Ontology highlight
ABSTRACT:
PROVIDER: PRJNA923508 | ENA |
REPOSITORIES: ENA
Similar Datasets
Project description:Structural variations (SVs) contribute significantly to the variability of the human genome and extensive genomic rearrangements are a hallmark of cancer. Genomic DNA paired-end-tag (DNA-PET) sequencing is an attractive approach to identify genomic SVs. The current application of PET sequencing with short insert size DNA is insufficient for the comprehensive mapping of SVs in low complexity and repeat-rich genomic regions. We have developed a robust procedure to generate PET sequencing data using large DNA inserts of 10 - 20 kb for the identification of SVs. We compared the characteristics of the large insert libraries with short insert (1 kb) libraries with the same sequencing depths and costs. Although short insert libraries bear an advantage in identifying small deletions, they do not provide a significantly better breakpoint resolution. Large inserts are superior to short inserts in providing higher physical genome coverage and therefore achieve greater sensitivity for the identification of the different types of SVs, including copy number neutral and complex events. Further, large inserts allow the identification of SVs within repetitive sequences which cannot be spanned by short inserts. Structural variations of three cancer cell lines using short (1 kb) and long (10 kb and 20 kb) insert size DNA fragments
2012-10-04 | E-GEOD-32674 | biostudies-arrayexpress
Project description:Cis-regulatory elements (CREs) fine-tune gene transcription during normal growth and development and environmental stress responses in eukaryotes. CREs with sequence variations play vital roles in driving plant or crop domestication. However, how global genomic sequence and structural variations causative for multi-level changes between Indica and Japonica are still less studied. To answer this question, we here conducted MH-seq (MNase hypersensitive sequencing) for global profiling of open chromatin (MNase hypersensitive sites, MHSs) between two typical Oryza sativa cultivars, Nipponbare (NIP) and 93-11. We found that differential MHSs exhibited some distinct intrinsic genomic sequence features between NIP and 93-11. Moreover, MHSs can coordinate with DNA sequence or genomic structural variations in the regulation of differential gene expression between NIP and 93-11. Importantly, by applying MHS-GWAS association analyses, we found that CREs with sequence variations may act as the key determinant for controlling expression of genes responsible for some biological relevance in NIP and 93-11. Therefore, this study provides new insights into how sequence and genomic structural variations function in differential biological relevance and key crop agronomic traits between Indica and Japonica. It also provides some promising genomic editing targets for molecular breeding to improve favorable agronomic trait.
2023-09-02 | GSE196604 | GEO
Project description:The mammalian immune system implements a remarkably effective set of mechanisms for fighting pathogens. Its main actors are hematopoietic immune cells, including myeloid cells with their focus on innate immunity and lymphoid cells as enablers of adaptive immunity. Nevertheless, immune functions are not unique to hematopoietic cells, and basic mechanisms of pathogen defense are present in many other cell types. To advance our understanding of immunology outside of the hematopoietic system, we systematically investigated immune gene regulation in the three major types of structural cells: Epithelium, endothelium, and fibroblasts. We characterized these cell types across 12 organs in mice, using cellular phenotyping, transcriptome sequencing, chromatin accessibility profiling, and epigenome mapping. This comprehensive dataset uncovered a striking complexity of immune gene activity and regulation in structural cells. The observed patterns were highly organ-specific and appear to modulate interactions between structural cells and hematopoietic immune cells. Moreover, we identified an epigenetically encoded immune potential in structural cells under tissue homeostasis, which was triggered in response to systemic viral infection. This study highlights an underappreciated complexity of organ-specific immune gene regulation beyond hematopoietic cells, and it provides a high-resolution, multi-omics atlas of the epigenomic and transcription-regulatory circuitry of structural cells in the mouse.
2020-06-30 | GSE134658 | GEO
Project description:The mammalian immune system implements a remarkably effective set of mechanisms for fighting pathogens. Its main actors are hematopoietic immune cells, including myeloid cells with their focus on innate immunity and lymphoid cells as enablers of adaptive immunity. Nevertheless, immune functions are not unique to hematopoietic cells, and basic mechanisms of pathogen defense are present in many other cell types. To advance our understanding of immunology outside of the hematopoietic system, we systematically investigated immune gene regulation in the three major types of structural cells: Epithelium, endothelium, and fibroblasts. We characterized these cell types across 12 organs in mice, using cellular phenotyping, transcriptome sequencing, chromatin accessibility profiling, and epigenome mapping. This comprehensive dataset uncovered a striking complexity of immune gene activity and regulation in structural cells. The observed patterns were highly organ-specific and appear to modulate interactions between structural cells and hematopoietic immune cells. Moreover, we identified an epigenetically encoded immune potential in structural cells under tissue homeostasis, which was triggered in response to systemic viral infection. This study highlights an underappreciated complexity of organ-specific immune gene regulation beyond hematopoietic cells, and it provides a high-resolution, multi-omics atlas of the epigenomic and transcription-regulatory circuitry of structural cells in the mouse.
2020-06-30 | GSE134648 | GEO
Project description:Structural variations (SVs) contribute significantly to the variability of the human genome and extensive genomic rearrangements are a hallmark of cancer. Genomic DNA paired-end-tag (DNA-PET) sequencing is an attractive approach to identify genomic SVs. The current application of PET sequencing with short insert size DNA is insufficient for the comprehensive mapping of SVs in low complexity and repeat-rich genomic regions. We have developed a robust procedure to generate PET sequencing data using large DNA inserts of 10 - 20 kb for the identification of SVs. We compared the characteristics of the large insert libraries with short insert (1 kb) libraries with the same sequencing depths and costs. Although short insert libraries bear an advantage in identifying small deletions, they do not provide a significantly better breakpoint resolution. Large inserts are superior to short inserts in providing higher physical genome coverage and therefore achieve greater sensitivity for the identification of the different types of SVs, including copy number neutral and complex events. Further, large inserts allow the identification of SVs within repetitive sequences which cannot be spanned by short inserts.
2012-10-04 | GSE32674 | GEO
Project description:We identified genomic structural alterations of six patients with signs of neurodevelopmental disorder (NDDs) that harbour chromosomal rearrangements using large-insert paired-end tag sequencing (DNA-PET). This technique allowed the refinement of chromosomal breakpoints and lead to the identification of seven disrupted genes (GNAQ, RBFOX3, UNC5D, TMEM47, NCAPG2, GTDC1 and XIAP). For one patient we filtered the entire panel of structural variations (SVs) with his parents and identified a unique SV that disrupted a single gene: GTDC1. We then validated the functional consequences of the chromosomal breakpoint disruption of GTDC1 by using patient-derived iPSCs. By differentiating these cells into neural progenitor cells (NPCs) and neurons, we interrogated the disease process at the cellular level and observed defects in the proliferation and glycosylation status of NPCs and also defects in neuronal maturation and function. We compared these results with GTDC1-deficient wild-type human NPCs and neurons, and observed similar phenotypic features as in the patient-derived cells which confirm that GTDC1 is involved in the patient’s phenotype. We show here that the combination of genomic screening with iPSCs technology provides a mechanistic insight into possible contributory effects of candidate genes implicated in NDDs and for personalized medicine. Structural variations were identified by long insert DNA paired-end tag (DNA-PET) sequencing, a mate-pair sequencing approach.
2014-09-03 | E-GEOD-51430 | biostudies-arrayexpress
Project description:Solid tumors were histopathologically categorized into carcinomas and sarcomas and analyzed based on structural variations specific to each group. To investigate this, we utilized whole genome sequencing (WGS) data from dogs with solid tumors, including carcinomas and sarcomas. Structural variations, which induce extensive base changes, significantly impact tumor development. Through our analysis, we identified 146,847 structural variations within the solid tumor data. By comparing each solid tumor group, we identified both common genes affecting tumors across groups and differential genes unique to carcinomas and sarcomas. This finding suggests that understanding the specific genetic alterations associated with each tumor type can enhance the accuracy of diagnosis, inform treatment strategies, and improve prognostic assessments.
2025-12-01 | E-MTAB-14410 | biostudies-arrayexpress
Project description:Assessing the influence of RNA structural and sequence variations on SNRPA1-mediated regulation of alternative splicing
2021-03-30 | GSE160955 | GEO
Project description:Tumors exhibit high heterogeneity due to distinct genomic aberrations in individual cells. Despite this, no methods currently exist to detect these genomic abnormalities at the single-cell level. To address this, we developed Uniform Chromosome Conformation Capture (Uni-C), an efficient method that precisely detects a variety of genomic anomalies in single cells, including single nucleotide polymorphisms (SNPs), insertions and deletions (INDELs), copy number variations (CNVs), structural variations (SVs), and focal amplifications such as extrachromosomal DNA (ecDNA) and homogeneously staining regions (HSRs). Utilizing Uni-C, we characterized varied structural variations and detailed the structure of ecDNA in circulating tumor cells (CTCs), highlighting their extensive heterogeneity. We also observed differences in chromatin conformation across CTCs in mitosis and interphase, potentially serving as markers for cell vitality. Additionally, by using genomic data from Uni-C, we detected driver gene mutations in CTCs and predicted neoantigens, significantly advancing early cancer detection and treatment strategies.
2025-06-27 | GSE267871 | GEO