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291
datasets available to search
ShareScore release 0.9.0
Dataset results
291 results for “Genetic variants”
Functional Variant Discovery Identifies SPRY2 as a Genetic Mechanism Linking Wood Smoke with Asthma
GEO Series GSE283113. Homo sapiens. 32 samples. Type: Genome binding/occupancy profiling by high throughput sequencing; Expression profiling by high throughput sequencing.
Identification of functional genetic variants in transformed Ba/F3 cells expressing U2AF35(S34F)
GEO Series GSE115060. Mus musculus. 8 samples. Type: Expression profiling by high throughput sequencing.
Preimplantation Genetic Testing Analysis for a Chinese Family with Hereditary Spherocytosis Caused by a Novel Splicing Variant of SPTB
GEO Series GSE242733. Homo sapiens. 7 samples. Type: Genome variation profiling by SNP array.
An evolved AAV variant enables efficient genetic engineering of murine T cells
GEO Series GSE216819. Mus musculus. 10 samples. Type: Other.
Genetic Copy Number Variants in Myocardial Infarction Patients with Hyperlipidemia
GEO Series GSE31276. Homo sapiens. 40 samples. Type: Genome variation profiling by SNP array; SNP genotyping by SNP array.
Genetic and epigenetic screens in primary human T cells link candidate causal autoimmune variants to T cell networks
GEO Series GSE297472. Homo sapiens. 21 samples. Type: Expression profiling by high throughput sequencing.
Functional characterization of genetic variants associated with upper digestive cancers [ChIP-Seq]
GEO Series GSE240213. Homo sapiens. 4 samples. Type: Genome binding/occupancy profiling by high throughput sequencing.
PWD/Ph-encoded genetic variants suppress ApcMin-triggered intestinal tumor formation by modulating the cellular Wnt/beta-Catenin response
GEO Series GSE148370. Mus musculus. 101 samples. Type: Expression profiling by high throughput sequencing; Methylation profiling by high throughput sequencing.
Dataset related to the article "Spectrum of Rare and Common Genetic Variants in Arrhythmogenic Cardiomyopathy Patients"
<p>This record contains raw data related to the article “Spectrum of Rare and Common Genetic Variants in Arrhythmogenic Cardiomyopathy Patients”.</p> <p>Abstract</p> <p>Arrhythmogenic cardiomyopathy (ACM) is a rare inherited disorder, whose genetic cause is elusive in about 50-70% of cases. ACM presents a variable disease course which could be influenced by genetics. We performed next-generation sequencing on a panel of 174 genes associated with inherited cardiovascular diseases on 82 ACM probands (i) to describe and classify the pathogenicity of rare variants according to the American College of Medical Genetics and Genomics both for ACM-associated genes and for genes linked to other cardiovascular genetic conditions; (ii) to assess, for the first time, the impact of common variants on the ACM clinical disease severity by genotype-phenotype correlation and survival analysis. We identified 15 (likely) pathogenic variants and 66 variants of uncertain significance in ACM-genes and 4 high-impact variants in genes never associated with ACM (<em>ABCC9</em>, <em>APOB</em>, <em>DPP6</em>, <em>MIB1</em>), which deserve future consideration. In addition, we found 69 significant genotype-phenotype associations between common variants and clinical parameters. Arrhythmia-associated polymorphisms resulted in an increased risk of arrhythmic events during patients' follow-up. The description of the genetic framework of our population and the observed genotype-phenotype correlation constitutes the starting point to address the current lack of knowledge in the genetics of ACM.</p>
EML4-ALK variant-specific genetic interactions shape lung tumorigenesis
GEO Series GSE301214. Mus musculus. 24 samples. Type: Genome binding/occupancy profiling by high throughput sequencing.
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>
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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.