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291
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Dataset results
291 results for “genetic variant”
Effect of PNPLA3, TM6SF2 and MBOAT7 Genetic Variants on Non-alcoholic Fatty Liver Disease Therapeutic Outcome.
ClinicalTrials.gov study NCT04640324. IPD Sharing: YES. Countries: 1. Publications: 23.
Diastolic Dysfunction in Septic Shock and Cardiomyopathy Genetic Variants
ClinicalTrials.gov study NCT05552521. IPD Sharing: NO. Countries: 1. Publications: 5.
Pharmacogenomics of Contraception: Genetic Variants and Etonogestrel Pharmacokinetics
ClinicalTrials.gov study NCT03092037. IPD Sharing: NO. Countries: 1. Publications: 7.
Effect of Genetic Variants on Fat-soluble Vitamin Bioavailability
ClinicalTrials.gov study NCT02100774. IPD Sharing: Not stated. Countries: 1. Publications: 6.
Association Between Genetic Variant Scores and Warfarin Effect
ClinicalTrials.gov study NCT03894878. IPD Sharing: NO. Countries: 1. Publications: 11.
Data from: A study on genetic variants of Fibroblast Growth Factor Receptor 2 (FGFR2) and the risk of breast cancer from North India
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Genetic diversity and spread dynamics of SARS-CoV-2 variants present in African populations
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Data from: Geographic distribution and adaptive significance of genomic structural variants: an anthropological genetics perspective
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Data from: Modelling the dispersal of the two main hosts of the raccoon rabies variant in heterogeneous environments with landscape genetics
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Data for: Genetic prevalence and clinical relevance of canine Mendelian disease variants in over one million dogs
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Data from: Genome-wide exon-capture approach identifies genetic variants of Norway spruce genes associated with susceptibility to Heterobasidion parviporum infection
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Five genetic variants explain over 70% of hair coat pheomelanin intensity variation in purebred and mixed breed domestic dogs - Supporting information
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Association of common genetic variants with brain microbleeds: A genome-wide association study
<p><strong>Objective:</strong> To identify common genetic variants associated with the presence of brain microbleeds (BMB).</p> <p><strong>Methods:</strong> We performed genome-wide association studies in 11 population-based cohort studies and 3 case-control or case-only stroke cohorts. Genotypes were imputed to the Haplotype Reference Consortium or 1000 Genomes reference panel. BMB were rated on susceptibility-weighted or T2*-weighted gradient echo magnetic resonance imaging sequences, and further classified as lobar, or mixed (including strictly deep and infratentorial, possibly with lobar BMB). In a subset, we assessed the effects of <em>APOE</em> ε2 and ε4 alleles on BMB counts. We also related previously identified cerebral small vessel disease variants to BMB.</p> <p><strong>Results: </strong>BMB were detected in 3,556 of the 25,862 participants, of which 2,179 were strictly lobar and 1,293 mixed. One locus in the <em>APOE</em> region reached genome-wide significance for its association with BMB (lead SNP rs769449; OR<sub>any BMB</sub> (95% CI)=1.33 (1.21-1.45); p=2.5x10-10). <em>APOE</em> ε4 alleles were associated with strictly lobar (OR (95% CI)=1.34 (1.19- 1.50); p=1.0x10-6) but not with mixed BMB counts (OR (95% CI)=1.04 (0.86-1.25); p=0.68). <em>APOE</em> ε2 alleles did not show associations with BMB counts. Variants previously related to deep intracerebral hemorrhage and lacunar stroke, and a risk score of cerebral white matter hyperintensity variants, were associated with BMB.</p> <p><strong>Conclusions: </strong>Genetic variants in the <em>APOE</em> region are associated with the presence of BMB, most likely due to the <em>APOE</em> ε4 allele count related to a higher number of strictly lobar BMB. Genetic predisposition to small vessel disease confers risk of BMB, indicating genetic overlap with other cerebral small vessel disease markers.</p>
Data from: Admixture and the organization of genetic diversity in a butterfly species complex revealed through common and rare genetic variants
Detailed information about the geographic distribution of genetic and genomic variation is necessary to better understand the organization and structure of biological diversity. In particular, spatial isolation within species and hybridization between them can blur species boundaries and create evolutionary relationships that are inconsistent with a strictly bifurcating tree model. Here we analyze genome-wide DNA sequence and genetic ancestry variation in Lycaeides butterflies to quantify the effects of admixture and spatial isolation on how biological diversity is organized in this group. We document geographically widespread and pervasive historic admixture, with more restricted recent hybridization. This includes evidence supporting previously known and unknown instances of admixture. The genome composition of admixed individuals varies much more among than within populations, and tree- and genetic ancestry-based analyses indicate that multiple distinct admixed lineages or populations exist. We find that most genetic variants in Lycaeides are rare (minor allele frequency < 0.5%). Because the spatial and taxonomic distributions of alleles reflect demographic and selective processes since mutation, rare alleles, which are presumably younger than common alleles, were spatially and taxonomically restricted compared to common variants. Thus, we show patterns of genetic variation in this group are multifaceted, and we argue that this complexity challenges simplistic notions concerning the organization of biological diversity into discrete, easily delineated, and hierarchically structured entities.
Genetic epidemiology of blood type, disease and trait variants, and genome-wide genetic diversity in over 11,000 domestic cats
<p><span>In the largest DNA-based study of domestic cat to date, 11,036 individuals (10,419 pedigreed cats from 91 breeds and breed types and 617 non-pedigreed cats) were genotyped via commercial panel testing, </span><span>elucidating the distribution and frequency of known genetic variants associated with blood type, disease and physical traits across cat breeds. </span><span>Blood group determining variants, which are relevant clinically and in cat breeding, were genotyped to assess the across breed distribution of blood types A, B and AB.</span> <span>Extensive panel testing identified 13 disease-associated variants in 48 breeds or breed types for which the variant had not previously been observed, strengthening the argument for panel testing across populations. The study also indicates that multiple breed clubs have effectively used DNA testing to reduce disease-associated genetic variants within certain pedigreed cat populations. Appearance-associated genetic variation in all cats is also discussed. Additionally, we combined genotypic data with phenotype information and clinical documentation</span><span>, actively conducted owner and veterinarian interviews, and recruited cats for clinical examination</span><span> to investigate the causality of a number of</span><span> tested variants across different breed backgrounds</span><span>. Lastly, genome-wide informative SNP heterozygosity levels were calculated to obtain a comparable measure of the genetic diversity in different cat breeds.</span></p> <p><span>This study represents the first comprehensive exploration of informative Mendelian variants in felines by screening over 10,000 domestic cats. The results qualitatively contribute to the understanding of feline variant heritage and genetic diversity and demonstrate the clinical utility and importance of such information in supporting breeding programs and the research community. The work also highlights the crucial commitment of pedigreed cat breeders and registries in supporting the establishment of large genomic databases that when combined with phenotype information can advance scientific understanding and provide insights that can be applied to improve the health and welfare of cats.</span></p>
Human genetic variants with dbSNP and pseudoDB
<p>Human genetic variants with dbSNP and pseudoDB</p>
Sheep genetic variants with dbSNP and pseudoDB
<p>Sheep genetic variants with dbSNP and pseudoDB</p>
Contribution of genetic variants to the susceptibility of infection by Severe Acute Respiratory Syndrome to CoV-2 in a population of individuals residing in Ecuador
<p>The file presents, in the table, the genotype and alleles obtained from each subject participating in the laboratory phase that are discriminated by groups (control and case groups).<br> The allelic frequencies calculated in the Microsoft Excel program are also presented.</p>
Randomized Study of Yohimbine Treatment for Type 2 Diabetes Patients Carrying a Specific Genetic Risk Variant
ClinicalTrials.gov study NCT01593215. IPD Sharing: Not stated. Countries: 1. Publications: 0.
A Study to Assess if BIIB122 Tablets Are Safe and Can Slow Worsening of Early-Stage Parkinson's Disease in Participants With Specific LRRK2 Genetic Variants Between the Ages of 30 and 80 Using the Mov
ClinicalTrials.gov study NCT05418673. IPD Sharing: YES. Countries: 6. 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.