13403 results for ""pdc"+"heritage+language"+census+study"

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• Genetic Etiology of Heterotaxy

  To understand the genetic etiology of heterotaxy, patients with heterotaxy were consented and recruited, with blood drawn for DNA extraction and exome sequencing. Using the exome sequencing dataset obtained, rare coding sequence variants were identified.

  Study phs001691

• PEDS-PLAN - Pediatric Precision Laboratory Advanced Neuroblastoma Therapy

  A multi-center clinical trial for newly diagnosed high-risk neuroblastoma patients. Molecular tumor boards selected one of six targeted agents based on tumor-normal whole exome sequencing and tumor RNA sequencing data.

  Study phs002303

• Analysis of Treg gene expression patterns by RNA-Seq in patients with rheumatoid arthritis (RA) and healthy controls (HCs) : Comparison between young and elderly individuals

  We compared the gene expression of CD4+CD45RA-CD25hiCD127lo Treg cells from PBMCs between young and elderly RA patients and HCs by RNA-seq

  Study JGAS000693

• Establishment of iPS cells from Japanese healthy volunteers

  We performed whole exome sequencing of Japanese volunteers. We established iPSCs from those volunteers, and the iPSCs were deposited to Riken Bioresource Bank. The whole exome sequencing were performed using their PBMCs.

  Study JGAS000287

• Spatial transcroptomic analyses against non-metastatic and metastatic lymph node from breast cancer patients

  We performed spatial transcroptomic analyses against non-metastatic and metastatic lymph node from breast cancer patients to investigate how metastasized breast cancer cells affect gene expression in lymph nodes

  Study JGAS000616

• Target sequencing of a case of concurrent Langerhans Cell Histiocytosis and Acute Myeloid Leukemia

  We performed target sequensing of the bone marrow and lymph node samples to scrrening for driver mutations in a case of concurrent Langerhans Cell Histiocytosis and Acute Myeloid Leukemia.

  Study JGAS000558

• The exploratory research of diagnositic biomarker and therapeutic targets of renal cell carcinoma.

  We search more effective markers, which predict worse prognosis in patients with RCC and become targets for therapy of RCC, using tissues of patients with RCC by global transcriptional analysis.

  Study JGAS000149

• Comprehensive analyses of clinicopathological features and genomic mutations of combined hepatocellular-cholangiocarcinoma

  Combined hepatocellular and cholangiocarcinoma (cHCC-CCA) is a rare primary liver cancer. We performed whole exome sequencing to clarify the relationship between genetic mutations and clinicopathological features in cHCC-CCA.

  Study JGAS000599

• The RNA, ChIP and whole exome sequencing analysis of human colorectal cancer organoids and normal colon organoids treated with (+)-JQ1

  To reveal the mechanism of anti-tumor effect of (+)-JQ1, we performed RNA, ChIP and whole exome sequencing using human colorectal cancer and normal colon organoids.

  Study JGAS000378

• Somatic copy number alterations profiling in non-small cell lung cancer and their correlation with clinical efficacy in first-line treatment

  Genomic data from FFPE tumor samples of 258 patients with non-small cell lung cancer (NSCLC), profiled by shallow whole-genome sequencing (sWGS) at 1x. The study aimed to characterize somatic copy number alterations (SCNAs) and SCNA burden to assess their clinical relevance for patient stratification across different first-line treatments.

  Dac EGAC50000000929

• Genome-wide association scan in psoriasis

  To identify novel susceptibility loci for psoriasis, we undertook a genome-wide association scan of of 594,224 SNPs in 2,622 individuals with psoriasis and 5,667 controls.

  Study EGAS00000000108

• Aging and viral evolution impair immunity against dominant pan-coronavirus-reactive T cell epitope

  In this project we have analysed gene expression and Tcell repertoires of CD40L+41bb+ and CD40L-41bb- Tcells from young and old donors after stimulation with the iCope peptide.

  Study EGAS50000001150

• Single cell RNA sequencing of cerebrospinal fluid

  Single-cell RNA sequencing of cells isolated from cerebrospinal fluid from 81 individuals with multiple sclerosis (n=33) or other neurological disease (n=48) using 10x Genomics 3’ expression (v2 chemistry).

  Study EGAS00001007478

• RNA-seq and scRNA/TCR-seq data for publication: "Pharmacological inhibition of nonsense-mediated mRNA decay enhances anti-tumour immunity"

  RNA-seq and scRNA/TCR-seq data from patient-derived fragments (PDFs) analysed in publication by R. Vendramin, H. Fu, S. Fernandez Patel, Y. Zhao et al.

  Study EGAS50000001208

• RNA sequencing of OM-ALI cultures derived from control and AD individuals exposed to SARS-CoV-2

  RNA sequencing of air-liquid interface (ALI) cultures of olfactory mucosa (OM) cells derived from control (n=3) and AD (n=3) individuals exposed to SARS-CoV-2.

  Study EGAS50000000408

• 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

• PDAC organoids treated with LGK974

  Transcriptomic data from pancreatic ductal adenocarcinoma (PDAC) organoids to investigate the role of WNT7B. This dataset includes: - Bulk mRNA sequencing of LGK974 treated pancreatic ductal adenocarcinoma (PDAC) organoids from three different patients for 24h

  Study EGAS50000001542

• Exome-sequencing from monocytes (CD14pos), T-lymphocytes (CD3pos) and iGRAN (CD14neg) cells from CMML patients

  Exome-sequencing from monocytes (CD14pos), T-lymphocytes (CD3pos) and iGRAN (CD14neg) cells from CMML patients [Publication title] CXCL8 secreted by immature granulocytes inhibits wildtype hematopoiesis in chronic myelomonocytic leukemia

  Study EGAS50000000557

• Age-dependent association of clonal hematopoiesis with COVID-19 mortality in patients over 60 years

  Genomic DNA extracted from peripheral blood of COVID-19 patients (n = 241 deceased, n = 239 survivors) was sequenced with the Myeloid Solutions™ panel of SOPHiA Genetics.

  Study EGAS50000000001

• BCL11B Enhancer Hijacking by t(14;16)(q32;q24) Translocation Defines a Novel High-Risk Subtype of T-ALL

  We performed integrated analysis of pediatric and adult T-ALL and mixed phenotype acute leukemias (MPALs) by whole-genome and whole-transcriptome sequencing.

  Study EGAS50000001254

• Identification of phenotype-modifier genes

  Patients were stratified at the extremes of the renal phenotype according to their estimated glomerular filtration rate annual decline and subjected to whole exome sequencing (WES) aiming to find candidate phenotype-modifier genes.

  Study EGAS50000000829

• Integrated whole-genome and transcriptome sequencing reveals divergent evolutionary processes across biliary tract cancer subtypes (WTS data from biliary tract cancer molecular subtype study)

  WTS data for biliary tract cancer samples (Consensus molecular subtypes define distinct evolutionary trajectories of biliary tract cancers). The dataset includes tumour bam files sequenced on Illumina HiSeq/NovaSeq and aligned against GRCh38 (n=85 tumours)

  Dataset EGAD50000002529

• Targeted DNA sequencing of TTFields-treated glioblastoma, IDH wildtype

  This dataset contains raw paired-end FASTQ files from targeted DNA sequencing using the TruSight Oncology 500 panel in patients with glioblastoma, IDH wildtype, treated with surgery, standard chemoradiotherapy and Tumor Treating Fields at Charité – Universitätsmedizin Berlin. Tumour samples were collected at first surgery and are linked to pseudonymised clinical and molecular annotations described in the associated EGA study.

  Dataset EGAD50000002117

• ResolveCRPS study - Transcriptomics

  Transcriptome profiling of CRPS-affected skin using low-input total RNA-seq (paired-end mode with 54 and 68 nt read length for R1 and R2 respectively, Illumination NextSeq2000). 42 snap-frozen skin biopsies were analyzed together with longitudinal clinical data. The dataset contains FASTQ files, the processed read count matrix, and the corresponding clinical metadata.

  Dataset EGAD50000001545

• The dataset for Early detection of ovarian cancer using cell-free DNA fragmentomes and protein biomarkers

  The dataset for “Early detection of ovarian cancer using cell-free DNA fragmentomes and protein biomarkers” includes 409 cram files from whole genome next-generation sequencing on the Illumina HiSeq2500. The samples analyzed include plasma samples from healthy individuals and patients with cancer.

  Dataset EGAD50000000695