived-iPSC02 h3k27ac ChIP-Seq data generated from KEP study

  Islet-derived-iPSC02 h3k27ac ChIP-Seq paired end data

  Dataset EGAD00001007443

• Reference epigenome Islet-derived-iPSC02 h3k9me3 ChIP-Seq data generated from KEP study

  Islet-derived-iPSC02 h3k9me3 ChIP-Seq paired end data

  Dataset EGAD00001007448

• ALI culture bronchial cells and alveolar lung surgical resection scRNA-Seq

  ALI culture bronchial cells and alveolar lung surgical resection scRNA-Seq

  Dataset EGAD00001006185

• Reference epigenome Islet-derived-MSC01 h3k36me3 ChIP-Seq data generated from KEP study

  Islet-derived-MSC01 h3k36me3 ChIP-Seq paired end data

  Dataset EGAD00001007404

• Reference epigenome Islet-derived-MSC02 h3k4me1 ChIP-Seq data generated from KEP study

  Islet-derived-MSC02 h3k4me1 ChIP-Seq paired end data

  Dataset EGAD00001007412

• Reference epigenome Islet-derived-iPSC02 h3k36me3 ChIP-Seq data generated from KEP study

  Islet-derived-iPSC02 h3k36me3 ChIP-Seq paired end data

  Dataset EGAD00001007445

• Reference epigenome Islet-derived-iPSC02 h3k4me1 ChIP-Seq data generated from KEP study

  Islet-derived-iPSC02 h3k4me1 ChIP-Seq paired end data

  Dataset EGAD00001007446

• A Phase I/II Trial of T Cell Receptor Gene Therapy Targeting HPV-16 E7 for HPV-Associated Cancers

  This is a phase I clinical trial testing the safety and efficacy of gene-engineered T cells expressing a T-cell receptor targeting an HLA-A*02:01-restricted epitope of HPV-16 E7 (E7 TCR T cells) in patients with metastatic HPV-16+ epithelial cancers. A total of 12 patients were treated. The maximum tested dose was tolerated. Side effects were most consistent with the expected toxicities of the lymphocyte-depleting conditioning regimen and high-dose aldesleukin. Six of the 12 patients demonstrated objective clinical responses. Translational studies of the infused T cell characteristics did not correlate strongly with clinical response. Genomic defects in the targeted peptide-HLA complex did demonstrate definitive mechanisms of resistance in some patients.

  Study phs002286

• Exome Sequencing of Schizophrenia Cases and Controls in the South African Xhosa Population

  The goal of this international collaborative project is to identify genes responsible for Schizophrenia in the Xhosa population of South Africa. The vast majority of the genetic basis for Schizophrenia has yet to be explained. We hypothesize that genes and pathways important to Schizophrenia will harbor different, severe disease-causing mutations in different affected individuals. Given the genetic diversity of African populations, we expect to find genes for Schizophrenia that have not yet emerged from studies of other populations. This project will also foster the development of gene discovery research for neuropsychiatric disorders in Africa. Our approach will identify genes important for the disorder in populations worldwide. These genes will stimulate future efforts to develop more effective treatment and prevention strategies.

  Study phs000959

• Rapid Acceleration of Diagnostics - Digital Health Technologies (RADx-DHT): COVID-19 Experience Study (C19EX) Survey

  This was conducted virtually through the Achievement studies platform during the current COVID-19 pandemic. Participants were asked to complete a survey every day to capture information about whether they had experienced symptoms corresponding to respiratory, ILI, and COVID-19 infections within the previous 24 hour period, their experiences with the healthcare system, treatments, diagnostic testing, and their behaviors and potential risk factors. Participants were also asked to share their wearable activity tracker data. The purpose of this study was to better understand the geographic spread of diseases, impacts on daily life, and behavioral and physiological functioning in relation to recent self-reported respiratory disease, influenza-like-illness (ILI), and coronavirus disease (COVID-19) events.DOI: https://rapids.ll.mit.edu/10.57895/6m5z-je42

  Study phs002537

• Autism Genome Project (AGP) Consortium - Whole Genome Association Study of over 1,500 Parent-Offspring Trios - Stage I and II

  Autism spectrum disorders (ASDs) are highly heritable (~90%), yet the underlying genetic determinants are largely unknown. To understand the genetic and phenotypic heterogeneity in ASDs, we analyzed 2,611 strictly defined ASD families with over 1,000,000 single nucleotide polymorphisms (SNPs), and applied multiple analytical strategies to examine these families for SNPs and Copy Number Variation (CNVs) affecting risk for ASDs. Secondary analyses examined associations in more homogenous subgroups. Furthermore, the use of large control datasets permitted contrasting case and control samples and addressed the potential increased burden of rare CNVs in ASD. Our data have allowed us to discern key features of the ASD genomic architecture, find new susceptibility loci, and chart a course for future studies in ASDs.

  Study phs000267

• Establishment and genomic analysis of mixed phenotypic acute leukemia cell lines

  Among acute leukemias, mixed phenotype acute leukemias (MAPL; mixed phenotype acute leukemiae), which have both acute myeloid and acute lymphocytic leukemia traits, are generally considered resistant to chemotherapy, especially those with t(9;22) MPAL has a poorer prognosis than other forms of MPAL and is a challenge to overcome. MPAL accounts for less than 1% of all acute leukemias, and the rarity of this disease makes it difficult to conduct clinical studies to develop treatments for the disease. Therefore, we planned to establish cell lines based on acute leukemia cells (JMPAL-1) obtained from MPAL patients, and to analyze information such as gene mutations related to disease development based on these cell lines for therapeutic purposes.

  Study JGAS000721

• C-MACH reduced-representation bisulfite sequencing (RRBS)

  Umbilical cord blood (CB) has been commonly used as an epigenetic surrogate of fetuses. Here, we propose umbilical cord tissue (UC) as an alternative surrogate for epigenetic studies on fetuses. To explore the feasibility to examine UC epigenome by deep sequencing, we determined CpG methylation profiles of human postnatal UC by reduced representation bisulfite sequencing. We compared DNA methylomes between UC and CB. To investigate the effect of folate during pregnancy on fetal DNA methylation, we compared fetal UC DNA methylation between low and high levels of maternal plasma folate. Our study suggests that UC is useful as an alternative surrogate for studying environmental effects on DNA methylation in human fetuses, compensating CB by providing additional information about epigenetic regulation of genes.

  Study JGAS000171

• Integrated genomic analysis identifies recurrent mutations and evolution patterns driving the initiation and progression of follicular lymphoma.

  follicular lymphoma (FL), the most common indolent non-Hodgkin’s lymphoma, remains incurable. A well-recognized complication of FL is its transformation to a diffuse large B-cell lymphoma (DLBCL)-morphology in a subset of patients, for which the clinical outcomes are poor. Recent genetic profiling and single case studies of donor-derived FL following stem cell transplantation had alluded to the putative existence of a ‘long lived’ tumor-initiating progenitor cell compartment from which successive disease events occurred. To chronicle the genetic changes associated with progression to transformation, we conducted whole-genome sequencing (WGS) of FL-tFL pairs and matched germline (GL) samples from six patients, a total of 20 genomes.

  Study EGAS00001000399