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291 results for “genetic variants”
Coordinates of genetic variants used for QTL mapping
<p>Column names</p> <ol> <li>chr - chromosome name</li> <li>pos - position</li> <li>snp_id - variant id</li> <li>ref - reference allele</li> <li>alt - alternate allele</li> <li>type - variant type (SNP or INDEL)</li> <li>AC - alternate allele count</li> <li>AN - total allele count</li> </ol>
Human genetic variants and age are the strongest predictors of humoral immune responses to common pathogens and vaccines
<p>Online Supplementary Dataset of the manuscript "Human genetic variants and age are the strongest predictors of humoral immune responses to common pathogens and vaccines"</p>
Recurrent, founder and hypomorphic variants contribute to shaping the genetic landscape of Joubert syndrome
<p><strong>Introduction: </strong>This database includes the raw data linked with the paper “Recurrent, founder and hypomorphic variants contribute to the genetic landscape of Joubert syndrome”. In this paper we reported eleven recurrent variants in seven distinct JS genes occurring in our large European JS cohort, including a previously unreported variant in KIAA0586 (c.1006C>T).</p> <p><strong>Methods</strong>: We evaluated the frequencies of these variants in our cohort of >500 European JS patients and compared them with controls (from three large Italian non-JS cohorts and from the gnomAD database), and with an independent cohort of about 600 JS probands from the United States.</p> <p><strong>Results: </strong>All variants were markedly enriched in the European JS cohort compared to all controls. When comparing allele frequencies in the two JS cohorts, the Ashkenazi Jewish founder variant (TMEM216 c.218G>T) was significantly enriched in American JS compared to European JS patients, while the MKS1 c.1476T>G variant was about ten times more frequent among European JS. Frequencies of all remaining variants were comparable in the two cohorts. Genotyping of several microsatellite markers across the gene loci in carriers of seven variants identified four novel founder haplotypes. Of note, MKS1 c.1476T>G was consistently detected in compound heterozygosity with deleterious variants in JS patients, while it was found in homozygosity in an unaffected parent. Functional studies on fibroblasts from this healthy carrier and her affected son showed a similarly reduced percentage of ciliated cells compared to unaffected controls, but much shorter cilia in the patient than in the unaffected homozygous parent, consistent with a hypomorphic effect.</p>
Data set: genetic variants related to SARS-CoV-2 viremia
<p>Data set generated to evaluate the association between SNPs from genes related to SARS-CoV-2 pathogenesis and the presence of viremia.</p>
High-Dose Isoniazid Among Adult Patients With Different Genetic Variants of INH-Resistant Tuberculosis (TB)
ClinicalTrials.gov study NCT01936831. IPD Sharing: Not stated. Countries: 2. Publications: 3.
Functional Genetic Variants Affecting Tacrolimus Trough Levels and Side Effects in Chinese Renal Transplantation.
ClinicalTrials.gov study NCT03083769. IPD Sharing: NO. Countries: 1. Publications: 2.
Exploratory Study of Danicamtiv in Patients With Primary Dilated Cardiomyopathy (DCM) Due to Genetic Variants or Other Causalities
ClinicalTrials.gov study NCT04572893. IPD Sharing: Not stated. Countries: 4. Publications: 1.
Data for: Genetic variants underlying human bisexual behavior are reproductively advantageous
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Genetic variants beyond amyloid and tau associated cognitive decline: a cohort study
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Identification of genetic variants associated with anterior cruciate ligament rupture and AKC standard coat color in the Labrador Retriever
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Raw data: Association and functional analysis of angiotensin-converting enzyme 2 gene genetic variants with the pathogenesis of pre-eclampsia
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Data from: Genetic variants and clinical indicators used to build nomogram model
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Data from: Genetic variants in HLA-DQA1/DQB1 genes modulate the risk of gestational diabetes mellitus in a southern Chinese population
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Amplicon sequencing data for genetic variants at the ASIP locus that determine grey and black fur of the brushtail possum
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Raw data for the association of genetic variants of ErbB4 gene and gestational diabetes mellitus
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Data from: Association and function analysis of genetic variants and the risk of gestational diabetes mellitus in a southern Chinese population
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A sensory and motor neuropathy caused by a genetic variant of NAMPT
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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
Predicting the geographic spread of wildlife epidemics requires knowledge about the movement patterns of disease hosts or vectors. The field of landscape genetics provides valuable approaches to study dispersal indirectly, which in turn may be used to understand patterns of disease spread. Here, we applied landscape genetic analyses and spatially explicit models to identify the potential path of raccoon rabies spread in a mesocarnivore community. We used relatedness estimates derived from microsatellite genotypes of raccoons and striped skunks to investigate their dispersal patterns in a heterogeneous landscape composed predominantly of agricultural, forested and residential areas. Samples were collected in an area covering 22 000 km2 in southern Québec, where the raccoon rabies variant (RRV) was first detected in 2006. Multiple regressions on distance matrices revealed that genetic distance among male raccoons was strictly a function of geographic distance, while dispersal in female raccoons was significantly reduced by the presence of agricultural fields. In skunks, our results suggested that dispersal is increased in edge habitats between fields and forest fragments in both males and females. Resistance modelling allowed us to identify likely dispersal corridors used by these two rabies hosts, which may prove especially helpful for surveillance and control (e.g. oral vaccination) activities.
Data from: Genome-wide exon-capture approach identifies genetic variants of Norway spruce genes associated with susceptibility to Heterobasidion parviporum infection
Root and butt rot caused by members of the Heterobasidion annosum species complex is the most economically important disease of conifer trees in boreal forests. Wood decay in the infected trees dramatically decreases their value and causes considerable losses to forest owners. Trees vary in their susceptibility to Heterobasidion infection, but the genetic determinants underlying the variation in the susceptibility are not well-understood. We performed the identification of Norway spruce genes associated with the resistance to Heterobasidion parviporum infection using genome-wide exon-capture approach. Sixty-four clonal Norway spruce lines were phenotyped, and their responses to H. parviporum inoculation were determined by lesion length measurements. Afterwards, the spruce lines were genotyped by targeted resequencing and identification of genetic variants (SNPs). Genome-wide association analysis identified 10 SNPs located within 8 genes as significantly associated with the larger necrotic lesions in response to H. parviporum inoculation. The genetic variants identified in our analysis are potential marker candidates for future screening programs aiming at the differentiation of disease-susceptible and resistant trees.
The impact of genetic variants in the CYP2C8 gene on bladder cancer susceptibility 1 Short Title:Genetic variants on bladder cancer
<p>Four SNPs including rs1934953, rs1934951, rs2275620, and rs17110453 in the CYP2C8 gene were selected and determined in 550 healthy subjects and 217 bladder cancer patients. SNPs genotyping was determined using Agena MassARRAY iPLEX platform.</p>
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Allen Brain Atlas
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DANDI Archive for NWB datasets
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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.