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2,880 results for “variant”
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>
Haplotype-phasing of long-read HiFi data to enhance structural variant detection through a Skip-Gram model
<p>Example dataset for DipPAV</p>
Datset related to article "AOPEP variants as a novel cause of recessive dystonia: Generalized dystonia and dystonia-parkinsonism"
<p>Sanger sequences (.abi files) validating variants found with whole exome sequencing</p>
Figure 1 from: Abbey M (2016) Functional characterization of the several splice variants of Fmr1. Research Ideas and Outcomes 2: e10593. https://doi.org/10.3897/rio.2.e10593
Figure 1 - Diagrammatic representation of the exon structure of Fmr1 and its corresponding functional domains. The splice acceptor sites are marked as 1 and 2.
Figure 4 from: Schmitt M, Uhl G (2017) Oulema septentrionis and O. erichsonii are neither conspecific nor melanic variants of O. melanopus as assessed by micro CT analysis of their lectotypes (Insecta, Coleoptera, Chrysomelidae, Criocerinae). In: Chaboo CS, Schmitt M (Eds) Research on Chrysomelidae 7. ZooKeys 720: 121-130. https://doi.org/10.3897/zookeys.720.19760
Figure 4 - Oulema erichsonii , lectotype; a median lobe with flagellum lateral b apex of median lobe with flagellum dorsal c flagellum (not to scale). 3D reconstructed microCT-scans.
Figure 2 from: Schmitt M, Uhl G (2017) Oulema septentrionis and O. erichsonii are neither conspecific nor melanic variants of O. melanopus as assessed by micro CT analysis of their lectotypes (Insecta, Coleoptera, Chrysomelidae, Criocerinae). In: Chaboo CS, Schmitt M (Eds) Research on Chrysomelidae 7. ZooKeys 720: 121-130. https://doi.org/10.3897/zookeys.720.19760
Figure 2 - Oulema septentrionis , lectotype; a: median lobe with flagellum lateral b apex of median lobe with flagellum dorsal; c: flagellum (not to scale). 3D reconstructed microCT-scans.
Figure 3 from: Schmitt M, Uhl G (2017) Oulema septentrionis and O. erichsonii are neither conspecific nor melanic variants of O. melanopus as assessed by micro CT analysis of their lectotypes (Insecta, Coleoptera, Chrysomelidae, Criocerinae). In: Chaboo CS, Schmitt M (Eds) Research on Chrysomelidae 7. ZooKeys 720: 121-130. https://doi.org/10.3897/zookeys.720.19760
Figure 3 - Oulema erichsonii (Suffrian, 1841), lectotype. a dorsal b lateral from left c labels. Scale bars: 1 mm.
Figure 1 from: Schmitt M, Uhl G (2017) Oulema septentrionis and O. erichsonii are neither conspecific nor melanic variants of O. melanopus as assessed by micro CT analysis of their lectotypes (Insecta, Coleoptera, Chrysomelidae, Criocerinae). In: Chaboo CS, Schmitt M (Eds) Research on Chrysomelidae 7. ZooKeys 720: 121-130. https://doi.org/10.3897/zookeys.720.19760
Figure 1 - Oulema septentrionis (Weise, 1880), lectotype. a dorsal b lateral from left c labels. Scale bars: 1 mm.
A joint embedding of protein sequence and structure enables robust variant effect predictions
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Data and code for "SARS-CoV-2 correlates of protection from infection against variants of concern"
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Performance data for 10 DE variants on CEC2014 benchmark suite in 10 dimensions (30 problems)
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Fig. 1. A in A new vesselless angiosperm stem with a cambial variant from the Upper Cretaceous of Antarctica
Fig. 1. A. Location of the new fossil locality in Antarctic Peninsula, James Ross Island (gray). B. Map of James Ross Island at the northern Antarctic Peninsula. C. Map with the Santa Marta Formation outcrops (area shaded in gray) at the northern James Ross Island, showing location of the new fossil locality (asterisk). Modified from Olivero 2012 and Carvalho et al. 2013.
AlphaFold2 Modeling and Molecular Dynamics Simulations of the Conformational Ensembles for the SARS-CoV-2 Spike Omicron JN.1, KP.2 and KP.3 Variants : Mutational Profiling of Binding Energetics Reveals Epistatic Drivers of the ACE2 Affinity and Escape Hotspots of Antibody Resistance
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Fig. 1 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. 1. Configuration of landmarks (red dot within yellow circles) as applied to all color pattern variation (CPV) grades of Cichla temensis. (1) the anterior point of the skull; (2) the anterior edge of the base of the first dorsal spine; (3) the center of the base of the 10 th dorsal spine; (4) the base of the first long ray of the second dorsal fin; (5) the base of the 9 th ray of the second dorsal fin; (6) the posterior point of termination of the second dorsal fin; (7) the posterior base of the anal fin; (8) the base of the 7th anal fin ray; (9) the anterior insertion of the anal fin; (10) the cloaca; (11) the ventral termination of the scale row emanating from the insertion of the 10th dorsal spine; (12) the ventral termination of the scale row emanating from the anterior point of the insertion of the pelvic fin.
Fig. 2 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. 2. Thin-plate-spline deformation grids depicting (a) overall body shape differences between extremes of CPV grades (magnified 3x); (b) the increase in area at the bases of the second dorsal and anal fins between extremes of CPV grades (magnified 3x).
Fig. 4 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. 4. Height to length ratio of color pattern variants of Cichla temensis. The average height/SL ratio increased with CPV grade from a low of 0.2694 for CPV Grade 1 (paca), 0.2725 for CPV Grade 2, 0.2771 for CPV Grade 3 and 0.2822 for CPV Grade 4 (açu).
Precomputed predictions used in "Assessment of variant effect predictors unveils variants difficulty as a critical performance indicator"
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GCTB sparse shrunk LD matrices from 2.8M common variants from the UK Biobank - Part AB
<p>GCTB sparse shrunk LD matrices from 2.8M common variants from the UK Biobank - Part AB</p>
Dataset for the analysis in "Purifying selection on deleterious variants affected by the combination of subgenomes and gene expression in common wheat"
<p>Multiple alignment files including outgroups used for the evolutionary genomics conducted in the research paper, Purifying selection on deleterious variants affected by the combination of subgenomes and gene expression in common wheat. The compressed file size is 164.6 MB and will be 2.98 GB after decompression.</p>
Supplementary Tables for the manuscript be Kuligina et al. "Germline variants in the immune response-related genes: possible modifying effect on age-dependent BRCA1 penetrance in breast cancer patients"
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ScienceDex guides
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These curated guides explain access requirements, typical timelines, costs, and reuse considerations for widely used research datasets.
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.