13402 results for ""pdc"+"heritage+language"+census+study"

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• Whole Exome Sequencing of Parathyroid Cancer Identifies Candidate Driver Mutations and Core Pathways

  Here we performed genomic characterization of twenty-nine sporadic parathyroid cancers using next generation whole exome sequencing. Thirty-three novel candidate driver genes for sporadic parathyroid cancer were proposed, in addition to previously known driver genes CDC73 and MEN1.

  Study phs001765

• NCI's Collection of Datasets for Health, Medical, and Biomedical Research Purposes

  This collection provides access to NCI's collections of datasets for the purpose of performing health, medical, or biomedical (HMB) research. This collection would not support ancestry lineage research not related to a specific medical or health conditions.

  Study phs003044

• The Normal Human Tissue Sequencing Project: Non-Diseased, Non-Malignant Tissues

  The Normal Human Tissue Sequencing Project provides RNA expression and DNA methylation data from normal (non-diseased) human tissues. This data set from a variety of source tissue is a valuable resource for human disease studies.

  Study phs000819

• Chromosome Errors in Human Eggs and Natural Fertility

  The overall aim of this project is to investigate chromosome errors in human oocytes as a function of age. We aimed to identify molecular mechanisms underpinning these errors and how they may shape the curve of natural fertility in humans.

  Study phs001922

• Genomic Characterization of Brain Metastases from Lung Cancer

  Metastatic disease to the brain is associated with a poor prognosis. Our understanding of the genetic drivers of metastasis remain limited. Whole-exome sequencing was performed from brain metastases from lung adenocarcinoma to identify putative drivers of metastatic progression.

  Study phs001920

• Massively Parallel Single-Cell RNA-Sequencing of Chronic Rhinosinusitis Nasal and Sinus Tissue

  Single-cell RNA sequencing (scRNA-seq) using the SeqWell V1 platform on sinus mast cells flow cytometrically sorted from the nasal polyps of patients with chronic rhinosinsusitis (CRS) with nasal polyps (CRSwNP) and aspirin-exacerbated respiratory disease (AERD).

  Study phs002333

• Systematic Analysis of Coding and Non-coding Elements in Developmental Pathways Implicated in Holoprosencephaly Pathogenesis

  We applied targeted capture to examine 153 genes representative of all the major vertebrate developmental pathways among 340 probands and 285 of their unaffected parents to rank their relative significance as causes for holoprosencephaly (HPE).

  Study phs001653

• Germline Genetic Variants in Cancer-Susceptibility Genes in Patients with Osteosarcoma

  We conducted whole-exome sequencing of germline DNA from patients with osteosarcoma to estimate the frequency of pathogenic/likely pathogenic germline genetic variants in known cancer-susceptibility genes in a large population of osteosarcoma patients unselected for family history.

  Study phs002444

• An Omics View of Asthma through Monozygotic Twins

  The etiology of asthma involves both genetic and non-genetic factors. We performed whole transcriptome sequencing on monozygotic twins discordant or concordant for asthma (with concordant healthy twins as controls), and identified multiple potential transcriptomic profiles associated with the asthma phenotype.

  Study phs000886

• Single Cell ATAC-Seq of MELAS

  This dataset includes combined single Assay for Transposase-Accessible Chromatin, using sequencing (ATAC-seq), and mitochondrial DNA sequencing of peripheral blood mononuclear cells from three individuals with m.3243A>G associated MELAS (Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like episodes).

  Study phs002217

• Kids First: Genetics of Kidney and Urinary Tract Malformations

  Congenital defects of the kidney and urinary tract are a common cause of kidney failure in children and adults and elucidation of the genetics of these disorders will provide new opportunities for diagnosis, risk stratification and prevention of complications.

  Study phs002162

• Characterization of Clonal Evolution in Microsatellite Unstable Metastatic Cancers through Multi-Regional Tumor Sequencing

  Whole exome sequencing was performed on blood and multiple tumor samples from six patients with known microsatellite unstable tumors. Subclones within each tumor site were identified and within each subclone, differing microsatellite instability was characterized.

  Study phs001925

• Eosinophil Activation and Function in Parasitic Infections and Other Conditions with Increased Tissue or Peripheral Blood Eosinophilia in Humans

  Whole-genome sequencing of tumors and matched normal samples from 11 patients with PDGFR-rearranged hypereosinophilic syndrome reveals simple genomic alterations in this disease without recurrent somatic changes besides the known rearrangement.

  Study phs003180

• Resolution of Ring Chromosomes, Robertsonian Translocations, and Complex Structural Variants from Long-Read Sequencing and Telomere-to-Telomere Assembly

  These data were generated to test the hypothesis that long-read whole genome sequencing and optical genome mapping could resolve clinically relevant human structural genomic variation involving complex and/or repetitive portions of the genome.

  Study phs003779

• Indonesian Microbiome Ecology and Evolution v1 - Data Access Policy

  This Data Access Policy sets forth the terms, conditions, and limitations governing access to and use of the raw sequencing data of samples in the Indonesian Microbiome Ecology and Evolution (IndoMEE) v1 dataset by individuals who are not part of the Data Producer. The IndoMEE v1 dataset comprises 126 human faecal samples collected across Indonesia between 2015 and 2021, that was collected to study patterns of human microbiome variation across Indonesia’s diverse geography and lifestyles.

  Dac EGAC50000000587

• Single-cell gene expression profiling of human iPSCs-derived cortical organoids

  To investigate the relationships between cerebral cortical organoid morphological characteristics and cellular composition, we morphologically classifi ed human iPSC-derived cortical organoids and analyzed the cellular makeup of each morphological type by single-cell gene expression profi ling.

  Study JGAS000726

• Target bisulfite sequencing of uterine cervical cancer

  We performed targeted bisulfite sequencing of the HLA-A promoter region in cervical tissue samples to investigate DNA methylation patterns that regulate immune recognition and antigen presentation, which may influence viral immune surveillance and malignant transformation in cervical pathology.

  Study JGAS000825

• Whole exome sequencing of uterine cervical cancer

  We conducted whole-exome sequencing of cervical tissue samples to evaluate HLA loss of heterozygosity (LOH) and B2M gene mutations, which are key mechanisms of immune evasion that allow cancer cells to escape T-cell recognition and antigen presentation.

  Study JGAS000824

• Analysis of lymphocytes specific gene expression pattern by RNA-Seq in patients with IgG4-related disease: Comparison between submandibular glands and peripheral blood

  We compared the gene expression of PanT and CD19+B cells by RNA-Seq between SMGs versus PBMCs in IgG4-RD, or IgG4-RD versus pSS versus HCs in PBMCs.

  Study JGAS000630

• Prediction of response to preoperative chemoradiotherapy in rectal cancer based on whole-exome sequencing and transcriptomic analysis

  Accumulating evidence suggests that radiotherapeutic success has an immune-associated component. We aimed to investigate the immunogenomic profiles associated with response to preoperative chemoradiotherapy (CRT) in patients with locally advanced rectal cancer.

  Study JGAS000158

• Whole genome sequencing, DNA methylation, and gene expression data from gastrointestinal stromal tumor 30 patients

  We performed WGS along with genome-wide DNA methylation and gene expression analyses in 30 GIST cases to determine the genomic and epigenomic differences between KIT exon 11 557���558 deletions and other KIT exon 11 mutations.

  Study JGAS000604

• Whole exome sequence and transcliptomic analysis of tumor tissues with hepatocellular carcinoma and metastatic liver cancer

  We used our pipeline to select neoepitopes with high immunogenicity from the tumor tissues of 46 patients with hepatocellular carcinoma or metastasis of colorectal carcinoma by whole exome sequence and transcriptomic analysis with tumor tissue.

  Study JGAS000507

• exploration of biomarkers in colorectal cancer

  Targeted therapies based on the molecular and histological features of cancer types are becoming standard practice. To understand the molecular basis of colorectal cancer, we performed CAGE (Cap Analysis of Gene Expression) to quantify promoter activities on 45 colorectal cancers.

  Study JGAS000489

• Building a Database of Genomic Structural Variants in Japanese population

  Purified genomic DNA was purchased from Japanese Collection of Research Bioresources (Japanese B cell DNA bank), National Institutes of Biomedical Innovation, Health and Nutrition in Japan. We sequenced those genomic DNAs using PacBio Sequel II and analyzed genomic structural variations.

  Study JGAS000596

• Building a Database of Genomic Structural Variants in Japanese population

  Purified genomic DNA was purchased from Japanese Collection of Research Bioresources (Japanese B cell DNA bank), National Institutes of Biomedical Innovation, Health and Nutrition in Japan. We sequenced those genomic DNAs using PacBio Sequel II and analyzed genomic structural variations.

  Study JGAS000505