14390 results for ""Pennsylvania+German"+ACS+study+'Socius'+open+access"

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• ICR MOPOPGEN UK exome control series

  ICR MOPOPGEN UK exome control series

  Study EGAS00001001667

• Imputation-Based Meta-Analysis of Severe Malaria in Three African Populations

  To be done

  Study EGAS00001000807

• Evolution_of_the_cancer_epigenome_in_myeloproliferative_neoplasms_2

  Whole genome sequencing and bisulphite sequencing of haematopoietic colonies

  Study EGAS00001002372

• scRNA mCRC PDO

  scRNA of five mCRC organoids in basal conditions

  Study EGAS00001006214

• Plasma DNA profile in DNASE1L3 deficiency

  Plasma DNA profile in DNASE1L3 deficiency

  Study EGAS00001004342

• Engineered_cartilage__deriving_design_principles_from_human_developmental_pathways

  Engineered cartilage: deriving design principles from human developmental pathways

  Study EGAS00001006443

• CPC-GENE Prostate Cancer Heterogeneity Study

  Raw sequence data, fastq format

  Dataset EGAD00001002885

• Summary statistics for cervical cancer GWAS

  Summary statistics from GWAS meta-analysis of cervical cancer

  Dataset EGAD00001004361

• WGS data for NRF2 study

  WGS data for cell lines and clinical samples

  Dataset EGAD00001002244

• Summary statistics

  Summary statistics Korean PD (n=410) vs. Korean Healthy Control (n=200)

  Dataset EGAD00001009775

• NSAID-LIV

  1000G Phase 3 Imputed cases and controls from NSAID-induced PUD study

  Dataset EGAD00010001422

• HGP-U-1

  Himalayan population genetic study raw data (Himalaya)

  Dataset EGAD00010001472

• EXCEED Study HRC imputation

  EXCEED samples imputed to HRC reference panel using Michigan Imputation server

  Dataset EGAD00010001685

• DAC for the study molecular biomarkers associated with the diagnosis and severity of genetic and diseases from PAIDI-BIO354 GENYO-UGR)

  Dac EGAC00001003090

• Whole Exome Sequencing of Bipolar cases and matched controls performed at the Broad Institute on a cohort from Germany

  Study EGAS00001005858

• resistance to FGFR inhibitor from RNA sequencing

  WTS performed on tissues from resistant patients

  Study EGAS50000000306

• Novel de novo pathogenic variant in the GNAI1 as a cause of severe disorders of intellectual development with autistic features

  Study EGAS00001005346

• Somatic mutations in healthy and leukemic blood progenitors reveal evolutionary mechanisms underlying childhood leukemia and differential patient outcome

  Study EGAS00001004593

• Gene expression profiles of disseminated breast cancer cells

  Study EGAS00001004597

• Nanopore sequencing from liquid biopsy: analysis of copy number variations from cell-free DNA of lung cancer patients

  Study EGAS00001004975

• Novel de novo pathogenic variant in the GNAI1 as a cause of severe disorders of intellectual development with autistic features

  Study EGAS00001005355

• RNA-seq on neuroblastoma PDX model COG-N-519 treated with control miR-1283 and test miR-99b-5p mimics

  Study EGAS00001005368

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

  Study EGAS00001005740

• Single-cell multi-omics of human clonal hematopoiesis reveals that DNMT3A R882 mutations perturb early progenitor states through selective hypomethylation.

  Study EGAS00001006364

• transcriptome analysis of NK cells sorted from PBMCs at baseline and after addition of a T cell dependent bispecific antibody (TDB)

  Study EGAS00001006914

• The effector program of human CD8 T cells can promote both target cell killing and tissue remodeling

  Study EGAS00001006960

• RNA sequencing of in vitro generated suppressive myeloid cells using parental and Sialidase expressing A549 cancer cell lines

  Study EGAS00001007618

• DAC for study involving the spatial transcriptomics analysis of HPV-dependent and HPV-independent vulval squamous cell carcinoma at Imperial College London.

  Dac EGAC00001003515

• Structural and Non-Coding Variants Increase the Diagnostic Yield of Clinical Whole Genome Sequencing for Rare Diseases

  Study EGAS00001007575

• Genomic and immune signatures predict clinical outcome in newly diagnosed multiple myeloma treated with immunotherapy regimens

  Study EGAS00001007404

• Precise reconstruction of the tumor microenvironment using bulk RNA-seq and a unique machine learning-based algorithm trained on artificial transcriptomes

  Study EGAS00001006272

• Targeted gene panel sequencing of leiomyosarcoma

  We conducted MSK-IMPACT sequencing of leiomyosarcoma.

  Study EGAS50000000595

• Single cell RNA sequencing reveals induced bifurcated differentiation after RUNX1::RUNX1T1 depletion in patient-derived leukemic blasts

  Study EGAS00001008050

• DAC for datasets from study 'Single-nucleus multi-omic sequencing of the human motor cortex in ALS/ALS-FTD'

  Dac EGAC50000000856

• A cycling, progenitor-like cell population at the root of atypical teratoid rhabdoid tumor subtype differentiation trajectories

  Study EGAS00001008123

• Smoking-dependent expression alterations in nasal epithelium reveal immune impairment linked to germline variation and lung cancer risk

  Study EGAS00001006137

• PEACE lung - Whole exome multiregion sequencing data

  PEACE lung - Whole exome multiregion sequencing data

  Study EGAS00001008217

• LICA-CN project - 116 liver cancer cases

  LICA-CN project - 116 liver cancer cases

  Study EGAS00001002300

• Whole_exome_sequencing_of_inflammatory_bowel_disease_cases

  Whole exome sequencing of around 700 inflammatory bowel disease cases.

  Study EGAS00001000530

• ChIP-Seq of TFEB in LT-HSC

  ChIP-Seq of TFEB in LT-HSC

  Study EGAS00001005462

• Integrative Molecular Classification of Meningiomas

  Integrative Molecular Classification of Meningiomas

  Study EGAS00001004982

• Cell-free DNA cleavages analysis (human)

  Cell-free DNA cleavages analysis (human)

  Study EGAS00001006701

• Datasets 929/938

  Datasets Galaxy 929/938 describe the amplified single chromosome sequencing data.

  Dataset EGAD00001004457

• Complete Genomics dataset for study EGAS00001002275.

  TBD

  Dataset EGAD00001003187

• Determining Genetic Role in Treatment Response to Anti-Platelet Interventions (The PAPI Study)

  CHD is the leading cause of death in the United States. One of the most common ways to prevent CHD is to take an anti-platelet agent, which lessens platelet aggregation. Two of the most common anti-platelet agents are aspirin and clopidogrel. However, up to 25% to 30% of people do not respond to these medications. Evidence indicates that treatment response may be related to genetics. The purpose of this study is to determine specific gene variants that predict response to aspirin and clopidogrel therapy. This study is part of a larger group of studies called the Pharmacogenomics Research Network (PGRN). Participants are from the Old Order Amish of Lancaster, Pennsylvania. They are well suited for genetic studies because they are a homogenous, closed, founder population. Participants received 300 mg of clopidogrel on the first day, then 75 mg of clopidogrel per day for the next 6 days. On the last day of clopidogrel treatment, participants took a single dose of 324 mg aspirin. Participants underwent platelet function tests before and after clopidogrel alone, and then again after taking clopidogrel plus aspirin. Using the gene variation profiles across the genome, researchers analyzed which variants correspond to treatment response.

  Study phs000391

• Joslin Study on the Genetics of Type 2 Diabetes

  Between 1993 and 2003, families were recruited in the Joslin Study on the Genetics of Type 2 Diabetes for the presence of an autosomal dominant mode of inheritance of diabetes. Recruiting and screening of families occurred through probands who were receiving medical care at the Joslin Clinic (Boston, MA). Screening of families included 1) a proband and at least one sibling with type 2 diabetes, 2) diabetes occurring in at least three generations, 3) diabetes inherited on one side of the prospective family. Probands had to have a diabetes diagnosis between the age range from 10 to 60 years. Demographic data, clinical data, and family history were collected from participating family members, along with blood and urine samples. This study includes genetic and phenotypic data from one family examined in Simeone, Wilkerson, et. al. (NPJ Genomic Medicine 2022, PMID: 35869090). Genotype data for 14 family members and whole genome sequencing data for 6 individuals were generated with the goal of identifying a potential genetic cause of disease in this family. To de-identify this family and protect confidentiality, information on sex in phenotype data and variants identified in X, Y, and MT chromosomes have been removed in compliance with IRB guidelines.

  Study phs002959

• Study of the Human Skin Metagenome Associated with Acne

  Studies have emphasized the importance of disease-associated microorganisms in perturbed communities, however, the protective roles of commensals are largely under recognized and poorly understood. Using acne as a model disease, we investigated the determinants of the overall virulence property of the skin microbiota when disease- and health-associated organisms coexist in the community. By ultra-deep metagenomic shotgun sequencing, we revealed higher relative abundances of propionibacteria and Propionibacterium acnes phage in healthy skin. In acne patients, the microbiome composition at the species level and at P. acnes strain level was more diverse than in healthy individuals, with enriched virulence-associated factors and reduced abundance of metabolic synthesis genes. Based on the abundance profiles of the metagenomic elements, we constructed a quantitative prediction model, which classified the clinical states of the host skin with high accuracy in both our study cohort (85%) and an independent sample set (86%). Our results suggest that the balance between metagenomic elements, not the mere presence of disease-associated strains, shapes the overall virulence property of the skin microbiota. This study provides new insights into the microbial mechanism of acne pathogenesis and suggests probiotic and phage therapies as potential acne treatments to modulate the skin microbiota and to maintain skin health.

  Study phs001655

• Search for Susceptibility Genes for Diabetic Nephropathy in Type 1 Diabetes (GoKinD study participants and parents), NIDDK

  Genetics of Kidneys in Diabetes (GoKinD) study is an initiative aimed at identifying susceptibility genes for diabetic nephropathy in type 1 diabetes. A large number of individuals with type 1 diabetes were screened to identify two subsets, one with clear-cut kidney disease and another with normal renal status despite long-term diabetes. Those who met additional entry criteria and consented to participate were enrolled. When possible, both parents were also enrolled to form family trios. Altogether, GoKinD includes 3043 participants comprising 931 cases, 944 singletons, 268 pairs of parents of cases, and 316 pairs of parents of control. Accessible as a GAIN database are 905 of the cases, 890 of the controls, 10 pairs of parents of cases and 10 pairs of parents of controls (dbGaP phs000018 Search for Susceptibility Genes for Diabetic Nephropathy in Type 1 Diabetes (GoKinD study participants), GAIN). The other parents and the remaining cases and controls are available by a separate application process through NIDDK. Interested investigators may request the DNA collection and corresponding clinical data for GoKinD participants using the instructions and application form available at http://www.niddkrepository.org or by contacting the Juvenile Diabetes Research Foundation.

  Study phs000088

• Search for Susceptibility Genes for Diabetic Nephropathy in Type 1 Diabetes (GoKinD study participants), GAIN

  Genetics of Kidneys in Diabetes (GoKinD) study is an initiative aimed at identifying susceptibility genes for diabetic nephropathy in type 1 diabetes. A large number of individuals with type 1 diabetes were screened to identify two subsets, one with clear-cut kidney disease and another with normal renal status despite long-term diabetes. Those who met additional entry criteria and consented to participate were enrolled. When possible, both parents were also enrolled to form family trios. Altogether, GoKinD includes 3043 participants comprising 931 cases, 944 singletons, 268 pairs of parents of cases, and 316 pairs of parents of control. Accessible as a GAIN database are 905 of the cases, 890 of the controls, 10 pairs of parents of cases and 10 pairs of parents of controls. The other parents and the remaining cases and controls are available by a separate application process through NIDDK (dbGaP phs000088 Search for Susceptibility Genes for Diabetic Nephropathy in Type 1 Diabetes (GoKinD study participants and parents), NIDDK). Interested investigators may request the DNA collection and corresponding clinical data for GoKinD participants using the instructions and application form available at Juvenile Diabetes Research Foundation. Consent groups and participant set Diabetic complications only (DCO): 1825 (904 cases, 881 controls, 40 others)

  Study phs000018

• Population Architecture Using Genomics and Epidemiology (PAGE): Epidemiologic Architecture for Genes Linked to Environment (EAGLE) - BioVU Cancer Project

  As part of Population Architecture using Genomics and Epidemiology PAGE study (Phase I), the Epidemiologic Architecture using Genomics and Epidemiology (EAGLE I) project accessed both epidemiologic- and clinic-based collections. The epidemiologic-based collection of EAGLE I included the National Health and Nutritional Examination Surveys (NHANES), ascertained between 1991-1994 (NHANES III), 1999-2002, and 2007-2008. NHANES is a population-based cross-sectional survey now conducted every year in the United States to assess the health status of Americans at the time of ascertainment and to assess trends over the years of survey. Genetic NHANES consists of 19,613 DNA samples linked to thousands of variables including demographics, health and lifestyle variables, physical examination variables, laboratory variables, and exposures. NHANES is diverse with almost one-half of the samples (46.4%) coming from self-reported Mexican Americans and non-Hispanic blacks. In contrast to NHANES, BioVU is a clinic-based collection of >150,000 DNA samples from Vanderbilt University Medical Center linked to de-identified electronic medical records (EMRs). Approximately 12% of BioVU's overall DNA sample collection is from African American, Hispanic, and Asian patients. The overall goals of PAGE I and EAGLE I were broad and several-fold: Replicate genome-wide association study (GWAS)- identified variants in European Americans; Identify population-specific and trans-population genotype-phenotype associations; Identify genetic and environmental modifiers of these associations. NHANES is an excellent resource for the study of quantitative traits associated with common human diseases. However, given that the age range of NHANES spans childhood to late adulthood and not all diseases are surveyed, NHANES is less useful for the study of adult-onset diseases such as major cancers. Therefore, under American Recovery and Reinvestment Act (ARRA) funding, EAGLE as part of PAGE I defined eight major cancers sites for genetic analysis in BioVU, Vanderbilt's biorepository linked to de-identified EMRs. The eight major cancers defined for this study included melanoma, breast, ovarian, prostate, colorectal, lung, endometrial, and Non-Hodgkin's lymphoma (NHL). Cancer cases were defined using a combination of ICD-9 codes and tumor registry entries. Controls include BioVU participants without cancer and encompassing the age and gender distributions of cancer cases. Targeted genotyping of GWAS-identified variants for these diseases (124 SNPs) and ancestry informative markers (128 AIMs) was performed by the Center for Human Genetics Research Vanderbilt DNA Resources Core. After quality control, a total of 116 cancer-associated SNPs and 122 AIMs were available for downstream analyses.

  Study phs000559