14663 results for "PLOS+ONE+Pennsylvania+German+ACS+language+code+pdc+open+access+study"

in 22.49 milliseconds.

• Multi Omics of glioma in the the Chinese Glioma Genome Atlas (CGGA) project

  Study EGAS00001004729

• Mixed Histology Lung Cancers Driven by Transcriptomic Features rather than Genomic Characteristics

  Study EGAS00001005140

• Whole-genome and transcriptome sequencing of blastic plasmacytoid dendritic cell neoplasm

  Study EGAS00001003660

• Targeted next-generation sequencing of 13 chordoid gliomas of the third ventricle

  Study EGAS00001002733

• Bone metastatic biopsies of breast cancer patients progressing on endocrine therapies.

  Study EGAS00001004268

• Male-biased migration from East Africa introduced pastoralism into southern Africa

  Study EGAS00001005232

• Somatic mutations in lymphocytes in patients with immune-mediated aplastic anemia

  Study EGAS00001004994

• Detailed molecular and immune marker profiling of archival prostate cancer samples

  Study EGAS00001004396

• Longitudinal single-cell transcriptomics reveals distinct patterns of recurrence in acute myeloid leukemia

  Study EGAS00001005819

• Multiscale heterogeneity in gastric adenocarcinoma evolution is an obstacle to precision medicine

  Study EGAS00001004525

• Evaluation of the immune effects of tumor-treating electric fields (TTFields) in GBM patients

  Study EGAS00001005392

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

  Study EGAS00001005458

• Single-cell characterization of anti-LAG3+anti-PD1 treatment in melanoma patients

  Study EGAS00001005580

• Tumour evolvability metrics predict recurrence in advanced localised prostate cancer (tumour data)

  Study EGAS00001006096

• Tumour evolvability metrics predict recurrence in advanced localised prostate cancer (normal data)

  Study EGAS00001006098

• Dataset with genome-wide array data from 64 Tunisian and 45 Moroccan individuals.

  Study EGAS00001006427

• TK-EPN862 - Patient-dervied xenograft model of Posterior Fossa A Ependymoma - WGS

  Study EGAS00001006843

• WGS of KCNQ2 R201C patient derived iPSC and its isogenic line

  Study EGAS00001007231

• Exploration of neuroblastoma xenograft models for tumor extracellular RNA profiling in murine blood plasma

  Study EGAS00001007295

• Determining genome-wide binding of ETS2 by CUT&RUN in primary human macrophages

  Study EGAS00001007560

• Single-cell sequencing of adipose-derived mesenchymal stromal cells and dermal fibroblasts

  Study EGAS00001006954

• Breast tissue methylation analysis

  Study EGAS00001005070

• Follicular Lymphoma Whole Genome and Transcriptome Sequencing

  Study EGAS00001006646

• Genomics-based characterization and personalized treatment in pleural and peritoneal mesothelioma

  Study EGAS00001007294

• Induction of trained immunity by influenza vaccine: impact on COVID-19

  Study EGAS00001005446

• Integrative pan-cancer genomic and transcriptomic analyses of refractory metastatic cancer

  Study EGAS00001006648

• Human Inflammatory Skin Disease scRNA-seq

  Study EGAS00001005271

• Platelets sequester extracellular DNA, capturing tumour-derived and free fetal DNA

  Study EGAS00001006854

• scATAC-seq and combined scRNA-seq of the human first trimester neurodevelopment

  Study EGAS00001007472

• Methylation clocks - individual colon, small intestine and endometrial crypts

  Study EGAS00001005514

• Stabilising selection causes grossly altered but stable karyotypes in metastatic colorectal cancer

  Study EGAS00001004219

• Sensitive and reproducible cell-free methylome quantification with synthetic spike-in controls

  Study EGAS00001005069

• Low_Coverage_Sequencing_of_rare_human_histiocytic_tumour

  Sequencing of rare human histiocytic tumour

  Study EGAS00001000768

• Targeted_analysis_of_chondrosarcoma_cancer_genes

  Targeted analysis of chondrosarcoma cancer genes

  Study EGAS00001001765

• Sequencing_of_rare_human_histiocytic_tumour

  Sequencing of rare human histiocytic tumour

  Study EGAS00001000591

• Primary_angiosarcoma_Whole_Genome_Sequencing

  Whole genome sequencing of primary angiosarcoma

  Study EGAS00001000851

• Angiosarcoma RNA sequencing

  Extension of angiosarcoma whole genome sequencing study

  Dataset EGAD00001000738

• Exome

  Exome Seq for Study EGAS00001001844

  Dataset EGAD00001002159

• Genome-wide DNA Copy Number Analysis of high hyperdiploid acute lymphoblastic leukemia

  Study EGAS00001007049

• Clonal Driver Neoantigen Loss under EGFR TKI and Immune Selection Pressures

  NNN

  Study EGAS00001007926

• Stromal cell diversity associated with immune evasion in human triple‐negative breast cancer

  Study EGAS00001005061

• Transcriptome sequencing in monozygotic twins discordant for Mayer-Rokitansky-Küster-Hauser syndrome

  Study EGAS00001006370

• Detection of Gene Fusions using Targeted Next-Generation Sequencing – a Comparative Evaluation

  Study EGAS00001004934

• Genome-wide methylation detection and episignature analysis using PacBio long-read sequencing

  Study EGAS00001008250

• 20200819_EGA_Qld_Melanoma.radiomics

  A radiomics study integrating PET/CT, WES and RNAseq data

  Dataset EGAD00001006375

• 3/7 Psychiatric Genomics Consortium: Finding Actionable Variation

  The goal of this study was to generate new therapeutic hypotheses by targeted sequencing of 161 genes most likely to harbor schizophrenia (SCZ) causal variants in multi-ancestry schizophrenia case-control cohorts. The gene panel was intended to contain putative SCZ risk genes, from within which, the majority of new discoveries from additional WES/WGS would come. To this end, we integrated current knowledge of the genetic architecture of SCZ (results from The Schizophrenia Exome Sequencing Meta-Analysis Consortium, or SCHEMA) and gene membership in gene sets that have been implicated in SCZ using a Bayesian framework. A total of 23,352 individuals selected to be non-overlapping with SCHEMA, as well as other previous and ongoing sequencing efforts in the field, were identified from over 20 individual study sites. Sequencing of the exonic regions of 161 prioritized genes was performed on the Ion Torrent platform in between June 2018 and April 2019. Sequencing plates were matched with respect to ancestry and case/control composition whenever possible. The average sequencing depth across all samples was 224x. Single sample calling was performed using Torrent Variant Caller v5.8.0, which is specially optimized to exploit the underlying flow signal information generated by the Ion Torrent sequencing. The schizophrenia case-control status was obtained from each original study site.

  Study phs003138

• Memorial Sloan Kettering (MSKCC) Single Cell Mutational Profiling in Myeloid Malignancies

  Myeloid malignancies have previously been characterized by large scale bulk molecular profiling studies on patient samples. These studies, while clinically informative, are unable to delineate mutation order as well as clonal architecture and complexity. To investigate the clonal framework of myeloid malignancies, the Single Cell Mutational Profiling in Myeloid Malignancies study was designed. This study performed sequencing of 148 samples from 117 adult patients diagnosed with clonal hematopoiesis (n = 21), myeloproliferative neoplasms (MPN; n = 14), and acute myeloid leukemia (AML; n = 82) between 20 and 87 years of age. Sequencing of all samples was performed using the Tapestri single cell DNA sequencing platform from Mission Bio, Inc. The platform utilizes a custom amplicon panel covering 109 amplicons across 31 genes frequently mutated in myeloid malignancies (CH, MPN, AML). Using the single cell DNA sequencing data, we were capable of elucidating clonal architecture and clonal complexity in each sample. In a subset of samples, we also performed simultaneous single cell DNA sequencing and cell surface protein expression analysis using the Tapestri DNA + Protein platform. This study allowed us to determine the expression of 7 cell surface proteins (CD3, CD11b, CD19, CD34, CD38, CD45RA, and CD90) at single cell resolution. We performed DNA+ Protein sequencing on samples from CH patients (n = 7) as well as AML patients (n = 17).

  Study phs002049

• Targeted Sequencing of GWAS Loci in Cleft Lip and Palate

  Nonsyndromic cleft lip and palate (NSCL/P) is a complex disorder caused by both genetic and environmental factors and has been the focus of an extensive effort to identify genetic risk factors. A number of candidate gene studies have been performed but have not been widely replicated. To date, four independent genome wide association studies have been performed as well as a meta-analysis. Together these studies have identified many loci associated with NSCL/P. The goal of this project is to use targeted sequencing to further characterize these regions and to progress from the association signals identified by GWAS to the identification of causative genes and/or variants. This study is part of the GWASeq project, a collaboration of five disease studies, which will sequence genomic regions from GWAS to characterize the genetic variation underlying these diseases and to compare study design and methods for the follow-up of GWAS studies by sequencing. The goal of this study is to sequence 1000+ NSCL/P case-parent trios from China and the Philippines and 400 trios of European ancestry. Targeted sequencing was performed on intervals ranging between 60kb to 1Mb surrounding 13 genes/loci previously associated with NSCL/P including: IRF6, MAFB, ARHGAP29, 8q24, PAX7, VAX1, NTN1, NOG, FOXE1, MSX1, BMP4, FGFR2, PTCH1.

  Study phs000625

• An Advanced Molecular Medicine Case Report of a Rare Human Tumor Using Genomics, Pathomics, and Radiomics

  The associated data of this study is derived from a single female patient with pulmonary sclerosing pneumocytoma (PSP). The aim of this study is to provide the most comprehensive, multi-modality sequencing study of a single case of PSP to-date. To this end, the following sequencing experiments were performed: i) RNA-Seq of the primary tumor and adjacent normal tissues (6 replicates for each tissue type), which was intended to analyze RNA-Seq fusions, gene expression, expression mutations, ii) low-pass DNA whole genome sequencing (WGS) from primary tumor tissue and germline, which was intended to analyze copy number aberrations, and iii) DNA targeted panel sequencing of lung cancer associated genes, using primary tumor tissue and germline from white blood cells, which was intended to analyze somatic mutations. Principal findings: i) the PSP hallmark mutation AKT1 (p.E17K) was detected within both the DNA and RNA, and ii) the TP53 signaling pathway was found to be statistically significant by three different pathway analysis tools of analyzing gene expression and pathway ramifications. Among proteins within the TP53 signaling pathway, the p53 inhibitor encoded by MDM2 was found to be overexpressed (by differential gene expression analysis). The original sequencing data (i.e., FastQ files) from each of the aforementioned samples will be accessible through dbGaP.

  Study phs003154

• INSIGHT (Intervention Nurses Start Infants Growing on Healthy Trajectories) Cohort

  This is a study of the biological risk factors for children enrolled in the INSIGHT (Intervention Nurses Start Infants Growing on Healthy Trajectories) study. INSIGHT is a randomized, controlled trial testing a responsive parenting intervention designed for the primary prevention of childhood obesity against a safety control. These first-born children were deeply studied in this time period with data collected on a wide variety of variables including mode of delivery, gender, weight and height (collected at 7 time points), medication usage, diet information, and maternal health information (gestational weight gain, gestational diabetes, smoking during pregnancy). This study includes a survey of the oral and gut microbiota from 226 mother-child dyads. It was designed to investigate the relationship between a cross-sectional view of the child's microbiome (at two years of age) and the patterns of growth between birth and 2 years. Microbiome samples from children (buccal swab and stool sample) and their mothers (buccal swab) are collected at the children's 2-year clinical research visit. Stool metabolites have also been assayed for a subset of the 226 children using 1H-NMR. Additionally, we genotyped the same individuals for SNPs across the genome. For a subset of 48 individuals we have added second-born siblings. For these additional 48 children, we characterized the methylation pattern across the genome using cord blood and placenta samples.

  Study phs001498