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106
datasets available to search
ShareScore release 0.9.0
Dataset results
106 results for “pathogenic variant”
Novel insights into the role of the histone variant H2A.Z in the plant pathogen Fusarium fujikuroi [RNA-seq]
GEO Series GSE237762. Fusarium fujikuroi. 10 samples. Type: Expression profiling by high throughput sequencing.
Enhancer Poising Enables Pathogenic Gene Activation by Noncoding Variants [CUT&RUN]
GEO Series GSE299697. Mus musculus. 4 samples. Type: Genome binding/occupancy profiling by high throughput sequencing.
Stem cell-derived human glutamatergic neurons with pathogenic KCNQ2 variants display hyperactive bursting phenotypes
GEO Series GSE291694. Mus musculus. 42 samples. Type: Expression profiling by high throughput sequencing.
Transcriptionnal analysis of a Photorhabdus luminescens TT01 variant, named VAR*, which is a colonial and phenotypic variant displaying delayed pathogenicity in the insect, Spodoptera littoralis.
GEO Series GSE24627. Photorhabdus laumondii subsp. laumondii TTO1. 4 samples. Type: Expression profiling by array.
Mislocalization of pathogenic RBM20 variants in dilated cardiomyopathy is caused by loss-of-interaction with Transportin-3
GEO Series GSE220833. Homo sapiens. 60 samples. Type: Expression profiling by high throughput sequencing; Other.
Transcriptional activity of an MPRA library containing sequences of genomic origin bound by the transcription factor CRX measured in retinas from mice carrying pathogenic CRX variants
GEO Series GSE230090. Mus musculus; synthetic construct. 38 samples. Type: Other.
Enhancer Poising Enables Pathogenic Gene Activation by Noncoding Variants [RNA-seq]
GEO Series GSE299698. Mus musculus. 4 samples. Type: Expression profiling by high throughput sequencing.
Single-cell multiome and enhancer mapping of human retinal pigment epithelium and choroid nominate pathogenic variants in age-related macular degeneration
GEO Series GSE289703. Homo sapiens. 12 samples. Type: Other.
Pathogenic variants in TMEM184B cause a neurodevelopmental syndrome associated with alteration of metabolic signaling
GEO Series GSE289220. Homo sapiens. 12 samples. Type: Expression profiling by high throughput sequencing.
Pathogenic TSC2 variants alter developmental trajectories of human cortical organoids and perturb cell-cell communication networks [scRNA-seq]
GEO Series GSE247368. Homo sapiens. 12 samples. Type: Expression profiling by high throughput sequencing.
Conditionally Pathogenic Genetic Variants of a Hematopoietic Disease-Suppressing Enhancer
GEO Series GSE179790. Mus musculus. 10 samples. Type: Expression profiling by high throughput sequencing.
Enhancer poising enables pathogenic gene activation by noncoding variants [CUT&Tag]
GEO Series GSE299695. Mus musculus. 32 samples. Type: Genome binding/occupancy profiling by high throughput sequencing.
An oligodendrocyte silencer element underlies the pathogenic impact of lamin B1 structural variants
GEO Series GSE285491. Homo sapiens. 6 samples. Type: Genome variation profiling by array.
DNA methylation profiling to assess pathogenicity of BRCA1 unclassified variants in breast cancer
GEO Series GSE72277. Homo sapiens. 60 samples. Type: Methylation profiling by array.
Pathogenic TSC2 variants alter developmental trajectories of human cortical organoids and perturb cell-cell communication networks
GEO Series GSE247369. Homo sapiens. 92 samples. Type: Expression profiling by high throughput sequencing.
Progressive neuroinflammation and deficits in motor function in a mouse model with an Epg5 pathogenic variant of Vici syndrome
GEO Series GSE307849. Mus musculus. 16 samples. Type: Expression profiling by high throughput sequencing.
A pathogenic alpha synuclein variant exacerabtes disease progression in a neuron-specific Gba KO mouse
GEO Series GSE289837. Mus musculus. 12 samples. Type: Expression profiling by high throughput sequencing.
Pathogenic TSC2 variants alter developmental trajectories of human cortical organoids and perturb cell-cell communication networks [bulk RNA-seq]
GEO Series GSE247367. Homo sapiens. 80 samples. Type: Expression profiling by high throughput sequencing.
Two pathogenic germline truncating variants of BRCA2 confer different haploinsufficiency phenotypes
GEO Series GSE272335. Homo sapiens. 9 samples. Type: Expression profiling by high throughput sequencing.
Pathogenic PPP2R5D variants alters the transcriptome of patient iPSC-derived glutamatergic neurons
GEO Series GSE266958. Homo sapiens. 18 samples. Type: Expression profiling by high throughput sequencing.
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.