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Items: 1 to 20 of 1088

1.

Deconvoluted methylation profiles discriminate between closely related melanocytic nevi

(Submitter supplied) Congenital melanocytic nevi (CMN) and common acquired melanocytic nevi (AMN) are skin conditions that result from an excess of melanocytes arising during fetal development or detected postnatally. Appropriately weighted whole-genome methylation analysis can be used as a basis for further research in dermatopathology and, in this application, provides new insights into nevus biology.
Organism:
Homo sapiens
Type:
Methylation profiling by genome tiling array
Platform:
GPL21145
7 Samples
Download data: IDAT, TXT
Series
Accession:
GSE268769
ID:
200268769
2.

Spindle cell lesions with oncogenic EGFR kinase domain aberrations: expanding the spectrum of protein kinase-related mesenchymal tumors

(Submitter supplied) EGFR aberrations are reported in a subset of myofibroblastic lesions with kinase domain duplication (EGFR-KDD) and exon 20 mutations being assigned to infantile fibrosarcomas (IFS), mesoblastic nephroma and fibrous hamartoma of infancy (FHI), respectively. In this retrospective study, we correlated molecular findings with histomorphology of 14 myofibroblastic lesions harboring such genetic changes identified by NGS. more...
Organism:
Homo sapiens
Type:
Methylation profiling by array
Platform:
GPL21145
14 Samples
Download data: IDAT
Series
Accession:
GSE261945
ID:
200261945
3.

Diagnostic Utility of DNA Methylation Analysis in Genetically Unsolved Pediatric Epilepsies and CHD2 Episignature Refinement

(Submitter supplied) Sequence-based genetic testing identifies causative variants in ~50% of individuals with developmental and epileptic encephalopathies (DEEs). Aberrant changes in DNA methylation are implicated in various neurodevelopmental disorders but remain unstudied in DEEs. We interrogate the diagnostic utility of genome-wide DNA methylation array analysis on peripheral blood samples from 582 individuals with genetically unsolved DEEs. more...
Organism:
Homo sapiens
Type:
Methylation profiling by array
Platform:
GPL21145
290 Samples
Download data: IDAT, TXT
Series
Accession:
GSE269416
ID:
200269416
4.

Capmatinib shows superior efficacy for MET-fusion driven pediatric high-grade glioma and synergizes with radiotherapy.

(Submitter supplied) This SuperSeries is composed of the SubSeries listed below.
Organism:
Mus musculus; Homo sapiens
Type:
Expression profiling by high throughput sequencing; Methylation profiling by genome tiling array
Platforms:
GPL32685 GPL24247 GPL21145
48 Samples
Download data: IDAT
Series
Accession:
GSE252459
ID:
200252459
5.

Capmatinib shows superior efficacy for MET-fusion driven pediatric high-grade glioma and synergizes with radiotherapy [human methylation array]

(Submitter supplied) Background: Pediatric high-grade glioma (pHGG) is the most frequent malignant brain tumor in children and can be subclassified into multiple entities. Fusion genes activating the MET receptor tyrosine kinase often occur in infant-type hemispheric glioma (IHG) but also in other pHGGs, and are associated with devastating morbidity and mortality. Methods: To identify new treatment options, we established and characterized two novel orthotopic mouse models harboring distinct MET fusions. more...
Organism:
Homo sapiens
Type:
Methylation profiling by genome tiling array
Platform:
GPL21145
9 Samples
Download data: IDAT
Series
Accession:
GSE252458
ID:
200252458
6.

Understanding the biological processes of clear cell renal carcinoma carcinogenesis: an integrative multi-omics approach.

(Submitter supplied) Multi-Omics analysis to gain novel insights into clear cell renal carcinoma aetiology and progression. The DNA methylation data of 121 clear clear renal carcinoma (ccRCC) were integrated with WGS and transcriptomic data using Multi-Omics Factor Analysis (MOFA) to detect the inter-patient variations related to aetiological and disease progression related factors.
Organism:
Homo sapiens
Type:
Methylation profiling by genome tiling array
Platform:
GPL21145
121 Samples
Download data: IDAT, TSV
Series
Accession:
GSE269180
ID:
200269180
7.

MYCN-driven de-differentiation profile identifies a subgroup of aggressive retinoblastoma

(Submitter supplied) Retinoblastoma are childhood eye tumors arising from retinal precursor cells. Two distinct retinoblastoma subtypes with different clinical behavior have been described based on gene expression and methylation profiling. Using consensus clustering of DNA methylation analysis from retinoblastomas, we identified a MYCN-driven cluster of subtype 2 retinoblastomas characterized by DNA hypomethylation and high expression of genes involved in protein synthesis. more...
Organism:
Homo sapiens
Type:
Methylation profiling by genome tiling array
Platforms:
GPL13534 GPL21145
70 Samples
Download data: IDAT, TXT
Series
Accession:
GSE267015
ID:
200267015
8.

Generation of a novel iPSC-based model to explore the molecular and functional phenotype of a rare genetic immunodeficiency, the ICF syndrome type 2.

(Submitter supplied) ICF syndrome (Immunodeficiency, Centromeric instability and Facial anomalies) is a rare genetic disorder characterized by severe immunodeficiency that leads to lethal infections in early childhood. In addition, more than half of affected individuals show mild to severe intellectual disability at very early onset. Two genes explain the majority of the ICF cases, DNMT3B and ZBTB24, defining ICF1 and ICF2 subtypes. more...
Organism:
Homo sapiens
Type:
Methylation profiling by genome tiling array
Platform:
GPL21145
5 Samples
Download data: IDAT, TXT
Series
Accession:
GSE262957
ID:
200262957
9.

Transcriptome-wide gene expression outlier analysis pinpoints therapeutic vulnerabilities in colorectal cancer

(Submitter supplied) Multiple strategies are continuously being explored to expand the drug target repertoire in solid tumors. We devised a novel computational workflow for transcriptome-wide gene expression outlier analysis that allows the systematic identification of both overexpression and underexpression events in cancer cells. Here, it was applied to expression values obtained through RNA sequencing in 226 colorectal cancer (CRC) cell lines that were also characterized by whole-exome sequencing and microarray-based DNA methylation profiling. more...
Organism:
Homo sapiens
Type:
Methylation profiling by array
Platform:
GPL21145
88 Samples
Download data: IDAT
Series
Accession:
GSE220197
ID:
200220197
10.

Genome-wide DNA methylation analysis of high-grade serous ovarian cancer_after chemotherapy

(Submitter supplied) DNA methylation in high-grade serous ovarian cancer_after chemotherapy
Organism:
Homo sapiens
Type:
Methylation profiling by genome tiling array
Platform:
GPL21145
30 Samples
Download data
Series
Accession:
GSE195478
ID:
200195478
11.

Human skeletal muscle possesses an epigenetic memory of high intensity interval training

(Submitter supplied) Twenty healthy subjects (25±5yrs) completed two high-intensity interval training interventions (training and retraining) lasting 8 weeks separated by 12 weeks of detraining. Measurements at baseline and after training, detraining and retraining included maximal oxygen consumption (V̇O2max), along with vastus lateralis biopsy for genome wide DNA methylation using Illumina Epic arrays in 5 of the participants for all conditions (baseline, training, detraining and retraining).
Organism:
Homo sapiens
Type:
Methylation profiling by array
Platform:
GPL21145
20 Samples
Download data: IDAT, TXT
Series
Accession:
GSE268211
ID:
200268211
12.

Longitudinal DNA methylation in serially passaged BJ Fibroblasts to investigate the latent aging of cells

(Submitter supplied) As epigenetic clocks have evolved from powerful estimators of chronological aging to predictors of mortality and disease risk, it begs the question of what role DNA methylation plays in the aging process. We hypothesize that while it has the potential to serve as an informative biomarker, DNA methylation could also be a key to understanding the  biology entangled between aging, (de)differentiation, and epigenetic reprogramming. more...
Organism:
Homo sapiens
Type:
Methylation profiling by genome tiling array
Platform:
GPL21145
66 Samples
Download data: CSV, IDAT
Series
Accession:
GSE268145
ID:
200268145
13.

Genome-wide DNA methylation analysis of driver gene-negative and EGFR-mutation lung adenocarcinoma and ajacent normal tissue

(Submitter supplied) Genome-wide DNA methylation profiling of normal and lung adenocarcinoma fresh tissue samples. The Illumina Infinium MethylationEPIC BeadChip (850K) was used to obtain DNA methylation profiles across 860,000 CpGs in fresh tissue of lung adenocarcinoma and adjacent histological normal lung tissue samples. Samples included 30 paired tumor-normal driver gene-negative lung adenocarcinoma tissues and 35 paired tumor-normal EGFR-mutation positive lung adenocarcinoma tissues.
Organism:
Homo sapiens
Type:
Methylation profiling by genome tiling array
Platform:
GPL21145
130 Samples
Download data: IDAT, TXT
Series
Accession:
GSE235414
ID:
200235414
14.

DNA methylation across the genome in aged human skeletal muscle tissue and muscle-derived cells

(Submitter supplied) Skeletal muscle tissue demonstrates global hypermethylation with aging. However, methylome changes across the time-course of differentiation in aged human muscle derived cells, and larger coverage arrays in aged muscle tissue have not been undertaken. Using 850K DNA methylation arrays we compared the methylomes of young (27 ± 4.4 years) and aged (83 ± 4 years) human skeletal muscle and that of young/aged heterogenous muscle-derived human primary cells (HDMCs) over several time points of differentiation (0, 72 hours, 7, 10 days). more...
Organism:
Homo sapiens
Type:
Methylation profiling by array
Platform:
GPL21145
42 Samples
Download data: IDAT, TXT
Series
Accession:
GSE268218
ID:
200268218
15.

A novel type of spinal ependymoma with anaplastic features

(Submitter supplied) Ependymoma (EPN) is a type of brain tumour.. Here we present a novel subtype of spinal ependymoma, that shows an anaplastic morphology, OLIG2 and MYCN positvity in immunostaining and a distinct epigenetic and proteomic profile.
Organism:
Homo sapiens
Type:
Methylation profiling by array
Platform:
GPL21145
4 Samples
Download data: IDAT, TXT
Series
Accession:
GSE264714
ID:
200264714
16.

Genomic and phenotypic stability of fusion-driven pediatric sarcoma cell lines [array]

(Submitter supplied) Human cancer cell lines are the mainstay of cancer research. Recent reports showed that highly mutated adult carcinoma cell lines (mainly HeLa and MCF-7) present striking diversity across laboratories and that long-term continuous culturing results in genomic/transcriptomic heterogeneity with strong phenotypical implications. However, to what extent these limitations in terms of reproducibility may be generalized to all cancer cell lines remained unexplored. more...
Organism:
Homo sapiens
Type:
Methylation profiling by array
Platform:
GPL21145
62 Samples
Download data: IDAT, XLSX
Series
Accession:
GSE264509
ID:
200264509
17.

MIR4435-2HG as a novel predictive biomarker of chemotherapy response and death in pediatric B-cell ALL

(Submitter supplied) This SuperSeries is composed of the SubSeries listed below.
Organism:
Homo sapiens
Type:
Expression profiling by high throughput sequencing; Methylation profiling by genome tiling array
Platforms:
GPL21145 GPL30173
52 Samples
Download data: IDAT
Series
Accession:
GSE229056
ID:
200229056
18.

MIR4435-2HG as a novel predictive biomarker of chemotherapy response and death in pediatric B-cell ALL [methylation]

(Submitter supplied) B-cell acute lymphoid leukemias (B-ALL) are the most common neoplastic diseases in children. Survival rates in Hispanics are lower than in non-Hispanic children. It is, therefore, necessary to find predictive and prognostic biomarkers of relapse and death in this population. Our aim was to identify biomarkers of treatment response, which may also predict relapse and death, through identifying differentially expressed and methylated genes between patients who responded or did not respond to induction treatment. more...
Organism:
Homo sapiens
Type:
Methylation profiling by genome tiling array
Platform:
GPL21145
26 Samples
Download data: IDAT, TXT
Series
Accession:
GSE229052
ID:
200229052
19.

Machine learning unveils an immune-related DNA methylation profile in germline DNA from breast cancer patients

(Submitter supplied) To identify a set of methylation biomarkers capable of reliably distinguishing breast cancer patients from healthy controls, we performed DNA methylation profiling on germline DNA from peripheral blood samples for a predominantly Asian population comprising 256 ethnic Chinese breast cancer patients recruited from genetic testing clinics and 268 age- and ethnicity-matched non-cancer controls.
Organism:
Homo sapiens
Type:
Methylation profiling by genome tiling array
Platform:
GPL21145
524 Samples
Download data: IDAT, TSV
Series
Accession:
GSE243529
ID:
200243529
20.

H1FOO-DD promotes efficiency and uniformity in reprogramming to naive pluripotency

(Submitter supplied) This SuperSeries is composed of the SubSeries listed below.
Organism:
Homo sapiens
Type:
Expression profiling by high throughput sequencing; Genome binding/occupancy profiling by high throughput sequencing; Methylation profiling by high throughput sequencing
6 related Platforms
168 Samples
Download data: BED, IDAT, MTX, TSV, TXT
Series
Accession:
GSE224850
ID:
200224850
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