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Dataset results
198 results for “variant analysis”
TAILVAR (Terminal codon Analysis and Improved prediction of Lengthened VARiants)
<p>This dataset includes relevant files for developing the TAILVAR score designed to assess the functional impact of <strong>stop-loss variants</strong> occurring at stop codons (TAA, TGA, TAG). <strong>TAILVAR</strong> is built using a Random Forest model that predicts the pathogenicity of <strong>stop-loss variants</strong>. By integrating a combination of in-silico prediction scores, transcript features, and protein context information, <strong>TAILVAR</strong> provides a score ranging from 0 to 1, indicating the probability of a variant being pathogenic.</p> <p>For more information, please visit <a href="https://github.com/dr-yoon/TAILVAR">https://github.com/dr-yoon/TAILVAR</a></p>
GTEx analysis for the paper entitled: The histone variant H2A.J is enriched in luminal epithelial gland cells
<p>H2A.J is a poorly studied mammalian-specific variant of histone H2A. We used immunohistochemistry to study its localization in various human and mouse tissues. H2A.J showed cell-type specific expression with a striking enrichment in luminal epithelial cells of multiple glands including those of breast, prostate, pancreas, thyroid, stomach, and salivary glands. H2A.J was also highly expressed in many carcinoma cell lines and in particular, those derived from luminal breast and prostate cancer. H2A.J thus appears to be a novel marker for luminal epithelial cancers. Knocking-out the H2AFJ gene in T47D luminal breast cancer cells reduced the expression of several estrogen-responsive genes which may explain its putative tumorigenic role in luminal-B breast cancer.</p>
Transcriptome analysis of the effect of over-expressing H2A.J mutants in proliferating WI38 fibroblasts for the paper entitled: The H2A.J histone variant contributes to Interferon-Stimulated Gene expression in senescence by its weak interaction with H1 and the derepression of repeated DNA sequences
<p>Abstract for overall study:</p> <p>The histone variant H2A.J was previously shown to accumulate in senescent human fibroblasts with persistent DNA damage to promote inflammatory gene expression, but its mechanism of action was unknown. We show that H2A.J accumulation contributes to weakening the association of histone H1 to chromatin and increasing its turnover. Decreased H1 in senescence is correlated with increased expression of some repeated DNA sequences, increased expression of STAT/IRF transcription factors, and transcriptional activation of Interferon-Stimulated Genes (ISGs). The H2A.J-specific Val-11 moderates the transcriptional activity of H2A.J, and H2A.J-specific Ser-123 can be phosphorylated in response to DNA damage with potentiation of its transcriptional activity by the phospho-mimetic S123E mutation. Our work demonstrates the functional importance of H2A.J-specific residues and potential mechanisms for its function in promoting inflammatory gene expression in senescence.</p> <p>Specific description for this dataset:</p> <p>H2A.J differs from canonical H2A only by a valine at position 11 instead of alanine, and the 7 C-terminal amino acids containing a potential minimal phosphorylation site SQ for DNA-damage response kinases. To test the functional importance of these H2A.J-specific sequences, we mutated Val-11 to Ala as is found in all canonical H2A sequences, and we mutated Ser-123 to either Glu to mimic a phospho-serine residue or to Ala to prevent phosphorylation. We also substituted the C-terminus of H2A.J with the C-terminus of H2A. These mutants, WT-H2A.J and canonical H2A-type1 were ectopically expressed in proliferating fibroblasts, and their microarray transcriptomes were compared to that of proliferating and senescent fibroblasts without ectopic histone expression. Genome-wide transcriptome analysis indicated that senescent fibroblasts clustered distinctly from proliferating fibroblasts, and proliferating fibroblasts expressing the H2A.J-V11A and H2A.J-S123E mutants clustered distinctly from fibroblasts expressing the other H2A.J mutants, WT-H2A.J, and H2A. Hallmark gene set enrichment analysis of the transcriptomes of fibroblasts expressing H2A.J-V11A or H2A.J-S123E versus control proliferating fibroblasts indicated that they showed the same highly significant enrichment for the Epithelial-Mesenchyme Transition, TNF-Alpha Signaling Via NF-kB, and Inflammatory Response gene sets. Notable inflammatory genes including IL1A, IL1B, IL6, CXCL8, and CCL2 are contained in these gene sets and are often induced in senescence as part of the senescence-associated secretory phenotype. Heat maps showed that the H2A.J-V11A and H2A.J-S123E mutants were particularly apt at activating the expression of these inflammatory genes in proliferating fibroblasts</p>
DATA ANALYSIS - SARS-COV-2 ( Del69-70 VARIANT ) – NEW UK MUTANTS
<p>The data for S - genome sequence analysis known as Del69-70 is under variant of concern ( VOC ) . It is also termed as variant of investigation ( VUI ) . The data for VUI is statistically analysed by datewise and regionwise . The software used for data analysis is CURVE FINDER V.1.4 . The reproducibility of correlation and standard error is reported here for analysis of scattered data an attempt to study the Rational Fit and Harris Fit .</p>
Analysis of variant-dependent m6A modifications within the Human genome
<p>Interactive and machine-readable results produced by the <a href="https://github.com/cumbof/m6Ad-SNVs" target="_blank" rel="noopener">m6Ad-SNVs</a> tool to asses if m6A-distal SNVs affect DRACH site accessibility, specifically by evaluating the alteration of base-pairing of nucleotides within segments of the DRACH motif.</p> <p>These results contain the predicted m6Ad-SNV candidates with the length of the reference and m6Ad-SNV-containing alternate sequences limited to 250 base pairs. This constraint has been applied to maintain the reliability of the results predicted by RNAFold (<a href="https://www.tbi.univie.ac.at/RNA/">ViennaRNA</a> package). The sequence composition contains up to 100 base pairs from 3'UTRs, with the remaining base pairs limited to the last two exons.</p>
Functional genomics analysis to disentangle the role of genetic variants in major depression - Supplementary Tables
<p>This entry contains the data generated by the study "Functional genomics analysis to disentangle the role of genetic variants in major depression" that are part of the Supplementary information of the article describing the study.</p> <p>The entry contains the following data:</p> <p><strong>Supplementary Tables S1-S7</strong></p> <p>Supplementary Table S1. Summary of resources.</p> <p>Supplementary Table S2. Causal GVs for MD.</p> <p>Supplementary Table S3. pGenes functional and disease enrichment analysis.</p> <p>Supplementary Table S4. Fine-mapped MD causal GVs disease enrichment analysis.</p> <p>Supplementary Table S5. Colocalizing GWAS-eQTLs association to disease.</p> <p>Supplementary Table S6. TFBS analysis.</p> <p>Supplementary Table S7. GVs state annotation. </p>
Mammary single-cell RNA-seq analysis and prostate cancer survival as a function of H2AFJ expression for the paper entitled: The histone variant H2A.J is enriched in luminal epithelial cells
<p>H2A.J is a poorly studied mammalian-specific variant of histone H2A. We used immunohistochemistry to study its localization in various human and mouse tissues. H2A.J showed cell-type specific expression with a striking enrichment in luminal epithelial cells of multiple glands including those of breast, prostate, pancreas, thyroid, stomach, and salivary glands. H2A.J was also highly expressed in many carcinoma cell lines and in particular, those derived from luminal breast and prostate cancer. H2A.J thus appears to be a novel marker for luminal epithelial cancers. Knocking-out the H2AFJ gene in T47D luminal breast cancer cells reduced the expression of several estrogen-responsive genes which may explain its putative tumorigenic role in luminal-B breast cancer.</p>
A common NFKB1 variant detected through antibody analysis in UK Biobank predicts risk of infection and allergy: Summary statistics - Health records
<p>Infectious agents contribute significantly to the global burden of diseases, through both acute infection and their chronic sequelae. We leveraged the UK Biobank to identify genetic loci that influence humoral immune response to multiple infections. From 45 genome-wide association studies in 9,611 participants from UK Biobank, we identified NFKB1 as a locus associated with quantitative antibody responses to multiple pathogens including those from the herpes, retro- and polyoma-virus families. An insertion-deletion variant thought to affect NFKB1 expression (rs28362491), was mapped as the likely causal variant. This variant has persisted throughout hominid evolution and could play a key role in regulation of the immune response. Using 121 infection and inflammation related traits in 487,297 UK Biobank participants, we show that the deletion allele was associated with an increased risk of infection from diverse pathogens but had a protective effect against allergic disease. We propose that altered expression of NFKB1, as a result of the deletion, modulates haematopoietic pathways, and likely impacts cell survival, antibody production, and inflammation. Taken together, we show that disruptions to the tightly regulated immune processes may tip the balance between exacerbated immune responses and allergy, or increased risk of infection and impaired resolution of inflammation. </p> <p>-------------------------------------------------------------------------------------</p> <p>This dataset contains GWAS summary statistics for infection, inflammation, and allergy related traits in 487,297 individuals</p>
A common NFKB1 variant detected through antibody analysis in UK Biobank predicts risk of infection and allergy: Summary statistics - Serology
<p>Infectious agents contribute significantly to the global burden of diseases, through both acute infection and their chronic sequelae. We leveraged the UK Biobank to identify genetic loci that influence humoral immune response to multiple infections. From 45 genome-wide association studies in 9,611 participants from UK Biobank, we identified NFKB1 as a locus associated with quantitative antibody responses to multiple pathogens including those from the herpes, retro- and polyoma-virus families. An insertion-deletion variant thought to affect NFKB1 expression (rs28362491), was mapped as the likely causal variant. This variant has persisted throughout hominid evolution and could play a key role in regulation of the immune response. Using 121 infection and inflammation related traits in 487,297 UK Biobank participants, we show that the deletion allele was associated with an increased risk of infection from diverse pathogens but had a protective effect against allergic disease. We propose that altered expression of NFKB1, as a result of the deletion, modulates haematopoietic pathways, and likely impacts cell survival, antibody production, and inflammation. Taken together, we show that disruptions to the tightly regulated immune processes may tip the balance between exacerbated immune responses and allergy, or increased risk of infection and impaired resolution of inflammation. </p> <p>-------------------------------------------------------------------------------------</p> <p>This dataset contains GWAS summary statistics for quantitative antibody responses in 9611 individuals and results for a meta-analysis of UK Biobank and CoLaus/PsyCoLaus antibody responses.</p> <p> </p>
Genome-wide analysis identified candidate variants and genes associated with heat stress adaptation in Egyptian sheep breeds
<p>The current study was conducted from 2009 to 2019 in three hot and dry agroecological zones in Egypt: Western Desert coastal zone, New Valley desert oasis, and hot-dry Upper Egypt. Within these zones, three local sheep breeds were studied: Barki (83 ewes), Wahati (55 ewes) and Saidi (68 ewes). During the study period, the animals exercised under natural heat stress (simulating summer grazing on poor pasture). Meteorological and physiological parameters were measured and recorded. The heat tolerance index of the animals was calculated to identify animals with high and low heat tolerance based on the animals' response to the five main physiological parameters (scale from 0 to 5). DNA samples were extracted for genomic analysis. The genetic diversity measurements showed a significant influence of breed and location on the populations. The influence of breed is more significant than that of location. The inbreeding analysis shows that the desert breeds (Wahati and Barki) have lower values than the urban breed (Saidi). The high rate of sub-clustering indicates the process of sub-population through inbreeding pressure. Wahati and Barki are very distinct breeds with strong identification, while Saidi breed has crosses with other breeds. The most significant SNPs associated with heat tolerance were found in MYO5A, PRKG1, GSTCD, and RTN1 genes (P < 0.0001). MYO5A had an effect of 0.74 on the trait heat tolerance in the studied population. It produces a protein that is widely distributed in the melanin-producing neural crest of the skin. Genetic association between genetic and phenotypic variations showed that OAR1 18300122.1, located in ST3GAL3, had the greatest positive effect on heat tolerance. GWAS analysis identified SNPs associated with heat tolerance in the PLCB1, STEAP3, KSR2, UNC13C , PEBP4, and GPAT2 genes.</p>
Systematic analysis of disease-linked rare germline variants reveals new classes of cancer predisposing genes
<ul> <li>GEMs_Liver-HCC: 312 cancer patient-specific genome-scale metabolic models (GEMs) for Liver-HCC reconstructed using the RNA-seq data from PCAWG-TCGA Liver-HCC samples and generic human GEM 'Recon 2M.2'</li> <li>GEMs_Lung-SCC: 493 cancer patient-specific GEMs for Lung-SCC reconstructed using the RNA-Seq data from PCAWG-TCGA Lung-SCC samples and generic human GEM 'Recon 2M.2'</li> </ul> <p>All the patient-specific GEMs were generated using a previously developed method (i.e., tINIT algorithm with a rank-based weight function), which is available at <a href="https://bitbucket.org/kaistmbel/recon-manager">https://bitbucket.org/kaistmbel/recon-manager</a>.</p>
Data for publication: A pipeline for in-depth analysis of DNA virus populations by profiling the low abundant virus variants and partial genomic components
<p>Raw and processed sequence data from Oxford Nanopore and BGI short read sequencing platforms used in the publication: "A pipeline for in-depth analysis of DNA virus populations by profiling the low abundant virus variants and partial genomic components".</p>
Fig. 5 in Geometric morphometric analysis of cyclical body shape changes in color pattern variants of Cichla temensis Humboldt, 1821 (Perciformes: Cichlidae) demonstrates reproductive energy allocation
Fig. 5. Relative mean GSI vs. relative mean HSI of color pattern variants of Cichla temensis. Points for GSI represent the mean value for each CPV grade as compared to the range encountered. Points for HSI represent the mean value for each CPV grade compared to the range encountered.
Fig. 3 in Geometric morphometric analysis of cyclical body shape changes in color pattern variants of Cichla temensis Humboldt, 1821 (Perciformes: Cichlidae) demonstrates reproductive energy allocation
Fig. 3. Biplot of the uniform components in each direction (UniX and UniY) of morphometrical differences in 80 specimens of Cichla temensis in 4 color variation patterns (CPV) as measured by 9 Thin Plate Spline (TPS) distortion variables (V1-V9). Colored numbers indicate the CPV grade of individuals. The total spread of scores among individuals of each CPV are indicated by an envelope (solid line polygon) calculated as the minimum convex hull for that group. Position in the plot relative to other individuals indicates the degree of similarity in morph. Vectors point in the direction of gradient change for that TPS variable and the magnitude indicates the strength of the gradient. Angles between vectors indicate the TPS interset correlations.
COJO ARG variants from "Biobank-scale inference of ancestral recombination graphs enables genealogical analysis of complex traits"
<p>These are COJO ARG variants accompanying the manuscript "Biobank-scale inference of ancestral recombination graphs enables genealogical analysis of complex traits". For more details, view the README.md file and refer to our manuscript.</p>
Variant call file for mountain yellow-legged frog (MYLF) selection analysis
Open the record for dataset details and reuse information.
ZENODO TEST: ALE Variant Analysis data and scripts
<p>ALE Variant Analysis data and scripts</p>
Datasets for GTN tutorial on SARS-CoV-2 variant analysis
<p>A reference genome in FASTA format is provided for SARS-CoV-2, "Severe acute respiratory syndrome coronavirus 2 isolate Wuhan-Hu-1, complete genome", having the accession ID of NC_045512.2.</p> <p>This file was obtained from NCBI within this Galaxy history: https://usegalaxy.org/u/dan/h/nc0455122-from-ncbi</p>
Raw data: Association and functional analysis of angiotensin-converting enzyme 2 gene genetic variants with the pathogenesis of pre-eclampsia
<p class="MsoNormal"><span>These data were generated to investigate the association and functional analysis of angiotensin-converting enzyme 2 genetic variants with the pathogenesis of pre-eclampsia(PE). This study conducted a case-control study involving 327 PE patients and 591 healthy pregnant women to explore the associations between candidate variants in the ACE2 gene variants and the pathogenesis of PE.This study collected clinical samples and data, and used logistic regression, false positive report rate, multi factor dimension reduction, functional analysis and other analysis methods to process the research data. </span>Potential functional ACE2 gene variants (rs2106809 A>G, rs6632677 G>C, and rs2074192 C>T) were selected and genotyped using kompetitive allele-specific PCR. The strength of the associations between the studied genetic variants and the risk of PE were evaluated using odds ratios (ORs) and corresponding 95% confidence intervals (CIs).<span> Finally,it showed that the rs2106809 A>Gis significantly associated with the risk of PE via individual locus effects and/or complex gene-gene and gene-environment interactions.</span><span> </span></p>
Exome sequence analysis identifies rare coding variants associated with a machine learning-based marker for coronary artery disease.
<p>*.sh and *.R are codes to test rare coding variants for association with ISCAD.</p> <p>Petrazzini_etal_2024_*_level_meta_analysis.txt.gz are summary statistics of variant- and gene-level associations of rare coding variants in the exome sequences of 604,914 individuals with an in-silico score for coronary artery disease (ISCAD).</p> <p>Chromosomal positions are mapped to the GRCh38 (hg38) human genome reference.</p> <p>Directions of effect correspond to associations in the UK Biobank, the All of Us Research Program, the BioMe Biobank sample 1 and the BioMe Biobank sample 2, in that order.</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.