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106
datasets available to search
ShareScore release 0.9.0
Dataset results
106 results for “pathogenic variant”
Enhancer Sequence Variants and Transcription Factor Deregulation Synergize to Construct Pathogenic Regulatory Circuits in B Cell Lymphoma
GEO Series GSE62246. Homo sapiens. 137 samples. Type: Expression profiling by array; Expression profiling by high throughput sequencing; Genome binding/occupancy profiling by high throughput sequencing.
Novel insights into the role of the histone variant H2A.Z in the plant pathogen Fusarium fujikuroi
GEO Series GSE237765. Fusarium fujikuroi. 25 samples. Type: Expression profiling by high throughput sequencing; Genome binding/occupancy profiling by high throughput sequencing.
Enhancer poising enables pathogenic gene activation by noncoding variants [ATAC-seq]
GEO Series GSE299694. Mus musculus. 16 samples. Type: Genome binding/occupancy profiling by high throughput sequencing.
RNA sequencing of fibroblasts from patients with pathogenic KAT5 variants
GEO Series GSE154199. Homo sapiens. 11 samples. Type: Expression profiling by high throughput sequencing.
Classifying pathogenic variants in amyloid beta using intramolecular genetic interaction profiling
GEO Series GSE247583. Saccharomyces cerevisiae. 6 samples. Type: Other.
Enhancer Sequence Variants and Transcription Factor Deregulation Synergize to Construct Pathogenic Regulatory Circuits in B Cell Lymphoma (ChIP-Seq, FAIRE-Seq)
GEO Series GSE62245. Homo sapiens. 93 samples. Type: Genome binding/occupancy profiling by high throughput sequencing.
Novel insights into the role of the histone variant H2A.Z in the plant pathogen Fusarium fujikuroi [ChIP-seq]
GEO Series GSE237763. Fusarium fujikuroi. 13 samples. Type: Genome binding/occupancy profiling by high throughput sequencing.
SCN1A pathogenic variants do not have a distinctive blood-derived DNA methylation signature
GEO Series GSE280241. Homo sapiens. 45 samples. Type: Methylation profiling by array.
Loss of an oligodendrocyte specific silencer element provides a framework to assess the pathogenic impact of lamin B1 structural variants
GEO Series GSE238093. Homo sapiens; Mus musculus. 7 samples. Type: Genome binding/occupancy profiling by high throughput sequencing.
Novel insights into the role of the histone variant H2A.Z in the plant pathogen Fusarium fujikuroi [Mnase-seq]
GEO Series GSE237764. Fusarium fujikuroi. 2 samples. Type: Genome binding/occupancy profiling by high throughput sequencing.
Enhancer Sequence Variants and Transcription Factor Deregulation Synergize to Construct Pathogenic Regulatory Circuits in B Cell Lymphoma (array)
GEO Series GSE61912. Homo sapiens. 30 samples. Type: Expression profiling by array.
A New Diagnostic Paradigm for Retinitis Pigmentosa Secondary to USH2A Pathogenic Variants
ClinicalTrials.gov study NCT06545253. IPD Sharing: Not stated. Countries: 0. Publications: 0.
High frequency of pathogenic germline variants in genes associated with homologous recombination repair in patients with advanced solid cancers
GEO Series GSE131027. Homo sapiens. 92 samples. Type: Expression profiling by array.
Enhancer Sequence Variants and Transcription Factor Deregulation Synergize to Construct Pathogenic Regulatory Circuits in B Cell Lymphoma (RNA-Seq)
GEO Series GSE62241. Homo sapiens. 14 samples. Type: Expression profiling by high throughput sequencing.
Saturation genome editing of 11 codons and exon 13 of BRCA2 determines pathogenicity of variants
GEO Series GSE238143. Mus musculus. 49 samples. Type: Other.
Zygotic Arrest 1 Pathogenic Variants Disrupt Maternal mRNA Stability and Cause Oocyte Maturation Defects in Humans
GEO Series GSE261831. Mus musculus. 18 samples. Type: Expression profiling by high throughput sequencing.
Lentiviral-mediated phenotypic correction of type 1 and type 2 ABCA3 pathogenic variants
GEO Series GSE302633. Homo sapiens. 10 samples. Type: Expression profiling by high throughput sequencing.
Genomic and Immune Landscape of Pancreatic Ductal Adenocarcinoma Associated with Germline Pathogenic Variants in ATM
GEO Series GSE296243. Homo sapiens. 24 samples. Type: Expression profiling by high throughput sequencing.
A cellular model of the oncogenic FOXL2 somatic pathogenic variant C134W provides new insights in pathogenicity
GEO Series GSE225781. Homo sapiens. 6 samples. Type: Expression profiling by high throughput sequencing.
Identification and characterization of pathogenic ZNF687 variant in acute myeloid leukemia
GEO Series GSE240600. Homo sapiens. 8 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.