13384 results for ""pdc"+"heritage+language"+census+study"

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• A Genome-Wide Association Study on Cataract and HDL in the Personalized Medicine Research Project Cohort

  The primary goals of this project are to develop and validate electronic phenotyping algorithms, to accurately identify cases and controls while maintaining a positive predictive value (PPV) of >95%, and to conduct a genome wide association study that advances understanding of two specific yet interrelated disease states, while simultaneously engaging the community in these research efforts. Lipid abnormalities and cataracts are both diseases of public health significance, they share common risk factors, and they are both complex diseases which likely have many genes contributing to disease development. Whole genome association studies with these two outcomes and environmental risk factors could yield novel data about the etiology of the two separate outcomes as well as their interaction. PhenX is a project designed to prioritize Phenotypes and eXposure measures for Genome-wide Association Studies (GWAS). The PhenX Toolkit is a valuable resource for researchers who are planning or expanding a study and would like to incorporate well established measures that have been recommended by experts in the field. We are currently interested in gene-environment interactions for "age related cataract".

  Study phs000170

• Cambridge Neoadjuvant Cancer of the Prostate (CANCAP03): A Window Study into the Effects of Olaparib ± Degarelix in Primary Prostate Cancer.

  Study: Cambridge Neoadjuvant Cancer of the Prostate (CANCAP03): A Window Study into the Effects of Olaparib ± Degarelix in Primary Prostate Cancer. EudraCT Number: 2014-004417-86 Clinicaltrials.gov Number: NCT02324998 Purpose: Investigate combined PARP and androgen inhibition in primary prostate cancer. Aim: To understand the biological mechanism(s) underlying clinical efficacy, especially in the absence of mutations in homologous recombination (HR) repair pathways. Dataset: Single-nuclear RNA sequencing data from post-treatment radical prostatectomy tissue cores for six patients, 3 from each of olaparib and olaparib and degarelix cohorts. Samples were processed for nuclear isolation and extraction, prior to single-nuclear RNA sequencing. 10x libraries were constructed using the 10x supplied protocol, briefly: individual nuclei were trapped into droplets with a single bead, and poly A transcripts were barcoded during reverse transcription. Complementary DNA was amplified, and libraries were prepared for sequencing on NovaSeq 6000 using S4 flow cell (100k reads per cell). FASTQ files were processed using CellRanger pipeline (10X Genomics). Outputs from the CellRanger pipeline were analysed using the Seurat package (v4.9.9.9049) in R (v4.2.0). Processed data is provided as a Seurat object.

  Study EGAS50000000880

• National Eye Institute (NEI) Ocular Hypertension Treatment Study (OHTS)

  The Ocular Hypertension Treatment Study (OHTS) is an National Eye Institute-sponsored multi-center, randomized, prospective treatment trial designed to determine whether lowering intraocular pressure (IOP) in individuals with ocular hypertension delays or prevents the development of primary open angle glaucoma (POAG). A total of 1,636 individuals with ocular hypertension between 40 and 80 years old were enrolled in the study. In addition to ocular hypertension, subjects in the OHTS were required to have normal optic nerve appearance as determined by the OHTS Optic Disc Reading Center and normal and reliable visual field tests at the time of enrollment by the OHTS Visual Field Reading Center. OHTS subjects were randomly assigned to either an observational group which received close observation or a topical medication group which received medication as needed to achieve a 20% reduction in IOP from their baseline levels. Subjects then were examined at regular intervals for optic disc cupping or visual field defects. Other clinical measures were also obtained from OHTS subjects including central corneal thickness (CCT) and intraocular pressure. The primary outcome monitored for the OHTS was the development of glaucoma in one or both eyes as defined by reproducible visual field abnormality or reproducible optic disc deterioration attributed to POAG by the masked OHTS Endpoint Committee. The OHTS study design has been reported in detail (Gordon, 1999; PMID: 10326953). The OHTS confirmed that ocular hypertension is a risk factor for developing POAG and showed that lowering IOP reduced the risk for developing POAG (Kass, 2002; PMID: 12049574). The OHTS also demonstrated that thin CCT is a significant risk factor for the development of POAG (Gordon, 2002; PMID: 12049575). Blood samples were also collected from 1,077 OHTS participants for an ancillary genetics study. DNA was prepared from these samples and used in a genome-wide association scan (GWAS) designed to identify genetic factors that control the magnitude of quantitative features of glaucoma (baseline IOP, baseline cup-to-disc ratio, and CCT). Genotypes from the GWAS and these clinical data (IOP, cup-to-disc ratio, and CCT) have been provided to dbGaP.

  Study phs000240

• DAC for study Screening for abnormal CGI methylation in primary colorectal tumours

  Dac EGAC00001000069

• Data Access Committee for the Metastatic Breast Cancer Whole-exome sequencing study

  Dac EGAC00001000434

• MeDIP-seq data in the Peri/postnatal Epigenetics Twins Study (PETS)

  Dac EGAC00001000596

• The APL DAC comprises a clinician and biologist who conducted the study.

  Dac EGAC00001000865

• DAC for the study of tumor-derived somatic mutation detection in cfDNA

  Dac EGAC00001001569

• Finland Myoma Study

  Dac EGAC00001002131

• Rapid, economical diagnostic classification of ATRT molecular subgroup using NanoString nCounter platform

  Study EGAS00001007470

• Gene expression profiling of HGCC patient-derived Glioblastoma Cell Lines (ISPA-GBM)

  Study EGAS00001006814

• Targeted sequencing of 13131 older individuals, using 750-gene panel

  Study EGAS00001005316

• Panic study

  To manage Panic saliva microbiota 16S data produced in collaboration.

  Dac EGAC50000000408

• Mitochondrial DNA (mtDNA) analyses in patients with schizophrenia and healthy control individuals

  Study EGAS00001003269

• Mechanisms of active DNA demethylation in human monocytes

  Study EGAS00001004784

• ATAC-Seq and CTCF ChIP-Seq on the OCIAML-2 cell line

  Study EGAS00001004741

• Characterization of human iPSC-derived dopaminergic neurons with 16p11.2 CNVs

  Study EGAS00001005137

• TULIPs decorate the three-dimensional genome of PFA ependymoma

  Study EGAS00001005476

• Single-cell TCR sequencing of DQ2.2-glut-L1-specific T cells

  Study EGAS00001003673

• Quantitative Exploratory Proteomics Analysis of Glioblastoma in Initial and Recurrent Tumors

  Study EGAS00001006395

• RNA_Seq on Human CB-derived LT-HSC with shCTCF or control vector

  Study EGAS00001004745

• Targetable ERBB2 Mutations in Neurofibroma/Schwannoma Hybrid Nerve Sheath Tumors

  Study EGAS00001003776

• Peripheral clonal expansion of T cells (scRNA-seq)

  Study EGAS00001003993

• RNA Sequencing of paediatric patients with B lymphoblastic leukemia

  Study EGAS00001003726

• Quantitative analysis of a novel DNA hypermethylation panel for lung cancer diagnosis

  Study EGAS00001007008

• Activating AKT1 and PIK3CA mutations in metastatic castration-resistant prostate cancer

  Study EGAS00001004328

• Array-based methylation analysis of SDHB-deficient pheochromocytoma and paraganglioma

  Study EGAS00001007844

• The effects of inhaled corticosteroids on healthy airways

  Study EGAS00001007538

• Population Genomics of Native Americans from Andes and Amazon

  Study EGAS00001004639

• Identification of novel colorectal cancer predisposition genes

  Study EGAS00001005118

• CD27hiCD38hi plasmablasts are activated B cells of mixed origin with distinct function

  Study EGAS00001005258

• Atrial appendage miRNA-seq in non-, paroxysmal and persistent atrial fibrillation

  Study EGAS00001005296

• Human gut microbiome in babies with biliary atresia and normal controls

  Study EGAS00001005350

• RNAseq from regions of insitu and invasive human mammary ductal disease

  Study EGAS00001005370

• Evidence that ciliary genes contribute to non-syndromic familial tall stature

  Study EGAS00001005372

• Myeloid cell programming in patients with non-medullary thyroid carcinoma

  Study EGAS00001005594

• PIK3CA mutation in a case of CTNNB1 mutant sinonasal glomangiopericytoma

  Study EGAS00001005653

• Optimisation of CITE-seq on liquid and solid tissues

  Study EGAS00001005849

• A critical spotlight on the paradigms of FFPE-DNA sequencing

  Study EGAS00001005757

• Molecular analysis in bowel malignancies in cancer survivors vs. primary malignancies

  Study EGAS00001005940

• Oesophageal adenocarcinoma whole exome and RNA-seq raw sequencing data

  Study EGAS00001005957

• DNA methylation profiles of samples included in the EORTC 26091 TAVAREC trial

  Study EGAS00001006015

• RNAseq analysis on metastatic Colorectal Cancer xenografts samples

  Study EGAS00001006492

• Treated and control Patient Derived Xenografts of colorectal cancer (CRC) samples

  Study EGAS00001006973

• VRK3 depletion in Pontine Diffuse Midline Glioma (DMG)-K27 altered cells

  Study EGAS00001007047

• Genomic determinants of therapy response in ETV6-RUNX1 leukemia

  Study EGAS00001007066

• Single cell landscape of Multicentric Castleman Disease in monozygotic twins

  Study EGAS00001007390

• Advanced iPSC-CMs maturation by integrating maturation medium, nanopatterning, and electrical stimulation

  Study EGAS00001007491

• RNA sequencing of control OM cells exposed to traffic-related air pollutants

  Study EGAS00001007528

• Measuring the Efficiency of Purging by Nonrandom Mating in Human Populations

  Study EGAS00001007831