1567 results for "Sweden+NDA+enforceability+one+party+signed"

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• Genomic characterization of 9p- syndrome

  We characterized the precise genomic breakpoints of the complex structural variant associated with 9p- syndrome in one individual.

  Study phs002054

• Compilation of Aggregate Genomic Data for General Research Use

  This study contains all authorized aggregate genomic data from datasets currently in dbGaP that are approved for general research use (GRU) and have no further limitations beyond those outlined in model Data Use Certification Agreement. Access to this study will be granted for one year and any additional authorized aggregate GRU datasets that become available during this one-year period. This study does not include individual-level data.

  Study phs000501

• Characterization of High-Grade Serous Ovarian Cancer Subtypes via Single-Cell and Spatial-Transcriptomics Profiling

  We measured gene expression in single-cell RNA sequencing samples from patients with high-grade serous ovarian cancer (HGSOC), for a study on improving HGSOC subtype definition by taking into account varying cell type proportions within tumors. The initial dataset (added October, 2020) contains 3 samples (3 individuals). The next dataset (added November, 2022) contains 34 samples from 8 individuals. The samples in the second dataset were sequenced in five different ways: 1) rRNA depletion and bulk RNA sequencing of tumor chunks, 2) rRNA depletion and bulk RNA sequencing of dissociated cells, 3) poly-A capture and bulk RNA sequencing of dissociated cells, 4) poly-A capture and scRNA sequencing of dissociated cells, 5) barcoding and pooling cells and scRNA sequencing (2 pools of 4 samples each). The third dataset (added June, 2024) contains data from one spatially resolved transcriptomics experiment (4 samples, one per Visium capture area, describing one tumor from one individual) and scRNA sequencing on 5 samples (5 individuals).

  Study phs002262

• Exome sequencing of primary and relapse neuroblastoma

  In this dataset, 16 trios- primary tumor, relapse and corresponding normals- for patients with neuroblastoma are provided. For one patient, more than one relapse was available for the analyses.

  Dataset EGAD00001001607

• Whole Exome and Whole Genome Profiling as well Genome-Wide Methylation Profiling from Early to Advanced Chronic Lymphocytic leukemia (CLL), Genome-Wide Methylation Profiling in Monoclonal B Cell Lymphocytosis (MBL)

  Serial whole exome sequencing of samples collected from 21 patients at multiple time points during progression from early to late chronic lymphocytic leukemia (CLL) and one matching non-tumor tissue sample from each patient. Additional whole genome sequencing of samples from 3 selected patients. Genome-wide B cell methylation compared between 5 healthy donors from the same age group as patients, 20 patients with monoclonal B cell lymphocytosis and in serial CLL samples with matching whole exome sequencing. Moreover, genome-wide single-cell RRBS-profiling of B cells from one healthy donor and from one patient with CLL was performed using a protocol newly developed by the A. Meissner group.

  Study phs001431

• Autosomal recessive

  To define a genetic syndrome of combined immunodeficiency, severe autoimmunity, and developmental delay, 4 patients from two families who had similar syndromic features were studied. To identify disease-causing mutations, we performed whole exome sequencing for one patient and her healthy parent from Family 1 and also for one patient from Family 2. Disease segregated with novel autosomal recessive mutations in a single gene, tripeptidyl-peptidase II (TPP2) gene. The result defines a new human metabolic immunodeficiency.

  Study phs000848

• Genetic Landscape of Esophageal Squamous Cell Carcinoma Defined by Exome Sequencing on Chinese Patient Cohort and Cell Lines

  Esophageal Squamous Cell Carcinoma (ESCC) is one of the deadliest cancers worldwide. To define the genetic landscape of ESCC, whole exome sequencing was performed on 113 pairs of tumor and normal DNA samples collected from Chinese individuals with treatment-naive primary ESCC, along with 8 cell lines, including 7 from KYSE series ESCC cell lines and one immortalized esophageal squamous epithelial cell line Het-1A.

  Study EGAS00001000932

• Study of the rare and low frequency variants in the Saguenay-Lac-Saint-Jean population

  The Saguenay–Lac-Saint-Jean (SLSJ) region is located in northeastern Quebec and is known for its unique demographic history and founder effect. Since founder populations are enriched with population-specific variants, we characterized the variants distribution in SLSJ and compared it with four European populations (Finnish, Sweden, United Kingdom and France), of which the Finnish population is another founder population. Targeted sequencing of the coding and non-coding immune regulatory regions of the SLSJ asthma familial cohort and the four European populations were performed. Rare and low-frequency coding and noncoding regulatory variants identified in the SLSJ population were then investigated for variant- and gene-level associations with asthma and allergy related-traits (eosinophil percentage, immunoglobulin (Ig)E levels and lung function). Our data showed that (1) rare or deleterious variants were not enriched in the two founder populations as compared to the three non-founder European populations; (2) a larger proportion of founder population-specific variants occurred with higher frequencies; and (3) low-frequency variants appeared to be more deleterious. Furthermore, a rare variant, rs1386931, located in the 3’UTR of CXCR6 and intron of FYCO1 was found to be associated with eosinophil percentage. Gene-based analyses identified NRP2, MRPL44 and SERPINE2 to be associated with various asthma and allergy related traits. Our study demonstrated the usefulness of using a founder population to identify new genes associated with asthma and allergy-related traits; thus better understand the genes and pathways implicated in pathophysiology.

  Study EGAS00001003103

• pediatric AML genomic sequences

  This dataset contains whole sequencing data from 30 patients with pediatric AML. For each patient, there is one dataset derived from tumor cells and one dataset derived from a matched non-malignant control.

  Dataset EGAD50000001572

• Paired WGS samples (tumor and control) of one Sarcoma case

  Paired WGS samples (tumor and control) of one Sarcoma case. The paired sequencing was done on Hiseq X Ten with Illlumina TruSeq Nano DNA.

  Dataset EGAD00001010277