Ontology highlight
ABSTRACT:
PROVIDER: PRJNA1256785 | ENA |
REPOSITORIES: ENA
Similar Datasets
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:Phenotyped Anopheles darlingi colony
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Project description:Glioblastoma multiforme is the most common and aggressive type of brain cancer. Little is known about the complex relationship between genomic and epigenomic as tumour progresses. We present the following base resolution whole genome maps of matched tumour/margin and blood samples from a glioblastoma multiforme patient:<br>* Single nucleotide variations (SNVs), copy number variations (CNVs) and structural variations (SVs) as revealed by DNA sequencing. </br> <br>* 5-methylcytosine and 5-hydroxymethylcytosine levels obtained using (oxidative)bisulfite sequencing. </br> <br>* Transcript levels produced using RNA sequencing.</br> <br>For the three samples with very large bam raw data files ('Blood DNA-seq', 'Margin DNA-seq' and 'Tumour DNA-seq'), bai index files are available from https://www.ebi.ac.uk/arrayexpress/files/E-MTAB-5171/E-MTAB-5171.additional.1.zip
2017-02-24 | E-MTAB-5171 | biostudies-arrayexpress
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:The associations of gut microbial structural variations with insomnia
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