14312 results for ""Pennsylvania+German"+ACS+study+'Socius'+open+access"

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• The Sys4MS cohort: a prospective cohort of patients with Multiple Sclerosis and omics

  Study EGAS00001007145

• Distinct Phenotypes of Human Intrahepatic and Extrahepatic Bile duct Organoids and their Applications for Biliary Disease Modeling

  Study EGAS00001003792

• Two monogenic disorders masquerading as one: Severe congenital neutropenia with monocytosis and non-syndromic sensorineural hearing loss

  Study EGAS00001004176

• KDM4A regulates the maternal-to-zygotic transition by protecting broad H3K4me3 domains from H3K9me3 invasion in oocytes

  Study EGAS00001004220

• The transition from normal lung anatomy to minimal and established fibrosis in Idiopathic Pulmonary Fibrosis

  Study EGAS00001004758

• Targeting the Epichaperome As an Effective Precision Medicine Approach in a Novel PML-SYK Fusion Acute Myeloid Leukemia

  Study EGAS00001004992

• Impact of genetic variants in clinical outcome of a cohort of patients with oropharyngeal squamous cell carcinoma

  Study EGAS00001004430

• Deep MRD profiling defines outcome and unveils different modes of treatment resistance in standard and high risk myeloma

  Study EGAS00001004558

• The Genetic Basis of Preeclampsia in an Andean Population Adapted to High Altitude

  Study EGAS00001004625

• Spatiotemporal single cell transcriptomic analysis of human gut macrophages reveals multiple functional and niche-specific subsets

  Study EGAS00001005377

• Genomic Signatures Define Three Subtypes of EGFR-Mutant Stage II-III NSCLC With Distinct Adjuvant Therapy Outcomes

  Study EGAS00001005632

• Anti-Cancer Therapies Induce Mutations in Adult Stem Cells in a Tissue-Specific Manner

  Study EGAS00001006042

• ATM germline variants in a young adult with chronic lymphocytic leukemia: 8 years of genomic evolution

  Study EGAS00001006268

• Case Report: early contribution of germline and nevi genetic alterations to a rapidly-progressing Cutaneous Melanoma Patient

  Study EGAS00001006459

• Longitudinal peripheral blood DNA methylation profiling of endoscopic response to tofacitinib in moderate-to-severe ulcerative colitis patients

  Study EGAS00001006968

• TIGIT is the central player in T-cell suppression associated with CAR T-cell relapse in mantle cell lymphoma

  Study EGAS00001007113

• Elevated cfDNA after exercise is derived primarily from mature polymorphonuclear neutrophils, with a minor contribution of cardiomyocytes

  Study EGAS00001007157

• BCL3-rearrangements in B-cell lymphoid neoplasms occur in two breakpoint clusters associated with different diseases

  Study EGAS00001007465

• Targeted_NanoSeq__salivary_gland_

  Exploring the somatic mutation landscape of salivary gland disorders.

  Study EGAS00001008192

• WGSPD Project 3 - Genomic Strategies to Identify High-impact Psychiatric Risk Variants

  Study EGAS00001004838

• Persister cell phenotypes contribute to poor patient outcomes after neoadjuvant chemotherapy in PDAC (Hipo_015)

  Study EGAS00001007143

• Genetic drivers define transcriptomic characteristics and clonal hierarchy within intratumoral heterogeneity in adult T-cell leukemia-lymphoma

  Study JGAS000301

• Cryopreservation of human cancers conserves tumour heterogeneity for single-cell multi-omics analysis

  Study EGAS00001005115

• Human dnase1l3 deficiency-Mouse AAV samples

  Human dnase1l3 deficiency-Mouse AAV samples

  Dataset EGAD00001006215

• LCNEC study - WES data set

  Whole exome sequencing

  Dataset EGAD00001003815

• Jagged ends of plasma DNA (mouse)

  Jagged ends of plasma DNA (mouse)

  Study EGAS00001005563

• Evolution_of_the_cancer_epigenome_in_myeloproliferative_neoplasms_

  Evolution of the cancer epigenome in myeloproliferative neoplasms.

  Study EGAS00001001941

• Xenograft_Sequencing

  Sequencing of mouse/human carcinoma xenograft samples.

  Study EGAS00001000140

• A_cell_atlas_of_the_human_fetal_spine_SB_HDBR_Project_200532

  A cell atlas of the human fetal spine

  Study EGAS00001005090

• Jagged ends of plasma DNA (human)

  Jagged ends of plasma DNA (human)

  Study EGAS00001005562

• ATAC-seq/ChIP part

  Epigenetics: ATAC-seq and ChIP-seq data

  Study EGAS00001006520

• The genomic landscape of GCs

  whole-genome sequencing of 168 paired GCs.

  Study EGAS00001007355

• Genomic Sequencing of Triple Negative Breast Cancer - Exome data

  Exome data for study EGAS00001008261

  Dataset EGAD00001015687

• The Environmental Determinants of Diabetes in the Young Study (TEDDY)

  The Environmental Determinants of Diabetes in the Young (TEDDY) Study investigates genetic and genetic-environmental interactions, including gestational infection or other gestational events, childhood infections and other environmental factors after birth, in relation to the development of pre-diabetic islet autoimmunity and type 1 diabetes (T1D). Beginning in 2002, a consortium of six centers assembled to participate in the development and implementation of studies to identify environmental factors that trigger the development of islet autoimmunity and T1D in genetically susceptible individuals. The TEDDY study screened around 400,000 newborns and recruited 7,749 neonates from the general population with a pre-determined T1D risk of 3% and 919 neonates with first degree relatives who have T1D and who have a pre-determined T1D risk of 10%. Thus, TEDDY proposes to follow over 8,000 participants across six clinical centers worldwide (Finland, Germany, Sweden and three in the United States) until the age of 15. Participants are followed every three months for islet autoantibody measurements with blood sampling until four years of age and then at least every six months until the age of 15. After the age of four, autoantibody positive subjects continue to be followed at 3 month intervals and autoantibody negative subjects are followed at six month intervals. In addition to the analysis of autoantibodies, additional data and sample collection is performed at each visit. The parents collect monthly stool samples in early childhood. The parents also fill out questionnaires at regular intervals in connection with study visits and record information about diet and health status in the child's TEDDY Book between visits. Continued long-term follow-up of the currently active TEDDY participants will provide important scientific information on early childhood diet, reported and measured infections, vaccinations, and psychosocial stressors that may contribute to the development of type 1 diabetes and islet autoimmunity. DNA extracted from the 9-month TEDDY blood sample was used for SNP genotyping. Samples were available for 7,082 participants. SNPs were genotyped by the Center for Public Health Genomics at the University of Virginia, using the Illumina ImmunoChip SNP microarray of around 196,000 SNPs selected from 186 regions associated with 12 autoimmune diseases (including T1D) (Hadley et al., 2015). "Data quality control (QC) steps included eliminating subjects with a low call rate (> 5% SNPs missing) and discrepancies between reported gender and prior genotyping at the HLA laboratory. Secondly, SNPs were removed from analysis due to low call rate, Hardy-Weinberg equilibrium P value < 10-6, except for chromosome 6 due to HLA eligibility requirements)" (Törn et al., 2015). QC resulted in a total of 7,023 subjects with data on 176,586 SNPs. Additional information on the TEDDY study are available in the following articles: The Environmental Determinants of Diabetes in the Young (TEDDY) Study. TEDDY Study Group. Annals of the New York Academy of Science, 2008 and TEDDY - The Environmental Determinants of Diabetes in the Young - An Observational Clinical Trial. Annals of the New York Academy of Science, 2006 Details of the TEDDY protocol can be found in The Environmental Determinants of Diabetes in the Young (TEDDY): Genetic Criteria and International Diabetes Risk Screening of 421,000 infants. Pediatric Diabetes, 2011

  Study phs001037

• ALCHEMIST Study

  The ALCHEMIST study will accrue patients that are potentially eligible for the Intergroup adjuvant studies and perform central EGFR and ALK genotyping using a central reference laboratory certified by the Clinical Laboratory Improvement Amendments of 1988 (CLIA). Patients may either present prior to surgery with resectable NSCLC, may present following complete resection (before or after adjuvant chemotherapy). Eligibility is limited to those with NSCLC of a non-squamous histological subtype and those with adequate performance status and organ function for future trial eligibility. All subjects must submit tissue for central EGFR and ALK genotyping, as well as additional tissue for advanced genomics at the CCG. Subjects may have had local genotyping done prior to registration, however if these results shows no targetable EGFR or ALK alterations (or if it shows a KRAS mutation) then the patient will not be eligible for this screening protocol given the primary aim is to facilitate accrual to the adjuvant studies. All subjects will provide peripheral blood for matched normal DNA. All subjects (including those known to have EGFR or ALK alterations with local genotyping) will have formalin-fixed tissue collected for central genotyping. The testing will be performed at Response Genetics (Los Angeles, CA), a commercial CLIA-certified laboratory. ALK FISH will be performed using the Vysis break-apart probe and EGFR sequencing will be performed of exons 18-21. It is preferred that a full tumor block be submitted, but if unavailable, 15 unstained slides can be submitted. Genotyping results are expected to be provided to the treating clinician within 14 business days of submission so they can be used to determine eligibility for the randomized adjuvant studies, or to confirm the local results. Results will also be reported at intervals to the study team for update into the Alliance database. In addition to the commercial genotyping at Response Genetics, tissue will be collected for research genomics by CCG. For those patients with a block available, this will be forwarded to the CCG after clinical testing at Response Genetics. For patients without a block available, 15 unstained slides should be submitted to the CCG BCR for exploratory analysis. A peripheral blood specimen will also be collected and sent to the CCG BCR to use as matched normal. Specimens will be coded. Over the course of the study, the CCG will perform advanced genomic analysis of the resected lung cancer specimens in a research, non-CLIA environment. Following completion of the genomic analysis, the results can be matched with the clinical follow-up results using a link between the samples codes and the patient identifiers for correlative analyses. Subjects participating in the follow-up portion of the ALCHEMIST study, as well as those participating in the adjuvant therapeutic studies, are expected to undergo a standard-of-care diagnostic biopsy to confirm recurrence. At least two core biopsies, minimum, should be obtained as part of this recurrence biopsy. Paraffin embedded tissue from this biopsy will be used for confirmation of recurrence, for CLIA genomics to plan subsequent clinical trials, and for additional research genomics by the CCG. Plasma will additionally be collected at recurrence and sent to CCG for study of circulating free DNA (cfDNA). Data for the ALCHEMIST study is not yet available to be accessed by the public at this time; when ready it will be made available at the GDC Data Portal.

  Study phs001140

• University of Washington Center for Mendelian Genomics (UW-CMG): Atrioventricular Septal Defects (AVSD) Study

  The Centers for Mendelian Genomics project uses next-generation sequencing and computational approaches to discover the genes and variants that underlie Mendelian conditions. By discovering genes that cause Mendelian conditions, we will expand our understanding of their biology to facilitate diagnosis and new treatments.

  Study phs001774

• Impact of allogeneic umbilical-cord derived mesenchymal stromal cells on B-cell scRNAseq in patients with systemic lupus erythematosus

  The impact of MSC(UC) on peripheral B cells from Systemic Lupus Erythematosus (SLE) patients was studied by 10X scRNAseq. This scRNAseq study encompassed 3 SLE patients at 3 time points: before or after (1 month, and 3 months) MSC injection in order to analyze B cell subsets and their DEG. The aim of this study was to observe the potential changes of B cell subsets after MSC(UC) injection in SLE patients.

  Dataset EGAD50000000471

• Multi-omics analysis of CUD in the VS

  The aim was to molecularly characterize the human ventral striatum in CUD. For this, we generated epigenomic, transcriptomic, and proteomic datasets at the bulk-level, performed integrative multi-omics analyses and further analyzed CUD-associated transcriptomic changes at a cell type-specific level using snRNA-seq.

  Study EGAS50000000623

• RNA-Seq data from study: Molecular underpinnings of dedifferentiation and aggressiveness in chromophobe renal cell carcinoma

  The ChRCC study RNA-Seq dataset contains raw whole transcriptome sequencing data of 16 tumor and 6 adjacent normal samples from 7 UTSW patients, who have consented to depositing their genomic data to public repository. RNA-Seq was performed using 50bp single-end on a HiSeq2500 platform (Illumina, San Diego, CA, USA). 50M reads per sample on average. The raw data is in fastq format.

  Dataset EGAD50000000416

• Broad utility of ultrasensitive analysis of circulating tumor DNA (ctDNA) dynamics across solid tumors treated with immunotherapy

  Here, we applied a whole-genome, tumor-informed approach to study ctDNA in more than 202 advanced-stage cancer patients treated at VHIO. This study demonstrates the efficacy of ultrasensitive ctDNA as a broad biomarker in a large pan-cancer discovery and validation cohort, spanning 24 tumor types treated with diverse immunotherapy modalities. It demonstrates ctDNA’s potential for early response assessment, survival prediction, and distinguishing true progression from pseudoprogression, enhancing its clinical relevance. This dataset captures the plasma sequencing data from the project.

  Dataset EGAD50000001813

• PHRT study of longitudinal sampling in ovarian cancer

  High-grade serous ovarian cancer presents significant challenges due to its poor prognosis and high heterogeneity, both of which complicate treatment responses. This project aims to understand intra-patient tumor evolution by investigating different sampling sites (primary and metastatic) at the time of diagnosis and during disease recurrence.

  Study EGAS50000001424

• scRNA-seq of a 3D human cortical tissue model from human iPSCs exploring 2D versus 3D co-culturing

  Single-cell RNA-seq analysis of human iPSC-derived microglia/astrocytes/neurons in a novel, human in vitro 3D cortical tissue model, as well as 2D co-cultures for comparison. Samples include distinct conditions as described in the Study section. The dataset was generated using the BD Rhapsody technology and sequenced paired-end with Illumina NovaSeq2000. Information on the multiplexing of samples is reported in the Analyses section.

  Dataset EGAD50000002021

• High-throughput sequencing data of immunoglobulin gene rearrangements in acute lymphoblastic leukaemia - summary .fastq and .bcl files

  Immunoglobulin heavy chain gene high throughput sequencing of paediatric acute lymphoblastic leukaemia samples, for the purpose of MRD on the Illumina MiSeq platform. This dataset contains summary fastq files and raw bcl files from the MiSeq for this study. In the study we identify errors associated with multiplexing that could potentially impact on the accuracy of MRD analysis. We optimise a strategy combining high purity, sequence-optimised oligonucleotides, dual-indexing and an error-aware demultiplexing approach to minimise errors and maximise sensitivity.

  Dataset EGAD00001001983

• H3Africa Consortium WGS VCF

  Joint called VCF for whole genome sequence data from 410 samples described in the paper: PMID:33116287. It includes 314 high coverage (average 30X) samples sequenced on the Illumina X-Ten, also available as individual datasets under the H3Africa Chip study (EGAS00001002976) and 112 medium coverage (average 10X) samples from the TrypanGen study (EGAS00001002602) sequenced on Illumina HiSeq 2500. Supplementary table 3 of the paper describes the geographic breakdown of the samples. 16 samples from the Southern African Human Genome project have been removed from this VCF.

  Dataset EGAD00001008577

• Non-ADT METs ICGC Prostate UK

  To characterize the subclonal genomic architecture of non-androgen-deprived metastatic prostate cancer, we performed whole-genome sequencing (WGS) of pelvic lymph node metastases and matching noncancerous blood from 10 patients to an average sequencing depth of 55x. The patients are part of PELICAN (Project to ELIminate Lethal Cancer) study led by G. Steven Bova at Johns Hopkins University (USA) and Tampere University (Finland). As of September 2020, study using these data is: Wedge et al, Nature Genetics 2018 (PMID: 29662167)

  Dataset EGAD00001002002

• PIVUS study - Longitudinal transcriptomics - Advanced aging

  We performed RNA sequencing in whole-blood from the same 65 individuals from the PIVUS study at ages 70 and 80 (130 samples) to quantify how gene expression, alternative splicing, and their genetic regulation are altered during this 10-year period of advanced aging. Each individual has four fastq files, two for each age. Consecutive sample IDs refer to the sample individual, e.g. PIVUS003 and PIVUS004 are the age 70 and age 80 samples of the first individual.

  Dataset EGAD00001004965

• FinHer Breast Cancer Study

  The purpose of this study is to sequence 500 known cancer genes in 960 newly diagnosed high risk breast cancer patients treated with current standard of care therapies and trastuzumab, for somatic alteration and copy number changes. We will be using next gen sequencing technology to determine the prognostic relevance of these somatic genetic alterations and of teh low frequency events to determine if they are associated with trastuzumab benefit or HER2 positive breast cancer, i.e. treatment interaction. The samples will be analysed adn correlated with clinical variables including outcome.

  Dataset EGAD00001000871

• MutWP5: CRUK Mutographs of Cancer: Breast: Reduction Mammoplasty (WG)

  Sequencing of LCM-derived microbiopsies from 10 women who underwent reduction mammoplasty. Goal to assess the mutational burden, spectrum, and clonal dynamics within the tissue. Whole-genome sequencing will be conducted on samples identified as promising from the initial targeted data. Results from this portion of the study will be compared to women who had breast cancer and those who are BRCA 1/2 carriers. This dataset contains all the data available for this study on 2023-03-08.

  Dataset EGAD00001010109

• DNA methylation (RRBS) data for the validation the glioblastoma progression study (GBMatch).

  Genome-wide profiling of DNA methylation levels by RRBS in 150 glioblastoma tumor samples. Patients were selected to represent the general population of glioblastoma patients based on Austrian Brain Tumor Registry. These DNA methylation profiles were created for the validation of the glioblastoma progression study (GBMatch) and consist of 106 profiles from FFPE samples and 44 profiles from fresh-frozen samples. For the 44 fresh-frozen samples also WGS data (43 genomes) and RNA-seq data (37 transcriptomes) have been produced for validation purposes.

  Dataset EGAD00001004074

• microRNA-seq of human serum from a longitudinal study of 66 women with no history of cancer

  This dataset includes microRNA sequencing data from 198 human serum samples, representing a subset of 66 women with no history of cancer who participated in the UKCTOCS study and with serum samples collected at three timepoints over a period of up to 5 years. Small RNA libraries prepared from the serum samples were sequenced with 50-bp single end reads on an Illumina HiSeq 2000 instrument. Data is provided as FASTQ files.

  Dataset EGAD00001004348