15153 results for "cancer studies using rna-seq"

in 19.68 milliseconds.

• DAC for BCP-LBL Kiel

  Whole exome sequencing and RNA sequencing of B-Cell Precursor Lymphoblastic Lymphoma tissue biopsies.

  Dac EGAC50000000181

• DupiAERD DAC

  DAC to regulate access to RNA sequencing data of NERD patients with dupilumab treatment before and after aspirin provocation.

  Dac EGAC50000000273

• resistance to FGFR inhibitor from RNA sequencing

  WTS performed on tissues from resistant patients

  Study EGAS50000000306

• Whole transcriptome profiling of liquid biopsies from tumour xenografted mouse models enables specific monitoring of tumour-derived extracellular RNA

  Study EGAS00001005740

• CGC_RNAseq

  RNA sequencing during time series

  Dataset EGAD00001006321

• RNAseq data

  Individual FASTQ files from RNA sequencing.

  Dataset EGAD00001008796

• Targeted MCC-seq

  The capture panel targets the functional methylome in human whole blood. Regions incorporated in the panel design included hypomethylated windows generated from merged WGBS data.

  Dataset EGAD50000000286

• NICHE - DNA-seq of MMR proficient and MMR deficient early stage colon cancers

  The dataset includes 174 FASTQ files from paired-end WXS sequencing on Illumina HiSeq2500 for 39 patients.

  Dataset EGAD00001006041

• SCNA-Seq of tumor DNA samples

  Low coverage whole genome sequencing for the identification of somatic copy number alterations (SCNA) and focal amplification mapping of corresponding tumor material

  Dataset EGAD00001002150

• Identification of Targetable FGFR Gene Fusions in Diverse Cancers

  In this study, patients with advanced cancer across all histologies were enrolled in our IRB approved clinical sequencing program, called MI-ONCOSEQ, to go through an integrative sequencing which includes whole exome sequencing of the tumor and matched normal, and transcriptome sequencing. Four index cases were identified which harbor gene rearrangements of FGFR2 including two cholangiocarcinoma cases, a metastatic breast cancer case, and a metastatic prostate cancer case. After extending our assessment of FGFR rearrangements across multiple tumor cohorts, including TCGA, we identified FGFR gene fusions with intact kinase domains of FGFR1, FGFR2, or FGFR3 in cholangiocarcinoma, breast cancer, prostate cancer, lung squamous cell cancer, bladder cancer, thyroid cancer, oral cancer, glioblastoma, and head and neck squamous cell cancer. All FGFR fusion partners tested exhibit oligomerization capability, suggesting a shared mode of kinase activation. Overexpression of FGFR fusion proteins in vitro induced cell proliferation, and bladder cancer cell lines that harbors FGFR3 fusion proteins exhibited enhanced susceptibility to pharmacologic inhibition in vitro and in vivo. Due to the combinatorial possibilities of FGFR family fusion to a variety of oligomerization partners, clinical sequencing efforts which incorporate transcriptome analysis for gene fusions are poised to identify rare, targetable FGFR fusions across diverse cancer types.

  Study phs000602

• Novel Strategies to Eliminate Resistance to B-cell Receptor Inhibitor Therapy in Lymphoid Malignancies

  Ibrutinib and acalabrutinib are BTK inhibitors (BTKi) used as frontline therapies for chronic lymphocytic leukemia (CLL). Clonal evolution during ibrutinib treatment has previously been studied, but limited study of clonal evolution in patients receiving acalabrutinib has been done. Our group analyzed 216 blood samples from 38 CLL patients at multiple time points during their BTKi treatment. Samples were prepared by standard protocols and sequenced using 200x Illumina sequencing. Using the longitudinal data, we reconstructed the clonal evolution of each patient using somatic mutations found within the B-cell populations. Three patterns of clonal evolution were identified: 1) new clone emergence, 2) clonal selection, and 3) clonal replacement. As previously seen in ibrutinib treatment, the evolution of subclones containing CLL-driver mutations was associated with worse clinical outcomes for patients treated with acalabrutinib (Log-rank p=0.04). Understanding clonal evolution during treatment with acalabrutinib can help determine and modify the clinical course of patients with CLL.

  Study phs003042

• Genome-wide Rare Variant Score Associates With Morphological Subtypes of Autism Spectrum Disorder

  Defining different genetic subtypes of Autism Spectrum Disorder (ASD) can help predict developmental outcomes. Based on minor physical and major congenital anomalies, we categorized 325 Canadian children with ASD into dysmorphic and non-dysmorphic subgroupings. We developed a method to calculate a genome-wide rare variant score (GRVS) from whole-genome sequencing (WGS) data for each ASD proband. GRVS is a sum of the number of variants in morphology-associated coding and non-coding regions, weighted by their effect sizes. Probands with dysmorphic ASD had a significantly higher GRVS compared to those with non-dysmorphic ASD (P= 0.027). Using the polygenic transmission disequilibrium test, we observed an over-transmission of ASD-associated common variants in non-dysmorphic ASD probands (P= 2.9×10-3). We replicated our findings using 442 ASD probands that had accompanying morphology data in the Simons Simplex Collection. Our findings provide support for an alternative genomic classification of ASD subgroups using morphology data, which may inform intervention protocols.

  Study EGAS00001005753

• Exome and RNA sequencing data from 32 ocular and extraocular sebaceous carcinomas

  Sebaceous carcinomas (SeC) are cutaneous malignancies that, in rare cases, metastasize and prove fatal. Here we report whole exome sequencing on 32 SeC, revealing distinct mutational classes that explain both cancer ontogeny and clinical course. A UV-damage signature predominated 10/32 samples, while 9 were instead defined by microsatellite instability (MSI) mutations. UV-damage SeC exhibited poorly differentiated, infiltrative histopathologycompared to MSI signature SeC (p = 0.003), features previously associated with dissemination. Strikingly, UV-damage SeC transcriptomes and anatomic distributionclosely resembling those of cutaneous squamous cell carcinomas (SCC), implicating sun-exposed keratinocytes as a cell of origin. Like SCC, this UV-damage subclass harbors a high somatic mutation burden with >50 mutations/Mb, predicting immunotherapeutic response. In contrast, ocular SeC acquire far fewer mutations without a dominant signature, but show frequent truncating mutations in the ZNF750 epidermal differentiation regulator. Our data exemplify how different mutational processes convergently drive histopathologically related but clinically distinct cancers.

  Study EGAS00001002869

• single-cell RNA sequencing and RNA sequencing of normal uterine cervix

  We designed this study to identify molecular markers of HPV18 early promoter. In this study, we developed patient-derived organoids from squamous-columular junction of normal uterine cervix and infected HPV18 into those organoids to elucidate the molecular biological characteristics of HPV18-activated cells.

  Study JGAS000640

• Genetic dysregulation of gene expression and splicing during a ten-year period of human aging in the PIVUS study

  We performed RNA sequencing in whole-blood from the same individuals from the PIVUS study at ages 70 and 80 to quantify how gene expression, alternative splicing, and their genetic regulation are altered during this 10-year period of advanced aging.

  Study EGAS00001003583

• Somatic_evolution_in_the_psoriatic_skin

  We will use laser capture microdissection to dissect groups of a few hundred cells, from which we will isolate and sequence nucleic acids. We aim to whole-genome, whole-exome and RNA sequence the samples in effort to understand the accumulation of somatic mutations in psoriasis and their effect on transcription.

  Study EGAS00001004882

• Single Cell MK and HSC sequencing

  In the current understanding of adult bone marrow hematopoiesis, megakaryocytes (MKs) originate from cells immuno-phenotypically indistinguishable from hematopoietic stem cells (HSCs), bypassing intermediate progenitors. Here, we use single cell RNA sequencing to characterize HSCs and MKs from human bone marrow, to investigate MK lineage commitment and maturation.

  Study EGAS00001004844

• RSV infection of primary bronchial epithelial cells in asthma

  Primary bronchial epithelial cells derived from healthy donors and asthma patients were differentiated in Air-Liquid-Interface condition and infected with the respiratory syncytial virus. Single-cell RNA sequencing analysis of these cultures was used to study the transcriptomic response of the cells to RSV.

  Study EGAS00001007450

• Single-cell RNA sequencing of T-LGLL patients

  Single-cell RNA sequencing was performed on viably frozen cells from 11 T-LGLL samples from 9 T-LGLL patients and 6 age-matched healthy samples. The raw data is available as fastq files.

  Dataset EGAD00001008409

• Combined Telomerase Vaccination and Pembrolizumab in Advanced Melanoma: WES and RNA sequencing of biopsies from a Phase I Trial

  This dataset contains whole-exome and RNA sequencing of biopsies obtained from patients enrolled in a phase I clinical trial investigating the UV1 vaccine in combination with pembrolizumab in patients with advanced melanoma.

  Dataset EGAD00001011074