DKFZ-Epigenomics
Ontology highlight
ABSTRACT:
PROVIDER: EGAO00000000385 | EGA |
REPOSITORIES: EGA
Publications
Integrated clinical, whole-genome, and transcriptome analysis of multisampled lethal metastatic prostate cancer.
Bova G Steven GS Kallio Heini M L HM Annala Matti M Kivinummi Kati K Högnäs Gunilla G Häyrynen Sergei S Rantapero Tommi T Kivinen Virpi V Isaacs William B WB Tolonen Teemu T Nykter Matti M Visakorpi Tapio T
Cold Spring Harbor molecular case studies 20160501 3
We report the first combined analysis of whole-genome sequence, detailed clinical history, and transcriptome sequence of multiple prostate cancer metastases in a single patient (A21). Whole-genome and transcriptome sequence was obtained from nine anatomically separate metastases, and targeted DNA sequencing was performed in cancerous and noncancerous foci within the primary tumor specimen removed 5 yr before death. Transcriptome analysis revealed increased expression of androgen receptor (AR)-re ...[more]
Similar Datasets
Project description:Organisation EGAO00000001381
| EGAO00000001381 | EGA
Project description:Purpose of reviewEpigenetic modifications are reversible changes to a cell's DNA or histones that alter gene expression but not DNA sequence. The present review will explore epigenomic profiling and bioinformatics techniques for the study of kidney development and disease.Recent findingsReversible DNA and histone modifications influence chromatin accessibility and can be measured by a variety of recent techniques including DNase-seq, ATAC-seq, and single cell ATAC-seq. These approaches have been used to demonstrate that DNA methylation is critical for nephron progenitor maturation, for example. New bioinformatics techniques allow the prediction of chromatin loops that connect regulatory elements to target genes. Recent studies have demonstrated that DNA elements regulate transcription in the kidney via long-range physical interactions and create a new framework for understanding how genome wide association studies risk loci contribute to kidney disease. Increasingly, epigenomic approaches are being combined with transcriptomic analyses to generate multimodal datasets.SummaryEpigenomics has expanded our knowledge of gene architecture and regulation. Novel tools and techniques have led to the emergence of 'multiomics' in which epigenomic profiling, transcriptomics, and additional methods complement each other to improve our understanding of kidney disease and development.
| S-EPMC7730478 | biostudies-literature
Project description:Alzheimer's disease (AD) is a large and growing public health problem. It is characterized by the accumulation of amyloid β peptides and abnormally phosphorylated tau proteins that are associated with cognitive decline and dementia. Much has been learned about the genomics of AD from linkage analyses and, more recently, genome-wide association studies. Several but not all aspects of the genomic landscape are involved in amyloid β metabolism. The moderate concordance of disease among twins suggests other factors, potentially epigenomic factors, are related to AD. We are at the earliest stages of examining the relation of the epigenome to the clinical and pathologic phenotypes that characterize AD. Our literature review suggests that there is some evidence of age-related changes in human brain methylation. Unfortunately, studies of AD have been relatively small with limited coverage of methylation sites and microRNA, let alone other epigenomic marks. We are in the midst of 2 large studies of human brains including coverage of more than 420,000 autosomal cytosine-guanine dinucleotides with the Illumina Infinium HumanMethylation450 BeadArray, and histone acetylation with chromatin immunoprecipitation sequencing. We present descriptive data to help inform other researchers what to expect from these approaches to better design and power their studies. We then discuss future directions to inform on the epigenomic architecture of AD.
| S-EPMC4233194 | biostudies-literature
Project description:Epigenetic regulation is critical to physiological control of development, cell fate, cell proliferation, genomic integrity and, fundamentally, transcriptional regulation. This epigenetic control occurs at multiple levels including through DNA methylation, histone modification, nucleosome remodelling and modulation of the 3D chromatin structure. Alterations in genes that encode chromatin regulators are common among mesenchymal neoplasms, a collection of more than 160 tumour types including over 60 malignant variants (sarcomas) that have unique and varied genetic, biological and clinical characteristics. Herein, we review those sarcomas in which chromatin pathway alterations drive disease biology. Specifically, we emphasize examples of dysregulation of each level of epigenetic control though mechanisms that include alterations in metabolic enzymes that regulate DNA methylation and histone post-translational modifications, mutations in histone genes, subunit loss or fusions in chromatin remodelling and modifying complexes, and disruption of higher-order chromatin structure. Epigenetic mechanisms of tumorigenesis have been implicated in mesenchymal tumours ranging from chondroblastoma and giant cell tumour of bone to chondrosarcoma, malignant peripheral nerve sheath tumour, synovial sarcoma, epithelioid sarcoma and Ewing sarcoma - all diseases that present in a younger patient population than most cancers. Finally, we review current and potential future approaches for the development of sarcoma therapies based on this emerging understanding of chromatin dysregulation.
| S-EPMC8380451 | biostudies-literature
Project description:Recently, with the development of next generation sequencing (NGS), the combination of chromatin immunoprecipitation (ChIP) and NGS, namely ChIP-seq, has become a powerful technique to capture potential genomic binding sites of regulatory factors, histone modifications and chromatin accessible regions. For most researchers, additional information including genomic variations on the TF binding site, allele frequency of variation between different populations, variation associated disease, and other neighbour TF binding sites are essential to generate a proper hypothesis or a meaningful conclusion. Many ChIP-seq datasets had been deposited on the public domain to help researchers make new discoveries. However, researches are often intimidated by the complexity of data structure and largeness of data volume. Such information would be more useful if they could be combined or downloaded with ChIP-seq data. To meet such demands, we built a webtool: ePIgenomic ANNOtation tool (ePIANNO, http://epianno.stat.sinica.edu.tw/index.html). ePIANNO is a web server that combines SNP information of populations (1000 Genomes Project) and gene-disease association information of GWAS (NHGRI) with ChIP-seq (hmChIP, ENCODE, and ROADMAP epigenomics) data. ePIANNO has a user-friendly website interface allowing researchers to explore, navigate, and extract data quickly. We use two examples to demonstrate how users could use functions of ePIANNO webserver to explore useful information about TF related genomic variants. Users could use our query functions to search target regions, transcription factors, or annotations. ePIANNO may help users to generate hypothesis or explore potential biological functions for their studies.
| S-EPMC4747527 | biostudies-literature
Project description:Organisation EGAO00000001147
| EGAO00000001147 | EGA