Find research datasets worth reusing
Search datasets from major research repositories and use ShareScore to quickly assess how well each record supports discovery, access, and reuse.
606
datasets available to search
ShareScore release 0.9.0
Dataset results
606 results for “association genetics”
Dissecting genetic components associated with eye disease using integrative genomic analysis
GEO Series GSE201681. Homo sapiens. 24 samples. Type: Genome binding/occupancy profiling by high throughput sequencing; Other; Expression profiling by high throughput sequencing.
Summary data for associations between intervertebral disc degeneration and low back pain after accounting for genetic predispositions to pain
Open the record for dataset details and reuse information.
Brugada syndrome genetics is associated with phenotype severity.
<p>Dataset from Ciconte G, Monasky MM, Santinelli V, Micaglio E, Vicedomini G, Anastasia L, Negro G, Borrelli V, Giannelli L, Santini F, de Innocentiis C, Rondine R, Locati ET, Bernardini A, Mazza BC, Mecarocci V, Ćalović Ž, Ghiroldi A, D'Imperio S, Benedetti S, Di Resta C, Rivolta I, Casari G, Petretto E, Pappone C. Brugada syndrome genetics is associated with phenotype severity. Eur Heart J. 2021 Mar 14;42(11):1082-1090. doi: 10.1093/eurheartj/ehaa942. PMID: 33221895; PMCID: PMC7955973.</p> <p><strong>Abstract</strong></p> <p><strong>Aims: </strong>Brugada syndrome (BrS) is associated with an increased risk of sudden cardiac death due to ventricular tachycardia/fibrillation (VT/VF) in young, otherwise healthy individuals. Despite SCN5A being the most commonly known mutated gene to date, the genotype-phenotype relationship is poorly understood and remains uncertain. This study aimed to elucidate the genotype-phenotype correlation in BrS.</p> <p><strong>Methods and results: </strong>Brugada syndrome probands deemed at high risk of future arrhythmic events underwent genetic testing and phenotype characterization by the means of epicardial arrhythmogenic substrate (AS) mapping, and were divided into two groups according to the presence or absence of SCN5A mutation. Two-hundred probands (160 males, 80%; mean age 42.6 ± 12.2 years) were included in this study. Patients harbouring SCN5A mutations exhibited a spontaneous type 1 pattern and experienced aborted cardiac arrest or spontaneous VT/VF more frequently than the other subjects. SCN5A-positive patients exhibited a larger epicardial AS area, more prolonged electrograms and more frequently observed non-invasive late potentials. The presence of an SCN5A mutation explained >26% of the variation in the epicardial AS area and was the strongest predictor of a large epicardial area.</p> <p><strong>Conclusion: </strong>In BrS, the genetic background is the main determinant for the extent of the electrophysiological abnormalities. SCN5A mutation carriers exhibit more pronounced epicardial electrical abnormalities and a more aggressive clinical presentation. These results contribute to the understanding of the genetic determinants of the BrS phenotypic expression and provide possible explanations for the varying degrees of disease expression.</p>
Efficacy of small molecule inhibitors and genetic interference of cGAS-STING axis on development of the senescence-associated secretory phenotype (SASP) in human stromal cells
GEO Series GSE128420. Homo sapiens. 18 samples. Type: Expression profiling by high throughput sequencing.
Dataset associated with paper "Comprehensive genetic and epigenetic characterization of Lynch-Like Syndrome patients."
<p>Dataset associated with paper "Comprehensive genetic and epigenetic characterization of Lynch-Like Syndrome patients."</p> <p>This set of raw data cannot be made publicy available, but might be made available to interested researcher upon reasonable request. Please forward your request to open.science@irst.emr.it or/and l.calzari@auxologico.it.</p> <p>Description</p> <p>This dataset contains the B-values obtained from the Infinium MethylationEPIC (v1.0) BeadChip analysis for Lynch, Lynch-like, sporadic cases, and controls.</p> <p>DNA from whole blood was extracted from peripheral blood lymphocytes of individuals (Automated Extractor, Tecan Group Ltd. and Wizard Genomic DNA Purification Kit (Ref: A1125), Promega). Quality control and quantification of DNA was assessed by using NanoPhotometer Pearl (Implen GmbH). Bisulfite converted DNA was amplified, fragmented and hybridised to Illumina Infinium Human Methylation EPIC Beadchip using standard Illumina protocols. Fluorescence intensities were captured by using the fluorescent scanner Illumina HiScan SQ (Illumina). Quality control, pre-processing and generation of β-values matrix were performed by using the ChAMP package (release 2.32.0) package, implemented R environment (version 4.3.1): after the quality control/pre-processing step, 740840 probes and 123 samples were retained (Lynch, n=32; Lynch-Like, n=32; Sporadic. N=30; Controls, n= 29). After BMIQ normalization, data were adjusted for batch effect by using ComBat library. </p>
MTF1 genetic variants (rs28411034 and rs3748682) are associated with lung cancer risk
<p>The genotyping of<strong><em> </em></strong><em>MTF1</em> SNPs (rs473279, rs28411034, rs28411352, and rs3748682) was identified by the Agena MassARRAY system among 670 healthy controls and 670 patients with LC.</p>
ScienceDex guides
Understand access before you commit
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.