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152
datasets available to search
ShareScore release 0.9.0
Dataset results
152 results for “Rare Diseases”
Increased burden of rare risk variants across gene expression networks predisposes to sporadic Parkinson’s disease
GEO Series GSE276032. Homo sapiens. 9 samples. Type: Expression profiling by high throughput sequencing.
Identification of skewed X chromosome inactivation using exome and transcriptome sequencing in patients with suspected rare genetic disease
GEO Series GSE234607. Homo sapiens. 112 samples. Type: Expression profiling by high throughput sequencing.
Changes in the level of expression of genes involved in the pathogenic mechanisms in rare, inherited metabolic diseases.
GEO Series GSE124283. Homo sapiens. 144 samples. Type: Expression profiling by array.
Transcriptional profiling of striatum from the Q140 mouse model of Huntington's disease, from A rare genetic variant confers resistance to neurodegeneration across multiple neurological disorders by a
GEO Series GSE281823. Mus musculus. 40 samples. Type: Expression profiling by high throughput sequencing.
IPSC-derived neuronal cultures expressing the Alzheimer's disease associated rare TREM2 R47H variant enables the construction of an Aβ-induced gene regulatory network
GEO Series GSE143951. Homo sapiens. 7 samples. Type: Expression profiling by array.
Medication Adherence and Non-adherence in Adults With Rare Disease
ClinicalTrials.gov study NCT04541875. IPD Sharing: UNDECIDED. Countries: 0. Publications: 0.
ERN ReCONNET Study on COVID-19 Vaccination in Rare and Complex Connective Tissue Disease (VACCINATE)
ClinicalTrials.gov study NCT04702295. IPD Sharing: Not stated. Countries: 0. Publications: 0.
Establish a "Taiwan Rare Disorder Tissue Bank", to Collect and Repost Biological Samples and Disease Information From Patients With Rare Disorders
ClinicalTrials.gov study NCT01384305. IPD Sharing: Not stated. Countries: 0. Publications: 0.
Cannabidiol in Children and Young Adults With Rare Disease-associated Severe Epilepsy
ClinicalTrials.gov study NCT05803434. IPD Sharing: Not stated. Countries: 0. Publications: 0.
Novel Diagnostic and Prognostic Predictors in Fabry Cardiomyopathy: Proof of Concept in a Rare Disease
ClinicalTrials.gov study NCT07351136. IPD Sharing: Not stated. Countries: 0. Publications: 0.
Rare germline copy number variations and disease susceptibility in familial melanoma
GEO Series GSE85010. Homo sapiens. 254 samples. Type: Genome variation profiling by SNP array; Genome variation profiling by genome tiling array.
Rare Disease: Cardiac Risk Assessment With MRI in Patients With Myotonic Dystrophy Type 1
<p>Dataset from the article Alì M, Monti CB, Melazzini L, Cardani R, Fossati B, Cavalli M, Chow K, Secchi F, Meola G, Sardanelli F. Rare Disease: Cardiac Risk Assessment With MRI in Patients With Myotonic Dystrophy Type 1. Front Neurol. 2020 Mar 19;11:192. doi: 10.3389/fneur.2020.00192. PMID: 32265828; PMCID: PMC7098463.</p> <p>Abstract</p> <p><strong>Introduction:</strong> To evaluate myocardial strain and extracellular volume in myotonic dystrophy type 1 (DM1) patients as potential imaging biomarkers of subclinical cardiac pathology. <strong>Materials and methods:</strong> We retrospectively analyzed 9 DM1 patients without apparent cardiac disease who had undergone cardiac magnetic resonance at our center. Patients were age- and sex-matched with healthy controls. The Mann-Whitney U test was used to compare cardiac strain between the two groups. The <em>t</em>-test was used to compare the extracellular volume obtained in DM1 patients with that in healthy subject. Spearman's ρ was used for studying the associations among imaging parameters. <strong>Results:</strong> Global cardiac strain (median -19.1%; IQR -20.5%, -16.5%) in DM1 patients was lower (<em>p</em> = 0.011) than that in controls (median-21.7%; IQR-22.7%,-21.3%). Global extracellular volume in DM1 patients (median 32.3%; IQR 29.3%,36.8%) was significantly (<em>p</em> = 0.008) higher than that reported in literature in healthy subjects (median 25.6%; IQR 19.9%,31.9%). Global cardiac strain showed a strong, positive correlation with septal strain (ρ = 0.767, <em>p</em> = 0.016) and with both global (ρ = 0.733 <em>p</em> = 0.025) and septal extracellular volume (ρ = 0.767, <em>p</em> = 0.016). <strong>Discussion:</strong> The increase in cardiac extracellular volume and decrease in strain are signs of early cardiac pathology in DM1. Physicians dealing with DM1 may take into consideration cardiac magnetic resonance as a screening tool to identify early cardiac involvement in this condition.</p>
ScienceDex guides
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These curated guides explain access requirements, typical timelines, costs, and reuse considerations for widely used research datasets.
Allen Brain Atlas
Allen Brain Atlas is an Allen Institute collection of brain map atlases, datasets, APIs, and analysis tools covering mouse, human, and non-human primate brain resources.
Annotated Behaviour and Observability Dataset (ABODe)
ABODe is a University of Edinburgh DataShare dataset for behavior classification in group-housed mice using home-cage video, identities, bounding boxes, ground-plate positions, and annotator labels.
DANDI Archive for NWB datasets
DANDI is a BRAIN Initiative archive for publishing and sharing neurophysiology data, including electrophysiology, optophysiology, and behavioral data packaged as NWB and related standards.
International Brain Laboratory public data
The International Brain Laboratory public data releases expose standardized mouse decision-making experiments, including Neuropixels recordings, widefield calcium imaging, behavior, and session metadata accessed through the ONE API.
OpenNeuro
OpenNeuro is a free, open platform for sharing neuroimaging datasets, with public search, dataset pages, and download paths for web, S3, DataLad, and the OpenNeuro CLI.