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

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• Recurrent Somatic Mutations in CLL

  Study EGAS00001000070

• Genetic alterations in metastatic uveal melanoma

  Study EGAS00001003303

• Whole-exome sequencing of NTHL1 deficient tumors

  Study EGAS00001003400

• OSCC WES + WGS Boot et al. 2020

  Study EGAS00001004376

• DAC for study PTP and Vel Exome Sequencing

  Dac EGAC00001000013

• DAC for study EGAS00001003438: Clonal Heterogeneity in Glioblastoma

  Dac EGAC00001001118

• DAC for the study EGAS00001003368

  Dac EGAC00001001270

• DAC for Angiosarcoma Study. National Cancer Centre Singapore.

  Dac EGAC00001001311

• DAC for the study EGAS00001004301

  Dac EGAC00001001571

• Weill Cornell Medicine Human Breast Transcriptome Study Commitee

  Dac EGAC00001001739

• HERM Karolinska Institute study of NK cell differentiation

  Dac EGAC00001001960

• Swedish Bipolar Disorder exome sequencing (SWEBIC)

  Study EGAS00001005860

• Noninvasive prenatal molecular karyotyping from maternal plasma

  Study EGAS00001000439

• Cetuximab treatment of metastasis-derived organoids (LMO)

  Study EGAS00001006601

• Placental microRNA sequencing data from human placenta

  Study EGAS00001005378

• GWAS Steroid Sensitive Nephrotic Syndrome

  Study EGAS00001003607

• Hi-C on the OCIAML-2 Cell Line

  Study EGAS00001004743

• Circadian Clock Properties of T2D Patients

  Study EGAS00001003622

• APL Oxford Nanopore sequencing - nanome

  Study EGAS00001005613

• Comparative analysis of RAF depletion vs. MAPK inhibition

  Study EGAS00001005743

• Paired healthy & tumor organoid Biobank _B15PON

  Study EGAS00001005865

• RNA-seq data from 27 glioblastoma samples

  Study EGAS00001005807

• TLR7 variants in human lupus patients

  Study EGAS00001005965

• RNAseq analysis on metastasis-derived organoids (LMO)

  Study EGAS00001007024

• Non-small cell lung cancer sequencing

  Study EGAS00001005499

• Multi-region sequencing of PDAC patients

  Study EGAS00001007379

• Platelet DNA study Murphy et al 2023 DAC

  Dac EGAC00001003034

• Single-cell analysis of retinoblastoma heterogeneity

  Study EGAS00001005178

• Single-Cell NSC DAC – ADHD and Control iPSC Study

  Dac EGAC00001003572

• ATACseq in blood-derived monocytes from CGD patients

  Study EGAS00001005915

• Berlin Neuroblastoma Dataset

  Study EGAS00001004022

• Leeds_Melanoma_Cohort

  Leeds Melanoma Cohort

  Study EGAS00001001158

• Comparison of the performance of two commercial genome-wide association study genotyping platforms in Han Chinese Samples

  Affymetrix 6.0, Illumina OMNIExpress, and llumina Immunochip genotype data for Han Chinese population including rheumatoid arthritis cases and controls. Data is in PLINK binary format. Illumina genotype clustering was performed using Illumina’s BeadStudio software. SNPs were reclustered using the study samples, low quality subjects were removed, and a subset of clustering results were manually inspected and verified. All SNPs with GenCall scores less than 0.15 were excluded. For Affymetrix chips, clustering was performed using the program Birdseed version 2, as implemented using Affymetrix Genotyper Console v4.0, using the default quality control (QC) thresholds.

  Study EGAS00000000131

• Genetics of Pigmentation in Eastern and Southern African Populations Study

  The goal of this study was to identify genes and loci associated with pigmentation in African populations. It comprises 1,593 participants from Ethiopia, Tanzania, and Botswana. Sexes are evenly represented (768 males and 825 females) and self reported ages ranged from 18 to 103. Mean age was used for individuals without ages. For each participant, a DSM II color meter was used to measure underarm skin reflectance in triplicate. These measures averaged and converted to a melanin index (MI = 100 x log10(1/(x/255)). All individuals were included in a genome wide scan that accounted for age, sex, and genetic relatedness.

  Study phs001396

• A Phase I/IB Study of Ipilimumab or Nivolumab in Patients With Relapsed Hematologic Malignancies After Allogeneic Hematopoietic Cell Transplantation

  Relapse after allogeneic hematopoietic stem cell transplantation (HSCT) is characterized by poor outcomes and novel therapeutic options are urgently needed. Immune checkpoint blockade using CTLA-4 and PD-1 blocking antibodies are a potential concept for reinstating a dormant graft-versus-leukemia (GvL) effect.This study investigated transcriptomic changes in biopsies obtained from patients who received immune checkpoint blockade for relapsed hematologic malignancy post-HSCT and elucidated transcriptional programs associated with successful reinvigoration of GvL. Differential gene expression analysis showed evidence of increased T cell infiltration in biopsies of responders to ipilimumab treatment and demonstrated shared gene programs between GvL and GvHD.

  Study phs002377

• My Pediatric and Adult Rare Tumor (MyPART) Natural History Study of Rare Solid Tumors

  The goal of this study is to comprehensively and longitudinally evaluate the natural history of patients with rare solid tumors or tumor predisposition syndromes, estimating and defining their clinical spectrum (e.g. disease course and survival). Clinical data, patient reported outcomes (PROs), and biospecimen associated data are collected. Clinical data includes response to treatment, tumor pathology, and imaging. PROs include measures of pain, depression, anxiety, mobility, and cognitive functioning. Biospecimen data includes next-generation sequencing [RNAseq, whole exome sequencing (WES), whole genome sequencing (WGS), EPIC methylation array data, and TruSight Oncology 500 gene panel sequencing], cytokine analysis of plasma, immune phenotyping of circulating peripheral blood mononuclear cells.

  Study phs003143

• Whole-genome variant calling of individuals from the study of allergic diseases in the Canary Islands

  Research study of genetic susceptibility and analyses of polygenic risk scores in allergic diseases. The historic influences in the Canary Islanders have resulted in an admixture of European, North Africans and Sub-saharan African genetic ancestries. Genetic risks linked to any of these ancestries could underlie disease peculiarities in the current inhabitants. To leverage genectic ancestry to identify and assess genetic risks in allergic diseases in the Canary Islands, we combine different genomic technologies in case-control studies and reference samples from the three parental populations to characterize and identify genetic risks factors and the intersection with ancestry.

  Study EGAS50000000299

• Circulating cell-free DNA methylation profiles as noninvasive multiple sclerosis biomarkers: A proof-of-concept study

  In chronic neurodegenerative diseases such as multiple sclerosis (MS), there is a critical unmet need for cost-effective non-invasive blood biomarkers to concurrently classify disease subtypes, monitor disability severity, and predict long-term progression. In this proof-of-concept study, we performed low-coverage whole-genome bisulfite sequencing (WGBS) on 75 plasma cell-free DNA (cfDNA) samples collected from a well-characterized real-world prospective clinic cohort with longitudinal disability outcome measurements. We assessed the clinical utility of cfDNA methylation profile for differentiating MS patients from non-MS controls, classifying MS subtypes, estimating disability severity, and predicting disease trajectories.

  Study EGAS50000001277

• Feasibility Study to Identify the Optimal Adjuvant Combination Scheme of Ipilimumab and Nivolumab (OpACIN) in resectable stage III melanoma patients

  OpACIN is a feasibility study including 20 patients with palpable stage III melanoma that were 1:1 randomized to receive ipilimumab 3mg/kg and nivolumab 1mg/kg, either 4 courses after surgery (adjuvant arm), or 2 courses prior to surgery and 2 courses post-surgery (neoadjuvant arm). WES and RNA-seq was performed on baseline biopsy material and correlated with outcome of the patients (relapse free survival). TCRseq from baseline tumor samples was used to analyse the top 100 tumor resident clones and analyse their change in PBMC comparing baseline versus week 6 of immunotherapy.

  Study EGAS00001003099

• Molecular profiling of longitudinally observed small colorectal polyps: a cohort study

  Knowledge of the natural history of colorectal adenomas is limited because these lesions are removed upon detection. The few studies in which small adenomas have been left in situ for a limited period of time have shown that most lesions remain stable or even completely vanish. Lesions that have grown in size more often turn out to be advanced adenomas when resected. Specific DNA copy number changes (cancer associated events or CAEs) are associated with progression of adenomas to cancer. The aim of the study was to evaluate whether growth of small colorectal polyps left in situ is associated with specific molecular features.

  Study EGAS00001003284

• Mapping_regulatory_variation_in_sensory_neurons_using_IPS_lines_from_the_HIPSCI_project

  Sensory neurons are nerve cells that are activated by sensory input such as heat, light and convey information to the brain. Although a key cell type in complex organisms, human sensory neurons are challenging to study because they are impossible to obtain from living donors. We have collaborated with the Neucentis Pharmaceutical Research Unit to differentiate sensory neuron like cells from human induced pluripotent stem cells derived as part of the Human Induced Pluripotent Stem Cells Initiative. We will sequence RNA from 100 IPS lines derived from healthy individuals and perform RNA-seq on the differentiated cells to identify noncoding variants that alter gene expression in human sensory neurons.

  Study EGAS00001001149

• CASCADE metastatic melanoma study

  In this study we analyse the evolution of human melanoma from early to late disease in patients by sampling their tumours at multiple sites and times. Whole exome and genome sequencing data from tumour samples reveals only limited gain of point mutations generally, with net mutational loss in some metastases. In contrast, melanoma evolution is dominated by whole genome doubling and large-scale aneuploidy, in which widespread loss of heterozygosity sculpts the burden of point mutations, neoantigens and structural variants even in treatment-naïve and primary cutaneous melanomas in some patients. These results imply that dysregulation of genomic integrity is a key driver of selective clonal advantage during melanoma progression.

  Study EGAS00001004950

• Whole-genome sequencing of normal Singaporean volunteers

  Study EGAS00001003570

• Clonal evolution in myelofibrosis during ruxolitinib therapy

  Study EGAS00001003829

• The Genomic Landscape of Prostate Cancer Brain Metastases

  Study EGAS00001004557

• Study of pediatric hepatocellular carcinoma with BSEP deficiency

  Dac EGAC00001000191

• DAC for study Hypothalamic transcriptome in Prader-Willi syndrome

  Dac EGAC00001000869

• DAC for Genomic landscpae of Chordoid Glioma study

  Dac EGAC00001000906

• DAC for study Non-coding RNAs in Breast Cancer

  Dac EGAC00001001090

• DAC for Peritoneal Mesothelioma sequencing study (LAGA-VPC)

  Dac EGAC00001001093