13306 results for ""pdc"+"heritage+language"+census+study"

in 17.06 milliseconds.

• A machine learning classifier for DNA repair defects using plasma DNA

  Study EGAS00001007006

• RNA sequencing of chondrosarcoma

  To profile chondrosarcoma patients.

  Study EGAS00001004585

• AGECAN - Interespecies conservation of brain specific DNA methylation in aging and cancer

  Study EGAS00001004851

• CITE-seq for peripheral blood samples of 5 breast cancer patients

  Study EGAS00001006241

• Multi-omics analysis of an individual with multiple pancreatic neuroendocrine tumours (panNETs)

  Study EGAS00001006722

• Somatic mutations increase hepatic clonal fitness and regeneration in chronic liver disease

  Study EGAS00001003496

• Shallow sequencing of organoid/xenograft or human colorectal metastases

  Study EGAS00001006696

• A MITF germline mutation predisposes to melanoma and renal cell carcinoma

  Study EGAS00000000048

• Nasal DNA methylation at three CpG sites predicts childhood allergic disease

  Study EGAS00001005189

• Measuring minimal residual disease in acute myeloid leukemia with MASQ

  Study EGAS00001003732

• Validation of cfDNA fragmentome analyses for early detection of liver cancer

  Study EGAS00001008111

• WGS of Roma (Romani/Rroma) and European/Romanian individuals from Romania

  Study EGAS00001003624

• Naive B-cell receptor heavy chain repertoire of celiac patients and healthy controls

  Study EGAS00001003337

• Genome-wide somatic variants in CRC (GRCh38)

  Study EGAS00001004710

• Analysis of the genomic landscape of chemoresistant multiple myeloma

  Study EGAS00001003709

• IBD_Whole_Genome_Sequencing_Phase_1

  IBD Whole Genome Sequencing Phase 1

  Study EGAS00001001735

• Genetic modification of primary human B cells to model high-grade lymphoma

  Study EGAS00001003560

• Exome sequencing

  Exome sequence Pfizer & TwinsUK

  Study EGAS00001001194

• Molecular Profiles of BRCA1-Associated Ovarian Cancer Treated by Platinum-Based Therapy

  Study EGAS00001003980

• Whole exome sequencing of chemotherapy-resistant muscle-invasive urothelial bladder cancer

  Study EGAS00001004231

• Mutational consequences of hematopoietic stem cell transplantation in humans

  Study EGAS00001004926

• A body map of somatic mutagenesis in morphologically normal human tissues (WES)

  Study EGAS00001005459

• HNSCC RNA-seq

  Study EGAS00001004090

• Prostate Cancer mitochondrial DNA heteroplasmies and mitochondrial gene expression

  Study EGAS00001004186

• Genetics and transcriptomics of human acute erythroid leukemia

  Study EGAS00001004203

• Association of DNA-methylation profiles with immune responses in breast cancer patients

  Study EGAS00001004211

• HDAC3 mediates the inflammatory response and LPS tolerance in human monocytes and macrophages

  Study EGAS00001004218

• The impact of urbanization and diet on innate immune responses in healthy Tanzanians

  Study EGAS00001004284

• Profiling Genome-Wide DNA Methylation Patterns in Human Aortic and Mitral Valves

  Study EGAS00001004559

• Selective Elimination of Immunosuppressive T cells in Patients with Multiple Myeloma

  Study EGAS00001004915

• GOSH_Childhood_Tumours_Diseased_Behjati_CRUK_WGS

  Leukemia sample flow pilot.

  Study EGAS00001006804

• Whole Exome sequencing data from Shwachman-Diamond syndrome bone marrow samples

  Study EGAS00001004880

• Epigenetic encoding, heritability and plasticity of glioma transcriptional cell states

  Study EGAS00001005472

• Searching for genetic modulators of the phenotypic heterogeneity in Brugada Syndrome

  Study EGAS00001005848

• Obesity and hyperinsulinemia drive adipocytes to activate a cell cycle program and senesce

  Study EGAS00001005770

• Initial cohort of 500 solid tumors screened for Basket of Baskets

  Study EGAS00001005893

• Targeted de novo phasing and long-range assembly by template mutagenesis

  Study EGAS00001005899

• Genomic insights into the population history of the Resande or Swedish Travellers

  Study EGAS00001006176

• Whole genome sequencing of multifocal small intestinal neuroendocrine tumors

  Study EGAS00001006294

• Sequencing Data of HGSC patient-derived cell lines and organoids

  Study EGAS00001006557

• Whole Exome and RNA sequencing of synchronous female bilateral breast cancers

  Study EGAS00001006910

• Whole genome, RNA-seq and single-cell Multiome profile of multiple myeloma

  Study EGAS00001007014

• Cell-to-cell variability in Myc dynamics drives transcriptional heterogeneity in cancer cells

  Study EGAS00001007091

• Genomic Landscape of Follicular Lymphoma Across a Wide Spectrum of Clinical Behaviors

  Study EGAS00001007105

• Acne meta-analysis

  Acne meta-analysis

  Dataset EGAD00001008342

• Deep whole genome ctDNA chronology of treatment-resistant prostate cancer

  Study EGAS00001005783

• Genetic Analysis of the Chiari I Malformation

  This study used whole exome sequencing (WES) on families affected with Chiari I Malformation (CM1). Individuals were recruited from the Republic of Tartarstan in the Russian Federation, where CM1 has a high prevalence (approximately 413 out of 100,000). At least one-third of these affected individuals have an affected relative. In collaboration with Dr. Enver Bogdanov of Kazan State Medical University, seven extended families affected with CM1 were identified. Eligible participants for this study were required to 1) have CM1 and a family member with syringomyelia or CM1, or 2) be a family member of a patient with CM1 and have at least two immediate family members diagnosed with CM1. Adults and minors were eligible for this study and recruitment was through self and physician referral. Patients were excluded if they had a contraindication to MRI scanning, were unable to understand the risks of testing, were under one year of age, or could not undergo MRI scanning without sedation. Study participants underwent SPGR (Spoiled Gradient Recalled) and T1-weighted MR-imaging of the brain and cervical spinal cord to assess the volume of the posterior fossa, as well as the presence of CM1. Individuals were defined as having CM1 if the inferior aspect of the cerebellar tonsils were lying ≥=2 mm caudal to the foramen magnum. Individuals were defined as having a small posterior fossa volume if the ratio of the posterior fossa volume to the supratentorial volume was < 0.15. Sixty-two patients (both cases and controls) from the seven extended families had DNA extracted from blood lymphocytes contained in 10 milliliters of stored blood. Whole exome sequencing (WES) was performed by the National Intramural Sequencing Center (NISC). These genotype data, as well as the case-control phenotype data on CM1 diagnosis and small posterior fossa diagnosis, were made available to dbGaP.

  Study phs001795

• Population Architecture using Genomics and Epidemiology (PAGE): Multiethnic Cohort (MEC)

  The Multiethnic Cohort (MEC) has established a large biorepository of blood and urine (N=67,000) and cryopreserved lymphocytes (N=15,000) linked to extensive, prospectively collected risk factors (e.g., diet, smoking, physical activity), biomarkers and clinical data for five racial/ethnic groups. This cohort study of over 215,000 men and women in Hawaii and California is unique in that it is population-based and includes large representations of older adults (45-75 yrs at baseline) for five US racial/ethnic groups (Japanese Americans, African Americans, European Americans, Latinos and Native Hawaiians) at varying risks of chronic diseases. Within the PAGE investigation, the MEC proposes to study: 1) diseases for which we have DNA available for large numbers of cases and controls (breast, prostate, and colorectal cancer, diabetes, and obesity); 2) important cancers that are less common (e.g., lung, pancreas, endometrial cancers, NHL) but for which we propose to pool our data with other funded groups; 3) common traits that are risk factors for these diseases (e.g., body mass index/weight, waist-to-hip ratio, height) and 4) relevant disease-associated biomarkers (e.g., fasting insulin and lipids, steroid hormones). The specific aims are: 1) To determine the population-based epidemiologic profile (allele frequency, main effect, heterogeneity by disease characteristics) of putative causal variants in the five racial/ethnic groups in the MEC; 2) for variants displaying effect heterogeneity across ethnic/racial groups, we will utilize differences in LD to identify a more complete spectrum of associated variants at these loci; 3) investigate gene x gene and gene x environment interactions to identify modifiers; 4) examine the associations of putative causal variants with already measured intermediate phenotypes (e.g., plasma insulin, lipids, steroid hormones); and 5) for variants that do not fall within known genes, start to investigate their relationships with gene expression and epigenetic patterns in small genomic studies. This study is part of the Population Architecture using Genomics and Epidemiology (PAGE) study phs000356.

  Study phs000220

• Identifying novel DNA damage response genes in radiosensitive individuals

  Ionizing radiation is an effective therapeutic agent for cancer treatment as well as a potent carcinogen. Sensitivity to the cell-killing effects of radiation can vary across human population with a subset of individuals displaying extreme hypersensitivity. It is usually attributable to inherited defects in DNA damage response pathways. The present study was designed to elucidate the genetic basis of variation in hypersensitivity to radiation exposure through exome sequencing of radiosensitive individuals, with the ultimate goal of identifying genes with the most significant effects on cellular DNA damage responses. The study participants included subjects referred for clinical testing for Ataxia-telangiectasia (A-T), Nijmegen Breakage Syndrome (NBS) or Ligase IV Syndrome. These are rare, recessive genetic disorders and hypersensitivity to radiation exposure is a common phenotype among individuals affected by all the three disorders. The study participants exhibited phenotypic characteristics similar to individuals with A-T, NBS or Ligase IV Syndrome, but lacked the causative mutations in ATM (GeneID:472) or NBN (GeneID:4683) genes. For further validation of the radiation sensitivity phenotype among the enrolled subjects, B-lymphoblastoid cells lines were established for each subject from peripheral blood lymphocytes. Each cell line was evaluated for displaying impaired survival rates relative to normal controls after exposure to ionizing radiation. 53 subjects with validated phenotype were finally included in the study and DNA extracted from their B-lymphoblastoid cell lines was used for exome sequencing. This sequencing data for radiation sensitive subjects is being made available in the dbGaP. It is hoped that this resource will be beneficial for researchers who wish to further investigate components of human cellular DNA damage response pathways and/or genetic architecture underlying radiation hypersensitivity. This data may also aid in the rational design of new radiosensitizing or radioprotective agents.

  Study phs001911

• NEI CIDR Methylation Profiling of Primary Open Angle Glaucoma in GLAUGEN Samples

  This is a case-control study of Primary Open Angle Glaucoma (POAG). POAG is a progressive optic neuropathy that eventually leads to blindness. More than 30 million people worldwide have Primary Open Angle Glaucoma (POAG), of which greater than 3 million are blind. Gene expression changes in the retina have been observed for POAG. Several recent studies, including the GLAUGEN (Glaucoma Gene Environment) initiative have used GWAS to identify correlative regions of the genome. Despite this, the genetic basis of Glaucoma is not well understood. Epigenetic variation may account for low heritability and environmental effects on human disease. Despite the significant advances being made in understanding the role of epigenetics in gene regulation in other fields, little is known about the relationship between DNA methylation patterns, retinal gene expression, and retinal disease. The goal of this study is to identify differentially methylated regions in the peripheral blood of patients with POAG. The case identification is as per the GLAUGEN description: Cases and controls were recruited from ophthalmology clinics and were examined by ophthalmologists. For cases the clinical exam included intraocular pressure measurements, optic nerve assessment and visual field evaluation. Controls had no family history of glaucoma, normal intraocular pressure and normal optic nerves. POAG and control samples come from Massachusetts Eye and Ear Infirmary (MEEI). These samples were collected and genotyped as part of the GLAUGEN study. From the MEEI, 50 patients were selected from POAG pedigrees, to include all the probands genotyped by CIDR and are currently undergoing exome sequencing, and to include additional genotyped probands who belong to pedigrees of sufficient size and structure that parent of origin effects could be evaluated. Additional individual-level phenotype and genotype data may be obtained through the authorized access portal of phs000308 (Geneva - Glaugen GWAS Study).

  Study phs000461