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

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• NHLBI TOPMed: Genetic Causes of Complex Pediatric Disorders - Asthma (GCPD-A)

  The Center for Applied Genomics (CAG) at the Children's Hospital of Philadelphia (CHOP) is focused on addressing the roles of both single nucleotide variants and structural copy number variants, and their functional impact, together with gene-environment interactions and their influence on asthma drug response.

  Study phs001661

• WES data of pediatric cancer patients with P/LP variants in HBOC-related genes

  The current study aimed to identify (likely) pathogenic germline variants(LP/PVs) in 25 adult-onset HBOC-related genes within a cohort of 372 pediatric cancer patients. For this purpose we performed (paired-end) whole exome sequencing (WES) using Ilumina sequencing technology. The files uploaded here belong to the 27 individuals with such a LP/PV. The project provides insight into the prevalence and spectrum of such variants in childhood cancer, contributing to the understanding of genetic predisposition in pediatric oncology.

  Dataset EGAD50000001561

• Single-cell RNA-seq, single-cell TCR-seq, single-cell ATAC-seq, and CITE-seq of human tonsillar CD4+ T cells

  To describe human tonsillar CD4+ T cells, especially IL10+ Foxp3- follicular CD4+ T cells (Tfr1, T follicular regulatory type 1), human tonsillar CD4+ T cells were analyzed with single-cell RNA-seq, single-cell TCR-seq, single-cell ATAC-seq, and CITE-seq.

  Study JGAS000805

• Genetic and epigenetic analysis of individuals with porokeratosis

  We performed genome sequencing���including whole-exome sequencing (WES), whole-genome sequencing (WGS), long-read WGS, and amplicon-seq���along with SNP array, methylation array, and RNA-seq on samples of epidermis (both lesion and non-lesion), peripheral blood, and/or cultured keratinocytes from individuals with porokeratosis.

  Study JGAS000684

• Genomic analysis of high-risk prostate cancer.

  Whole genome sequencing analysis of high risk localised primary prostate cancer samples including metastatic samples was performed across 153 tumour samples with matching germline sequencing (whole blood). Samples were all fresh frozen frozen section confirmed tumour specimens and associated clinical and pathological metadata is available for these specimens.

  Study EGAS00001003088

• Whole exome sequencing of patients with esophageal squamous cell carcinoma receiving chemoradiotherapy

  We performed multi-region whole exome sequencing (WES) of pre-treatment and recurrent esophageal cancer receiving chemoradiotherapy in order to characterize clonal evolution of treatment resistant clones. Furthermore, additional solitary pre-treatment tumor samples were subjected to WES to detect biomarkers predicting clinical outcome.

  Study JGAS000227

• Exploration of predictive biomarkers for postoperative recurrence of stage II/III colorectal cancer using genomic sequencing

  To identify biomarkers that can predict treatment outcomes, we compared the mutational profiles of surgically resected specimens from patients with recurrent cancer with those from patients with non-recurrent cancer. Target sequencing, whole-exome sequencing (WES), or whole-genome sequencing (WGS) was perfomed.

  Study JGAS000335

• Japanese Alzheimer's disease neuroimaging initiative

  Japanese ADNI aims to establish imaging and biofluid markers that can predict and monitor the progression of changes in the brains of elderly individuals with AD, mild cognitive impairment (MCI) or normal cognition, and eventually be used as a surrogate markers for the clinical trials of DMDs for AD.

  Study JGAS000051

• Identifying aberrant splicing isoforms and potential neoantigens in non-small cell lung cancer

  To identify aberrant splicing isoforms and potential neoantigens, we performed full-length cDNA sequencing of seven non-small cell lung cancer specimens using a long-read sequencer MinION. We detected aberrant splicing isoforms using our bioinformatics pipeline and constructed a comprehensive catalogue.

  Study JGAS000245

• Comprehensive molecular profiling of subsequent solid cancers after allogenic hematopoietic cell transplantation

  Subsequent solid cancers after allogenic hematopoietic cell transplantation may have unique genomic profiles compared with de novo cancers. In order to identify such profiles, we applied whole exome sequencing (WES) of subsequent solid cancers after allogeneic hematopoietic cell transplantation as well as de novo cancers.

  Study JGAS000377

• ATAC-seq and ChIP-seq analysis of patient-derived normal pancreas and pancreas neoplasm organoids

  Pancreatic cancers arise from two different precursors; intraductal papillary mucinous neoplasms (IPMN) and pancreatic intraepithelial neoplasm (PanIN), while biological differences in cancers originated from them remain obscure. Here, we analyzed their epigenomic landscape by ATAC-seq and ChIP-seq using patient-derived organoids.

  Study JGAS000264

• Whole exome sequence analysis in sporadic amyotrophic lateral sclerosis

  To identify a susceptible gene for amyotrophic lateral sclerosis, exome sequence analysis was conducted in patients with amyotrophic lateral sclerosis and control subjects to perform whole genome association studies. In this data set, exome sequencing data of 11 patients with amyotrophic lateral sclerosis was included.

  Study JGAS000013

• An imputation reference panel of HLA variants in Japanese

  We constructed a human leukocyte antigen (HLA) imputation reference panel of Japanese ancestry, which includes genotype data of HLA alleles and single nucleotide polymorphisms (SNPs) in the major histocompatibility complex (MHC) region of 908 healthy Japanese controls. Variant locations are based on NCBI build 36.

  Study JGAS000018

• Single cell RNA sequencing of human cord Blood CD34 Cells

  We performed single cell RNA sequencing and ATAC e valuation of human umbilical cord blood. To explore the differentiation pathway for human lymphoid lineage, our target cells contain CD34-positive cord blood. That population is evaluated by single cell RNA sequencing and single cell ATAC.

  Study JGAS000528

• Single-cell RNA-seq, single-cell TCR-seq, single-cell BCR-seq, and CITE-seq of B and T cells

  To describe human tonsillar CD4+ T cells, especially IL10+ Foxp3- follicular CD4+ T cells (Tfr1, T follicular regulatory type 1), human tonsillar CD4+ T cells were analyzed with single-cell RNA-seq, single-cell TCR-seq, single-cell ATAC-seq, and CITE-seq.

  Study JGAS000827

• comprehensive genetic analysis and database construction for head and neck cancer

  The main purpose is to conduct comprehensive genetic analysis of head and neck malignant tumor tissue and patient-derived blood, and to construct a database for it. By analyzing these databases, we aim to clinically identify recurrence and metastasis prediction markers and establish new molecular target therapies.

  Study JGAS000214

• Whole exome sequencing and RNA-seq of esophageal squamous cell carcinoma

  We perform integrative genome-wide analyses such as whole-exome sequencing, copy number variant(CNV) analysis, and gene expression analysis using next-generation sequencing and other methods to elucidate driver genes and signaling pathways causing tumorigenesis and cancer progression, leading novel molecular diagnostics and molecular therapies.

  Study JGAS000367

• Data Access Committee for the DNA sequencing data included in the study "Multifocal cohort analysis unveils cell types associated with regional lymph node seeding in prostate cancer".

  A data transfer agreement (DTA), based on the example DTA provided by UZ Gent, is to be filled out by the requester and Multifocal RNA-seq and tNGS data from primary and metastatic tissues of locally advanced and de novo metastatic cohorts - Data Access Committee. https://www.uzgent.be/nl/over-uz-gent/organisatie/data-access-comite/wat-zijn-de-opdrachten-van-het-data-access-comite Coordinator: Muriel Fouquet E-mail: dataaccesscommittee@uzgent.be

  Dac EGAC50000000930

• PBAT sequencing of naïve human ESCs

  This project investigates the DNA methylation landscape of naïve human embryonic stem cells (hESCs) derived from human embryos, assessing the impact of ERK inhibition (ERKi). Naïve ESCs were cultured in UXGL or PXGL media. Post bisulphite adaptor tagging protocol was used to profile genome-wide DNA methylation.

  Study EGAS50000001006

• HCA_Genotyping_Adult_Teichmann_DNA

  This project involves a genotyping dataset generated using the UK Biobank Axiom™ Array Kit from donor samples provided by the Cambridge Biorepository for Translational Medicine (CBTM). The dataset includes high-quality genome-wide array data suitable for a broad range of research applications in genomics and translational medicine.

  Study EGAS00001008228

• SDR-seq_06_BCL

  Multiomic targeted scDNA-scRNA-seq (SDR-seq) of primary B-cell non-Hodgkin lymphomas. Aim is to link genomci variants to gene expression in single cells. Profiled two follicular lymphoma (FL) primary patient samples and one germinal center subtype diffuse large B-cell lymphoma (GCB) primary patient sample.

  Study EGAS50000000374

• Whole-exome sequencing (WES) analysis of untreated head and neck cancer patient-derived xenografts (PDXs) matched patient tumor tissue and normal mucosa tissue.

  WES analysis was performed on untreated patient tumor/normal mucosa tissue and matched patient-derived xenograft (PDX) models of primary head and neck squamous cell carcinoma (HNSCC) to investigate the preservation of tumor-specific genomic alterations in the in vivo context.

  Study EGAS50000001622

• Analysis of transcriptomic landscape of iPSC-derived neurons in Williams Syndrome

  To analyse the transcriptomic changes in iPSC-derived neuronal cells derived from individuals with Williams syndrome vs. controls at different stages of neuronal maturation. This was done to better understand how the deletion responsible for WS alters neuronal development thereby resulting in the characteristic WS phenotype

  Study EGAS50000001214

• Perioperative nivolumab or nivolumab plus ipilimumab in resectable diffuse pleural mesothelioma: Primary phase 2 trial results with ctDNA residual disease analyses

  This data set includes sequence files from whole genome sequencing of tumor (n=28), normal (n=28), and blood (n=113) specimens from a phase 2 clinical trial of neoadjuvant nivolumab and nivolumab/ipilimumab in resectable diffuse pleural mesothelioma (NCT03918252).

  Study EGAS50000001195

• Non-coding mutations drive persistence of a founder pre-leukemic clone which initiates late relapse in T-ALL

  T-ALL relapse usually occurs early but can occur much later, which has been suggested to represent a de novo leukemia. However, we conclusively demonstrate late relapse can evolve from a pre-leukemic subclone harbouring a non-coding mutation that evades initial chemotherapy.

  Study EGAS50000000129