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291
datasets available to search
ShareScore release 0.9.0
Dataset results
291 results for “genetic variants”
Prioritization of autoimmune disease-associated genetic variants that perturb regulatory element activity in T cells [scRNA-seq]
GEO Series GSE194424. Mus musculus. 2 samples. Type: Expression profiling by high throughput sequencing.
Genetic Variants of Phospholipase C-γ2 Confer Altered Microglial Phenotypes and Differential Risk for Alzheimer’s Disease [snRNA-seq]
GEO Series GSE237494. Mus musculus. 6 samples. Type: Expression profiling by high throughput sequencing.
Single-cell multiomics of the human retina reveals hierarchical transcription factor collaboration in mediating cell type-specific effects of genetic variants on gene regulation
GEO Series GSE247157. Homo sapiens. 41 samples. Type: Expression profiling by high throughput sequencing; Genome binding/occupancy profiling by high throughput sequencing.
Genetic variants affecting RNA stability influence complex traits and disease risk I
GEO Series GSE298112. Homo sapiens. 12 samples. Type: Expression profiling by high throughput sequencing.
A genetic circuitry linking Id-proteins (Id2 and Id3) and the AKT-FOXO-mTORC1 axis to suppress innate-variant TFH cell development, maintain T cell quiescence and prevent lymphomagenesis.
GEO Series GSE64779. Mus musculus. 20 samples. Type: Expression profiling by high throughput sequencing.
U937 cells with CRISPR interference at regulatory genetic variants [ATAC-seq]
GEO Series GSE281908. Homo sapiens. 6 samples. Type: Genome binding/occupancy profiling by high throughput sequencing.
3D chromatin-based variant-to-gene maps across 57 human cell types reveal the cellular and genetic architecture of autoimmune disease susceptibility [RNA-seq]
GEO Series GSE271957. Homo sapiens. 41 samples. Type: Expression profiling by high throughput sequencing.
A study of genetic variants associated with skin traits in the Vietnamese population
GEO Series GSE248483. Homo sapiens. 96 samples. Type: SNP genotyping by SNP array.
Functional annotation of genetic variants using locally haploid human pluripotent stem cells
GEO Series GSE233683. Homo sapiens. 63 samples. Type: Other.
A multiplexed assay for exon recognition reveals that an unappreciated fraction of rare genetic variants cause large-effect disruptions to splicing
GEO Series GSE120695. Homo sapiens. 20 samples. Type: Other.
Identification of genetic variants that affect histone modifications in human cells
GEO Series GSE47991. Homo sapiens. 50 samples. Type: Genome binding/occupancy profiling by high throughput sequencing.
CRISPR gene editing and inducible pluripotent stem cell neuronal disease modelling for rare disease diagnosis: EMHM1 genetic variant analysis in Kleefstra Syndrome
GEO Series GSE178646. Homo sapiens. 12 samples. Type: Expression profiling by high throughput sequencing.
Massively parallel identification of functionally consequential noncoding genetic variants in undiagnosed rare disease patients
GEO Series GSE185795. Homo sapiens; other sequences. 10 samples. Type: Expression profiling by high throughput sequencing; Other.
NOMe-HiC: joint profiling of genetic variants, DNA methylation, chromatin accessibility, and 3D genome in the same DNA molecule
GEO Series GSE189158. Homo sapiens. 12 samples. Type: Expression profiling by high throughput sequencing; Other.
Genetic characterisation of two novel heterozygous variants disrupting H bonds and 53 GPI gene variants
<p>55 Missense/nonsense mutations in the <i>GPI</i> gene.</p>
Identification and single-base gene-editing functional validation of a cis-EPO variant as a genetic proxy for EPO-increasing therapies.
<p>Summary statistics for the genome-wide association study meta-analysis of circulating EPO in 6,127 individuals of European and African American descent. Effect sizes are aligned to allele 1. </p> <p>Description of column names:<br> # Marker - this is the marker name; chromosome:position<br> # Allele1 - the first allele for this marker in the first file where it occurs<br> # Allele2 - the second allele for this marker in the first file where it occurs<br> # Freq1 - weighted average of frequency for allele 1 across all studies<br> # FreqSE - corresponding standard error for allele frequency estimate<br> # MinFreq - minimum frequency for allele 1 across all studies<br> # MaxFreq - maximum frequency for allele 1 across all studies<br> # Effect - overall estimated effect size for allele1<br> # StdErr - overall standard error for effect size estimate<br> # P-value - meta-analysis p-value<br> # Direction - summary of effect direction for each study, with one '+' or '-' per study. Order of the studies is InCHIANTI, BLSA, HealthABC Europeans, PREVEND, HealthABC African Americans<br> # HetISq - I^2 statistic which measures heterogeneity on scale of 0-100%<br> # HetChiSq - chi-squared statistic in simple test of heterogeneity<br> # df - degrees of freedom for heterogeneity statistic<br> # HetPVal - P-value for heterogeneity statistic<br> # TotalSampleSize - overall sample size for that variant in the meta-analysis</p> <p> </p>
Identification and single-base gene-editing functional validation of a cis-EPO variant as a genetic proxy for EPO-increasing therapies.
<p>Raw fast-qc files for RNA sequencing analysis of whole <em>EPO</em> gene knock-outs generated through CRISPR-Cas9 gene-editing in HEK-293 cells compared to wild-type controls. </p> <p>Wild-type cell-lines (Empty 1 - Empty 4) were transfected with empty CRISPR-Cas9 constructs to ensure cells were treated under the same experimental conditions. Whole EPO gene knock-outs were generated using a double gRNA approach with CRISPR-Cas9 gene-targeting. Two whole EPO gene knock-out cell-lines were generated (KO-A and KO-B).</p> <p>Library preparation was performed using the TruSeq DNA HT Library Preparation Kit using the 3’ poly-A tail primer Oligo(dT) from Illumina (Illumina, California, USA). RNA Sequencing was performed using the Illumina HiSeq 2500 high-throughput sequencing system (Illumina, California, USA). We resulted in 75 bp paired-end sequences.</p> <p> </p>
IMPACT OF HUMAN IMMUNOGLOBULIN GENETIC VARIANTS ON THE EXPRESSED ANTIBODY REPERTOIRE
<p>Tables related to the PhD thesis of Eric Engelbrecht, mentored by Corey T. Watson</p>
Genetic Variants Affecting the Clinical Severity of Beta Thalassemia
ClinicalTrials.gov study NCT04918056. IPD Sharing: Not stated. Countries: 1. Publications: 0.
Genetic Variants and Iron Absorption
ClinicalTrials.gov study NCT02197624. IPD Sharing: Not stated. Countries: 1. Publications: 0.
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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.