Similar Datasets
Project description:BGISEQ-500 RNA-seq demo FASTQ data
| PRJEB15426 | ENA
Project description:BGISEQ-500 ChIP-Seq SE50 demo data
| PRJEB20179 | ENA
Project description:The demo datasets available for MSCohort analysis. You can download to inspect their formats and practice using the software tool. This dataset contains raw files of 7 urine QC samples, spectronaut analysis results and MSCohort report results
2024-03-06 | PXD050389 | iProX
Project description:The age of digitization requires rapid design and re-design of enterprises. Rapid changes can be realized using conceptual modelling. The design and engineering methodology for organizations (DEMO) is an established modelling method for representing the organization domain of an enterprise. However, heterogeneity in enterprise design stakeholders generally demand for transformations between conceptual modelling languages. Specifically, in the case of DEMO, a transformation into business process modelling and notation (BPMN) models is desirable to account to both, the semantic sound foundation of the DEMO models, and the wide adoption of the de-facto industry standard BPMN. Model transformation can only be efficiently applied if tool support is available. Our research starts with a state-of-the-art analysis, comparing existing DEMO modelling tools. Using a design science research approach, our main contribution is the development of a DEMO modelling tool on the ADOxx platform. One of the main features of our tool is that it addresses stakeholder heterogeneity by enabling transformation of a DEMO organization construction diagram (OCD) into a BPMN collaboration diagram. A demonstration case shows the feasibility of our newly developed tool.
| S-EPMC7254542 | biostudies-literature
Project description:Objective:To describe a phenotype caused by ATP1A3 mutations, which manifests as dystonia, dysmorphism of the face, encephalopathy with developmental delay, brain MRI abnormalities always including cerebellar hypoplasia, no hemiplegia (Ø) (D-DEMØ), and neonatal onset. Methods:Review and analysis of clinical and genetic data. Results:Patients shared the above traits and had whole-exome sequencing that showed de novo variants of the ATP1A3 gene, predicted to be disease causing and occurring in regions of the protein critical for pump function. Patient 1 (c.1079C>G, p.Thr360Arg), an 8-year-old girl, presented on day 1 of life with episodic dystonia, complex partial seizures, and facial dysmorphism. MRI of the brain revealed cerebellar hypoplasia. Patient 2 (c.420G>T, p.Gln140His), an 18-year-old man, presented on day 1 of life with hypotonia, tremor, and facial dysmorphism. He later developed dystonia. MRI of the brain revealed cerebellar hypoplasia and, later, further cerebellar volume loss (atrophy). Patient 3 (c.974G>A, Gly325Asp), a 13-year-old girl, presented on day 1 of life with tremor, episodic dystonia, and facial dysmorphism. MRI of the brain showed severe cerebellar hypoplasia. Patient 4 (c.971A>G, p.Glu324Gly), a 14-year-old boy, presented on day 1 of life with tremor, hypotonia, dystonia, nystagmus, facial dysmorphism, and later seizures. MRI of the brain revealed moderate cerebellar hypoplasia. Conclusions:D-DEMØ represents an ATP1A3-related phenotype, the observation of which should trigger investigation for ATP1A3 mutations. Our findings, and the presence of multiple distinct ATP1A3-related phenotypes, support the possibility that there are differences in the underlying mechanisms.
| S-EPMC7413631 | biostudies-literature
Project description:We developed a spatially resolved RNA-seq protocol based on laser capture microdissection (LCM) and spatial barcoding strategy termed Spatial-seq. Here, we provide the demo transcriptomic data derived from mouse hypothalamus and isocortex regions for applications of our newly proposed spatial deconvolution algorithm termed Bulk2Space. We want to reveal the spatial heterogeneity and cellular diversity within the bulk brain region.
2022-01-09 | GSE192999 | GEO