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

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• 3D chromatin contacts of iPSC (controls) and mDAN (differentiated neurons) cells

  Sequencing of 3 replicates per condition to gather insights on the 3D chromatin conformation of iPCS-derived neuronal progenitors (smNPCs) and mDANs using LowC. The downstream analysis studies changes in A and B compartment interactions and in topologically associated domains (TADs).

  Study EGAS50000001578

• Single-nucleus transcriptome sequencing of the ALS-FTD motor cortex after sorting by TDP-43

  Single-nucleus RNA-sequencing of NeuN+ nuclei of the post-mortem human primary motor cortex from patients with ALS-FTD confirmed for TDP-43 pathology, after sorting for TDP-43 signal, TDP-43 Low vs. TDP-43 High

  Study EGAS50000001566

• Targeted proteomics for endotyping of chronic rhinosinusitis

  To identify biomarkers allowing for the distinction between different chronic rhinosinusitis patient groups and disease controls (n=20 of each DC, CRSsNP, CRSwNP and N-ERD), we use high-throughput targeted proteomics (Olink Multiplex platform) in nasal secretions and serum samples.

  Study EGAS50000000907

• Whole genome sequencing of preneoplasia lung adenocarcinoma

  Whole genome sequencing of 42 pulmonary samples including lung preneoplasia atypical adenomatous hyperplasia (AAH, N=5), adenocarcinoma in situ (AIS, N=7), minimally invasive adenocarcinoma (MIA, N=6) and invasive lung adenocarcinoma (ADC, N=8) and adjacent lung tissues (Normal, N=16).

  Study EGAS50000000272

• 3D chromatin analysis of clear cell renal cell carcinoma using micro-C

  To investigate the 3D structure of chromatin in ccRCC, we performed micro-C on 3 ccRCC cell lines (786-O, A498, UMRC-2), and 1 normal kidney epithelium cell line (HK-2), cultured under normoxic (20% O2) and hypoxic (0.05% O2) conditions

  Study EGAS50000001323

• Identification of genetic etiology of CAMRQ2

  We aimed to identify genetic etiology of cerebellar ataxia, mental retardation, and disequilibrium syndrome (CAMRQ). Targeted sequencing of the entire CAMRQ2 locus, 7.1 Mb interval on chromosome 17p13, in three affected individuals and two obligate carriers uncovered the mutation associated with CAMRQ2.

  Study EGAS00000000099

• Genomic profiling of Rare Tumors Release 2

  Utilizing the rare and unique patient samples provided by Pattern Medicine, LLC, MD Anderson will molecularly characterize rare cancer samples, and potentially generate a collection of preclinical models to enable identification of novel therapeutic targets and concepts, as well as evaluation of innovative treatment strategies.

  Study EGAS50000000615

• Determinants of DNA methylation patterning in human placental development and trophoblast stem cell models.

  To assess whether the DNA methylation landscape of human trophoblast stem cells resembles an in vivo cell type, we used post-bisulfite adaptor-tag sequencing to measure genome-wide DNA methylation of preimplantation human trophectoderm and sorted first trimester cytotrophoblast.

  Study EGAS50000000661

• A fast, affordable and minimally-invasive diagnostic test for Cancer of Unknown Primary (CUP) using DNA methylation profiling

  CUP diagnosis on FFPE tissue and liquid biopsies (blood, pleural and peritoneal effusions) using cfRRBS (cell-free reduced representation bisulfite sequencing), a technique that allows for identification of the methylation profile starting from minimal amounts of highly fragmented DNA.

  Study EGAS50000000257

• ST dataset of subcortical MS

  Spatial transcriptomics from subcortical white matter controls and MS lesions, specifically chronic active (CA) and chronic inactive (CI), that paired with single-nuclei RNA-sequencing from the same samples , was used to identify spatial niches and key cell interactions driving inflammation and disease progression

  Study EGAS50000000353

• Scywalker: scalable end-to-end data analysis workflow for nanopore single-cell transcriptome sequencing

  Existing nanopore single-cell data analysis tools showed severe limitations in handling current data sizes. We developed novel scalable methods for cell barcode demultiplexing and single-cell isoform calling and quantification and incorporated these in an easily deployable package called scywalker.

  Study EGAS50000000537

• ICARUS-LUNG01-RNAseq

  Bulk RNA-seq was carried out on 20 pairs of frozen tumor biopsies. Differential gene expression (DGE) analyses was conducted, looking at the fold change of gene expression of matched on-T/BL samples in the overall population and, then, separately in responders and non-responders.

  Study EGAS50000000732

• RNA sequencing of untreated and treated KRAS-mutated metastatic colorectal cancer PDX-derived organoids.

  RNA sequencing was performed on patient-derived xenograft (PDX)-derived organoid models of metastatic colorectal cancer (mCRC). The aim of this study was to characterize the transcriptional landscape of KRAS-mutant mCRC cells in response to therapeutic strategies targeting the EGFR and KRAS signaling pathways. Transcriptomic profiling was conducted following drug treatments to investigate molecular changes associated with single and combination therapies. A total of 24 samples were analyzed.

  Dataset EGAD50000002443

• Dataset contains all Single cell RNAseq data of human neurons from the study Bouwen et al Nat Comm 2025

  These documents contain the patch seq data presented in the Bouwen et al Nat Comm 2025. Human brain samples were gathered during surgery, neurons were isolated using patch clamp glass pipette. Isolated cells were processed using Smartseq2 pipeline, and sequenced using an Illumina 2500. Files are formatted in fastq format. There are a total of 12 patient samples, each with 2 replication runs.

  Dataset EGAD50000001979

• Monosomy 7 delineates a primitive acute myeloid leukemia with adverse prognosis and responsiveness to epigenetic therapy

  The dataset comprises 27 single-cell multiome (ATAC + GEX) datasets generated from 13 patients with AML, collected across different stages of disease progression. In addition, matched long-read sequencing data from 5 samples were used to enable longitudinal analyses throughout the manuscript. Finally, bulk RNA-seq and ATAC-seq datasets from the cell line used in this study are also included.

  Dataset EGAD50000002359

• Somatic copy number alterations profiling in non-small cell lung cancer and their correlation with clinical efficacy in first-line treatment

  Genomic data from FFPE tumor samples of 258 patients with non-small cell lung cancer (NSCLC), profiled by shallow whole-genome sequencing (sWGS) at 1x. The study aimed to characterize somatic copy number alterations (SCNAs) and SCNA burden to assess their clinical relevance for patient stratification across different first-line treatments.

  Dataset EGAD50000002322

• Human omentum cell atlas

  This dataset contains single-cell RNA sequencing data derived from freshly dissociated human omental tissue. The study investigates the transcriptomic landscape of the omentum by comparing samples from patients with benign conditions against those with ovarian cancer metastasis. To capture the heterogeneity of the metastatic niche, sampling was performed across distinct anatomical sites, including non-metastasized tissue, distant omental regions, peritumoral zones, and the tumor core. This comprehensive profiling aims to define the cellular remodeling associated with malignant transformation

  Dataset EGAD50000002110

• WGS Data from 42 Multi-Region Sampled IPMN-PDACs and 12 Matched Normal Samples

  This dataset contains whole genome sequencing (WGS) data from 42 IPMN-PDAC and 12 normal samples, with tumours collected from multiple regions within each tumour to capture intra-tumour heterogeneity. Tumour and matched normal samples were sequenced to study somatic mutations, structural variants, copy number alterations, mutational signatures and clonal evolution during IPMN-PDAC progression. The sequencing was performed using Illumina NovaSeq instrument with 150 bp paired-end reads.

  Dataset EGAD50000001687

• Dataset of Study assessing the efficacy and safety of durvalumab plus olaparib plus fulvestrant in selected metastatic or locally advanced ER-positive, HER2-negative breast cancer patients.

  This dataset is made of 166 samples extracted from 1) FFPE blocks of the most recent biopsy (metastasis when applicable or primary tumor) of the breast tumor 2) Plasma samples and blood samples at baseline, at Day 1 Cycle2, Day 1 Cycle 3 and at progression or treatment discontinuation. Target sequencing has been perfomed using GREAT_A_v3 panel

  Dataset EGAD50000001665

• ctDNA raw data (BAMs)

  Raw data of ctDNA profiling using the PredicineWES+ or PredicineBEACON assay in patients enrolled in divarasib phase I GO42144 study.

  Dataset EGAD50000000530

• Spatial Profiling Reveals Resistance in HER2+ Gastric Cancer

  HER2-positive gastric cancer (HER2+ GC) exhibits significant intra-tumoral heterogeneity and frequent development of resistance to HER2-targeted therapies. This study aimed to characterize the spatial tumor microenvironment (TME) and identify mechanisms of resistance to HER2 blockade including trastuzumab and trastuzumab deruxtecan (T-DXd) in HER2+ GC, with the goal of informing novel therapeutic strategies. We performed spatial transcriptomics on pre- and post-treatment samples from patients with HER2+ metastatic GC who received trastuzumab-based therapy.

  Dataset EGAD50000000898

• Sex Differences in MAGEL2 Gene Promoter Methylation in High Functioning Autism - Trends from a Pilot Study Using Nanopore Cas9 Targeted Long Read Sequencing

  Using DNA extracted from peripheral blood, Cas9-targeted nanopore DNA sequencing was used to analyze MAGEL2 gene, including its entire regulatory construct (chr15:23639316-23651466), for sequence variation and 5-methyl-cytosine (5mC) modification in a cohort of adults with HFA compared to sex- and age-matched NC.

  Dataset EGAD50000000726

• Detection of a recently described pre-T cell receptor-alpha immunodeficiency exclusively using whole genome sequencing

  In this study, we describe the role of whole genome sequencing (WGS) in providing a definitive diagnosis for a child with T cell deficiency, where targeted panel sequencing of SCID genes and whole exome sequencing had failed. A novel homozygous 8kb deletion in PTCRA, encoding pTCR, was identified. WGS sequence data from the proband, proband’s mother, and proband’s father are deposited.

  Dataset EGAD50000000866

• WHOLE GENOME SEQUENCING FOR THE CHARACTERIZATION OF CLEAR CELL RENAL CELL CARCINOMA IN VHL PATIENT

  To characterize clear cell Renal Cell Carcinoma (ccRCC), we set up a comprehensive multi-omics pilot study on a VHL-ccRCC-patient. Whole Genome Sequencing (WGS) was applied on six ccRCCs, four cysts and one blood DNA sample as germinal control. Raw-data were analyzed with GENomics-DRAGEN platform. We will upload WGS-Data for 11 samples (6 ccRCCs, 4 Cysts, 1 blood).

  Dataset EGAD50000000425

• Variant calling from CC220-MM-001 cohorts A,B,D

  These are genomic and transcriptomic high risk molecular segments for 167 samples collected at baseline from deidentified patients enrolled in cohorts A,B or D in the CC-220-MM-001 clinical study. Data are provided in a patient call table in csv format. Calls are generated from WGS data with mutations called by mutect2 best practices pipeline, CNV calls from Battenberg; and RNA-seq aligned with star aligner and quantified by Salmon.

  Dataset EGAD50000000388