22992 results for "ega"

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• Ion Proton WES raw and processed data from and novel immunodeficiency proband.

  BAM and VCF files from WES of an affected proband with a novel immunodeficiency phenotype caused by homozygous mutation of SLC19A1.

  Dataset EGAD50000000524

• Tumor microenvironment-induced FOXM1 regulates ovarian cancer stemness

  RNAseq from patient-derived primary tumor cells, cultured or not on organotypic cultures mimicking the tumor microenvironment

  Study EGAS50000000355

• Methylation array data of thymic epithelial tumors (TC, NET, THYM)

  Methylation microarray data (Illumina 850K) of 52 thymic epithelial tumors. 13 patients with thymoma A and B, 32 thymic carcinoma (TC) and 7 neuroendocrine tumors of the thymus (NET).

  Dataset EGAD00010002355

• L1-Architect Project DAC

  This Data Access Committee and policies are for controlling the correct use of the omics datasets generated within the L1-Architect Project, to investigate the impact of L1 transposable elements in tumours with high and ultrahigh rates of somatic retrotransposition

  Dac EGAC50000000289

• Whole-exome sequencing of acute myeloid leukemias with aberrations of chromosome 7

  This dataset contains the bam files of 60 paired samples of AML and remission samples.

  Dataset EGAD50000000621

• 16SV4-sequence data

  Raw 16SV4-sequence data from bronchial brushing DNA obtained from healthy volunteers prior to and four weeks after ICS treatment.

  Dataset EGAD50000000527

• Usher patients and USH2A-associated RP patients

  This is a Next Generation Sequencing approach based on whole Usher Syndrome genes sequencing with the aim of diagnosing USH patients and USH2A-associated RP patients

  Dataset EGAD50000000687

• Structural variants

  Structural variants assessed in 6 patient samples with varying phenotypes, through the use of sniffles2 with a support parameter of 1 and at a length of 30 bp

  Dataset EGAD50000000741

• SCLC MeDIP-seq

  Methylation profile of 33 patients with small cell lung cancer (SCLC) for both, tumour and normal lung samples using MeDIP-seq.

  Dataset EGAD50000000724

• 10X single-nuclei RNA sequencing

  Single-nuclei sequencing data from four neuroblastoma patients. Each patient was run on two lanes, resulting in two runs per patient. Data is provided in paired-end fastq files.

  Dataset EGAD50000000727

• Contribution of specific cell types to the development of Barrett’s esophagus and carcinoma via germline genetic risk

  We sought to elucidate how individual cell types in Barrett’s esophagus (BE) and esophageal adenocarcinoma (EAC) contribute to disease development via germline genetic risk.

  Dac EGAC50000000235

• ExerFiber (Single muscle fiber exercise responses)

  Individual fibers of human skeletal muscle biopsies - collected immediately post-exercise and after 3h of recovery. m. vastus lateralis

  Study EGAS50000000419

• Detection of MEIS2 inversion using ONT adaptive sequencing

  DNA was extracted from whole blood, and sequenced on a Promethion flow cell. The target region covered chr15:22874354-55370932 (Grch38). The resulting data was aligned to Grch38 using minimap2.

  Dataset EGAD50000000893

• WTCCC case-control study for Ankylosing Spondylitis - Combined Controls

  WTCCC genome-wide case-control association study for Ankylosing Spondylitis (AS) - Combined Controls.

  Study EGAS00000000019

• Clinical data and mapping file

  Patient demographic characteristics, treatment, and survival data for IMbrave151 (N = 162), with one patient per line. Mapping file to map anonymized subject IDs to RNAseq IDs

  Dataset EGAD50000000569

• WGS FASTQ files studied in A first-in-human clinical study of an allogenic iPSC-derived corneal endothelial cell substitute transplantation for bullous keratopathy

  This data set contains 2 paired fastq files (WGS).

  Dataset EGAD50000000947

• UMI-4C in LCLs derived from constitutional MLH1 epimutation carriers and non-carrier relatives

  UMI-4C sequencing data generated for MLH1 promoter to assess allele-specific interactions in LCLs derived from constitutional MLH1 epimutation carriers and non-carrier relatives

  Dataset EGAD50000000713

• COVID-19 progression and convalescence in common variable immunodeficiency patients

  Longitudinal analysis of single-cell RNAseq datasets of PBMCs from COVID-19 CVID patients and controls.

  Study EGAS50000000368

• NanoRCS and Reference samples

  Genome-wide NanoRCS of cell-free DNA from plasma of healthy controls (4 samples) Genome-wide sequencing of reference blood sample of healthy controls (4 samples)

  Dataset EGAD50000000974

• RNAseq TPM

  RNAseq TPM matrix (transcriptome profiling by high-thoughput sequencing) Matrix (30,727 features by 2,803 samples) of log2-transformed TPM counts from RNAseq data for the four IMvigor trials.

  Dataset EGAD50000001100

• WGBS dataset for lymphnode metastasis samples from prostate cancer

  This dataset contains WGBS sequencing data of lymphnode metastasis samples from prostate cancer. Sequencing was performed on Illumina HiSeq X Ten. The sequencing was always paired.

  Dataset EGAD50000001183

• small RNA sequencing for 6 patients

  small RNA sequencing data for 3 patients with type 2D diabetes, and 3 patients with non diabetes. Single end sequencing was performed with read length of 100.

  Dataset EGAD50000001259

• McQuillin_Global_WES_Schizophrenia

  Whole Exome Sequencing of Schizophrenia cases and matched controls performed at the Broad Institute on a cohort from UCL, London, UK

  Study EGAS50000000901

• Guardant ctDNA

  This data table represents each patient molecular response based on ctDNA (using Guardant 360) percentage at baseline and cycle 3 day 1

  Dataset EGAD50000001339