15041 results for "cancer studies using rna-seq"

in 18.10 milliseconds.

• Berlin Neuroblastoma Dataset Update 2021

  Study EGAS00001005604

• Human primary and metastatic colorectal cancer (CRC) samples

  Study EGAS00001006746

• Gene expression profiling in pregnancy-associated breast cancer

  Study EGAS00001008013

• Data Access Committee for Triple Negative Breast Cancer dataset

  Dac EGAC00001003584

• Common and rare germline variants in Japanese prostate cancer patients

  Study JGAS000487

• Single-Cell DNA and RNA Sequencing over A 29-Year Period of A CLL Patient Demonstrating Evolution of Multiple Cell Clones

  Chronic lymphocytic leukemia (CLL) is a frequent B-cell malignancy characterized by recurrent somatic chromosome alterations and a low level of point mutations. Here we present single nucleotide polymorphism (SNP) microarray analyses of a single CLL patient over 29-years of observation and treatment, and transcriptome and whole genome sequencing at selected timepoints. We identified chromosome alterations of 13q14-, 6q- and 12q+ in early cell clones, elimination of clonal populations following therapy, and subsequent appearance of a clone containing trisomy 12 and a chromosome 10 copy neutral loss of heterogeneity (LOH) that marks a major population dominant at death. Serial single cell RNA sequencing revealed elevated mRNA expression of the FOS, JUN and KLF4 genes just before the appearance of acute disease requiring therapy. This gene expression pattern became undetectable following therapy, but reoccurred following relapse. Transcriptome evolution indicates that complex expression changes occur over time. In conclusion, CLL can evolve gradually during indolent phases, and undergo rapid changes following therapy.

  Study phs001181

• Genetics of Glucose Regulation in Gestation and Growth (Gen3G) Cohort - Placenta Transcriptomics RNA Sequencing

  The overarching goals of Genetics of Glucose regulation in Gestation and Growth (Gen3G) are to increase our understanding of biological, environmental, and genetic determinants of glucose regulation during pregnancy and their impact on fetal/child development. Gen3G is a prospective cohort study: we initially recruited 1,024 pregnant women between 2010-2013 at Blood Sampling in Pregnancy Clinic during the first trimester of pregnancy (median 9 weeks of gestation) in Sherbrooke, Québec, Canada. We assessed 898 pregnant women at second trimester (median 26 weeks of gestation), when participants completed a 75g oral glucose tolerance test (OGTT) as clinically indicated for screening of gestational diabetes mellitus (GDM). We collected data for 854 mother-child dyads at delivery (from medical records), in addition to placenta and/or cord blood samples in majority of newborns.The overall goal of the grant that supported data that is included in this dbGaP submission was to discover novel placental factors that regulate glucose metabolism in pregnancy and predict GDM by conducting genome-wide transcriptomics (RNA and miRNA) in carefully collected placenta samples from Gen3G.

  Study phs003151

• RTEL1 mutation as a modifier of Dyskeratosis Congenita in a family with a Telomerase RNA (hTR) template mutation and variant telomeric repeats

  Vertebrate telomeres, the sequences protecting the end of linear chromosomes, are composed of conserved hexameric GGTTAG repeats. Here we present a C50>A telomerase RNA template mutation that results in the incorporation of the variant telomeric repeat GTTTAG in a family with dyskeratosis congenita primarily presenting as idiopathic pulmonary fibrosis. The mutant telomerase is characterized by decreased processivity in direct telomerase activity assays and in vivo based on data from Illumina next-generation whole genome sequencing and Oxford Nanopore Technologies long-read telomere sequencing. The latter provided positional mutant repeat information that revealed the inheritance and maintenance of proximal mutant repeats in individuals who did not inherit the template mutation. Additionally, we describe an RTEL1 nonsense mutation that is associated with very short telomeres in progeny harboring wild-type telomerase and inherited mutant telomeric repeats in the absence of overt clinical phenotypes. In contrast, co-inheritance of the RTEL1 nonsense and TERC r.C50>A mutations coincided with severe early-onset DC phenotypes in two individuals.

  Study EGAS50000001644

• Multimodal Profiling of 500,000 Memory T Cells from a Tuberculosis Cohort Identifies Cell State Associations with Demographics, Environment, and Disease

  We conducted CITE-seq to measure whole transcriptome gene expression and surface expression of 31 proteins. We assayed >500K memory T cells from 259 donors from a tuberculosis progression cohort (128 cases: former progressors and 131 controls: non-progresssors/latent infection) >4 years post-infection after returning to immune steady state. We defined 31 memory T cell states influenced by age, sex, genetic ancestry, and season. After correcting for these covariates, we found that one cell state (C-12), resembling the T helper cells Th17s, were depleted in cases compared to controls. When sorted ex vivo, this state responds to polyclonal or Mycobacterium tuberculosis (Mtb) peptide antigen stimulation with interleukin-17 (IL-17) or interferon gamma (IFNg).

  Study phs002467

• The PEACE (Posthumous Evaluation of Advanced Cancer Environment) Study DAC

  Dac EGAC00001003055

• Cancer Genomics Project RCC Data Access Committee

  Dac EGAC00001000109

• DAC for integrated genomics of metastatic prostate cancer

  Dac EGAC00001000230

• The NOWAC blood-breast cancer commitee data access agreement

  Dac EGAC00001000684

• Ludwig Data Access Committee for the Study of Oesophageal Cancer

  Dac EGAC00001000978

• Children's Cancer Therapy Development Institute Data Access Commitee

  Dac EGAC00001001160

• Latency and interval therapy affect the evolution in metastatic colorectal cancer.

  Dac EGAC00001001198

• Zero Childhood Cancer

  Dac EGAC00001001683

• Whole Exome Sequencing of Mixed Histology Lung Cancer at MDACC

  Dac EGAC00001002034

• Peter MacCallum Cancer Centre Research Data Access Committee

  Dac EGAC00001002510

• Garvan/St Vincent’s Prostate Cancer Tissue and Data Access Committee

  Dac EGAC00001002769

• Hoag Family Cancer Institute Carcinoid Multiomic Study Data Access Committee

  Dac EGAC00001003084

• TCR sequencing of TIL in breast cancer data access committee

  Dac EGAC00001003173

• EGAD00010000554

  SNP 6.0 arrays of small cell lung cancer

  Dataset EGAD00010000554

• EGAD00010000556

  SNP 6.0 arrays of small cell lung cancer

  Dataset EGAD00010000556

• OvCan2

  Digital images of ovarian cancer metastases

  Dataset EGAD00010001099

• Human Throid Cancer and CDK4/6 inhibition Data Access Commitee

  Dac EGAC00001003446

• Netherlands Cancer Institute (NKI) - Wilbert Zwart Group

  Dac EGAC00001003257

• Unraveling the genetics of transformed splenic marginal zone lymphoma

  Study EGAS00001006389

• Mechanisms of duodenal adenoma development in familial polyposis syndromes

  Study EGAS00001006561

• Resident memory CD8 T cell in human lung cancer

  Study EGAS00001004707

• Single cell RNAseq of PBMC from bladder cancer patients

  Study EGAS00001004458

• Genomic Analysis of a Metastatic Fusion-negative Embryonal Rhabdomyosarcoma

  Study EGAS00001006946