14501 results for "PLOS+ONE+Pennsylvania+German+ACS+language+code+pdc+open+access+study"

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• Multimodal antigenic escape to GPRC5D-targeted T-cell engagers in multiple myeloma

  We analyzed the genome of plasma cells collected from bone marrow samples or plasmocytoma from patients prior to (when available) and progression on anti-GPRC5D T cell engagers.

  Study EGAS50000001148

• Long-read and short-read RNA sequencing of human normal liver organoid with or without SF3B4 overexpression

  There are 2 matched short and long read RNA sequencing samples. The project aims to find alternative splicing events and resulting transcript isoforms modulated by SF3B4

  Study EGAS50000001131

• Visium Spatial transcriptomics

  This study consists of the spatial transcriptomics data generated by : Visium CytAssist Spatial Gene Expression for FFPE (10x) for steatotic liver disease-associated hepatocellular carcinoma (SLD-HCC) (n=7) and non-SLD-HCC (n=5) The goal of this data is to compare SLD-HCC vs non-SLD-HCC as well as response to immunotherapy

  Dataset EGAD50000001506

• GeoMx digital spatial profiling of NGS mRNA expression in pre-treatment biopsies from patients.

  This DAC is created to define the data controller (the person that determines the purposes for which and the means by which personal data is processed) for the following study: GeoMx digital spatial profiling of NGS mRNA expression in pre-treatment biopsies from patients with metastatic triple-negative breast cancer treated with PARP inhibitors.

  Dac EGAC50000000774

• RNA sequencing of skin tissue and peripheral blood mononuclear cells from patients with atopic dermatitis and healthy controls.

  We performed RNA-sequencing of skin tissue and peripheral blood mononuclear cells obtained from patients with atopic dermatitis along with healthy controls in Japanese population.

  Study JGAS000628

• Different malignant tumor samples including lung cancer, colon cancer and breast cancer.

  Genomic DNA was purified from tumor cells and normal cells in cancer patients; We sequenced those genomic DNAs using 10X Genomics sequencing technologies, and analyzed genomic structural variations.

  Study JGAS000360

• Total NF1 sequence in the patients with neurofaibromatosis type1

  We analyzed whole NF1 gene region at DNA (including whole exon and intron sequences) and RNA (full length cDNA of leukocyte) level for 20 patients with neurofibromatosis type 1.

  Study JGAS000288

• ICGC PanCancer Analysis of Whole Genomes

  Study EGAS00001001692

• Testing_the_feasibility_of_genome_scale_sequencing_in_routinely_collected_FFPE_cancer_specimens_versus_matched_fresh_frozen_samples

  Testing the feasibility of genome-scale sequencing in routinely collected formalin-fixed paraffin-embedded (FFPE) cancer specimens versus matched fresh-frozen samples using whole exome and targeted exome capture prior to Illumina sequencing.

  Study EGAS00001000173

• GENOMIC INSTABILITY IN MISMATCH REPAIR DEFICIENT COLORECTAL CANCER

  Here we performed whole exome sequencing on a series of 47 mismatch repair (MMR) deficient colorectal cancers (CRC) in order to identified key events in tumoral initiation and progression

  Study EGAS00001002477

• Presence of bacterial infection in brains of patients with Huntington's disease (HD)

  Bacterial isolation in infected brains in patients with Huntington's disease. Here we used next generation sequencing of 16S ribosomal RNA gene PCR amplicons (NGS 16S amplicon analysis)

  Study EGAS00001003678

• Human T-bet governs innate and innate-like adaptive IFN-g immunity against mycobacteria.

  We report a patient with mycobacterial disease due to inherited deficiency of the transcription factor T-bet. PBMCs from the patient was analyzed with scRNA-seq.

  Study EGAS00001004504

• OCCAMS_Oesophageal_Cancer_Organoids_1

  ***THIS DATA CAN ONLY BE USED FOR NON-COMMERCIAL CANCER RESEARCH*** Sequencing of organoid cell lines derived from oesophageal tumour sections taken from patients diagnosed with primary oesophageal cancer who underwent tumour resection surgery.

  Study EGAS00001001382

• Whole_Genome_Sequencing_OMELib__Cord_blood_

  The mutational landscape of haematopoietic cells will be characterized by WGS following amplification of DNA and preparation of libraries by PTA(primary template-directed amplification). Samples have been sourced from the Cambridge Biobank.

  Study EGAS00001007453

• WES used for direct identification of clinically relevant neoepitopes presented on native human melanoma tissue by mass spectrometry

  We performed whole exome sequencing of tumor- as well as PBMC-derived DNA of five melanoma patients for identification of naturally presented patient-specific neoepitopes.

  Study EGAS00001002050

• Whole exome and transcriptome sequencing of biliary tract cancer

  To uncover the full repertoire of genetic and transcriptomic landscape of biliary tract cancer (BTC), we molecularly characterized BTC based on genetic and transcriptomic alteration profiles.

  Study EGAS00001000950

• Chondromyxoid_fibroma

  Chondromxoid fibroma is a benign tumour of bone with unknown underlying pathogenesis. To determine pathognomic genomic event in chondromyxoid fibroma whole genome sequencing will be undertaken to reconstruct rearrangements and find underlying mutations.

  Study EGAS00001000533

• Targeted_NanoSeq_Buccal

  Targeted NanoSeq in buccal epithelium obtained longitudinally from a number of donors. A custom-designed panel of ~200 genes will be used to achieve high depth coverage (aiming for ~1000X at panel sites).

  Study EGAS00001005925

• Single-cell T-cell receptor sequencing of intraepithelial gammadelta T-cells in celiac disease

  Single-cell paired TCR sequencing of intraepithelial γδ T-cells in gluten-free diet treated and untreated celiac disease patients and in controls. (Paired end, amplicon sequencing).

  Study EGAS00001003897

• Genomic architecture and evolution of clear cell renal cell carcinomas defined by multiregion sequencing

  We applied multi-region exome sequencing to 10 clear cell renal carcinomas to resolve the genetic architecture, intra tumour heterogeneity and evolutionary histories of these tumours.

  Study EGAS00001000667

• Growth Hormone (GH) -secreting Pituitary Adenoma

  Data from 12 fresh-frozen somatotropinomas and their corresponding blood samples. Details are given in Valimaki et al. Whole-genome sequencing of Growth Hormone (GH) -secreting Pituitary Adenoma. Provisionally accepted, 2015.

  Study EGAS00001001293

• Poikiloderma_syndrome_RNAseq

  We will sequence the RNA of lymphoblast samples, transformed with EBV, which have poikiloderma syndrome with mutations in c16orf57. The aim of the experiment is to characterise RNA structural effects in this disease.

  Study EGAS00001000250

• Presence of bacterial infection in brains of patients with Parkinson's disease (PD)

  Isolation of bacteria in infected brains in patients with Parkinson's disease. Here we used next generation sequencing of 16S ribosomal RNA gene PCR amplicons (NGS 16S amplicon analysis).

  Study EGAS00001003643

• Sequencing_melanoma_germlines

  In this project we performed targeted sequencing of around 50 candidate melanoma genes in the germline of melanoma patients and matched controls. Our aim was to identify variants that contribute to melanoma susceptibility.

  Study EGAS00001002081

• RNASeq of PAX4 KO vs WT in 7 stages of differentiation from human iPSCs to BLC

  Transcriptomes were profiled along with the differentiation from human induced pluripotent stem cell (iPSC) to beta-like cell (BLC) with PAX4 knocked out or not.

  Study EGAS00001006036