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Search datasets from major research repositories and use ShareScore to quickly assess how well each record supports discovery, access, and reuse.
106
datasets available to search
ShareScore release 0.9.0
Dataset results
106 results for “pathogenic variant”
Pathogenic variants in PRDM16 impair cardiomyocytes maturation and cause cardiomyopathy phenotypes in humans
GEO Series GSE193877. Homo sapiens. 6 samples. Type: Expression profiling by high throughput sequencing.
Pathogenic variants in PRDM16 impair cardiomyocytes maturation and cause cardiomyopathy phenotypes in mice
GEO Series GSE193873. Mus musculus. 5 samples. Type: Expression profiling by high throughput sequencing.
Pathogenic variants in PRDM16 impair cardiomyocytes maturation and cause cardiomyopathy phenotypes in humans and mice
GEO Series GSE193878. Homo sapiens; Mus musculus. 11 samples. Type: Expression profiling by high throughput sequencing.
Antigen-receptor stimulation drives purifying selection against pathogenic mitochondrial DNA variants that dysregulate lymphocyte responses
GEO Series GSE182887. Mus musculus. 23 samples. Type: Other.
Annotating pathogenicity of missense variants from homologous proteins
Open the record for dataset details and reuse information.
Kids First: Single gene pathogenic variants associated with BEEC (Bladder extrophy, Epispadias, Complex)
Namespace hosted on the Kids First DRC FHIR services at fhir.kidsfirstdrc.org
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.