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927 results for “genetic study”
Fig. 1 in A preliminary study of genetic structure and relatedness analysis of Nutria (Myocastor coypus) in Upo Wetland
Fig. 1. Maps denoting Upo Wetland where nutrias were collected.
Fig.1 in Preliminary Studies On The Genetic Diversity Of An Endemic And Endangered Species Saussurea Esthonica Baer Ex Rupr. In Latvia
Fig.1 Genetic diversity measures between populations based on retrotransposon markers
Fig.3 in Preliminary Studies On The Genetic Diversity Of An Endemic And Endangered Species Saussurea Esthonica Baer Ex Rupr. In Latvia
Fig.3 Principal coordinate analysis based on retrotransposon analysis
Fig. 5 in Revision of the genus Thinophilus Wahlberg (Diptera: Dolichopodidae) from Singapore and adjacent regions: A long term study with a prudent reconciliation of a genetic to a classic morphological approach
Fig. 5. Thinophilus apicatus sp. nov. Phenology during a 2-year survey (MIP).
Fig. 2 in Revision of the genus Thinophilus Wahlberg (Diptera: Dolichopodidae) from Singapore and adjacent regions: A long term study with a prudent reconciliation of a genetic to a classic morphological approach
Fig. 2. Thinophilus apicatus sp. nov., male habitus.
A 4,302-patient cohort study of association of rare genetic alterations with endocrine disorders
<p><span>Endocrine pathologies including disorders such as diabetes and dysfunctions of endocrine glands, are frequently associated with genetic predisposition. This study investigated the association of endocrine diseases with genetic variants, copy number variations (CNVs), and mutational load of molecular pathways in 4302 patients with 409 ICD-10 diagnoses who underwent DNA testing using next-generation sequencing at the National Medical Research Center for Endocrinology (Moscow) from November 2017 </span><span>till</span><span> January 2024. We analyzed rare protein-altering genetic variants using three control cohorts (gnomAD3, RUSeq healthy, experimental).<span> </span>We identified 143 associated variants for diabetes mellitus and 188 genetic variants across other 18 different ICD-10 groups of diagnoses, including 25% and 30% of previously undescribed variants, respectively. In addition, we investigated the aggregation of genetic variants across individual genes and their functional ensembles (molecular pathways) and identified 105 and 101 associations with ICD-10 diagnoses, respectively. In addition, we identified 35 pathogenic and 91 likely pathogenic CNVs in 925 patients with whole exome sequencing profiles. Among them, 9 and 44 CNVs, respectively, were not previously described. Totally, we found statistically significant associations between CNVs and endocrine pathologies for 168 genes. These results expand our understanding of endocrine disease mechanisms and may indicate new potential therapeutic targets.</span></p>
Data from: Genome-wide association studies across environmental and genetic contexts reveal complex genetic architecture of symbiotic extended phenotypes
<p>A goal of modern biology is to develop the genotype-phenotype (G→P) map, a predictive understanding of how genomic information generates trait variation that forms the basis of both natural and managed communities. As microbiome research advances, however, it has become clear that many of these traits are symbiotic extended phenotypes, being governed by genetic variation encoded not only by the host's own genome, but also by the genomes of myriad cryptic symbionts. Building a reliable G→P map therefore requires accounting for the multitude of interacting genes and even genomes involved in symbiosis. Here we use naturally-occurring genetic variation in 191 strains of the model microbial symbiont <em>Sinorhizobium meliloti</em> paired with two genotypes of the host <em>Medicago truncatula</em> in four genome-wide association studies (GWAS) to determine the genomic architecture of a key symbiotic extended phenotype – partner quality, or the fitness benefit conferred to a host by a particular symbiont genotype, within and across environmental contexts and host genotypes. We define three novel categories of loci in rhizobium genomes that must be accounted for if we want to build a reliable G→P map of partner quality; namely, 1) loci whose identities depend on the environment, 2) those that depend on the host genotype with which rhizobia interact, and 3) universal loci that are likely important in all or most environments.</p> <p><span>IMPORTANCE:</span><strong> </strong>Given the rapid rise of research on how microbiomes can be harnessed to improve host health, understanding the contribution of microbial genetic variation to host phenotypic variation is pressing, and will better enable us to predict the evolution of (and select more precisely for) symbiotic extended phenotypes that impact host health. We uncover extensive context-dependency in both the identity and functions of symbiont loci that control host growth, which makes predicting the genes and pathways important for determining symbiotic outcomes under different conditions more challenging. Despite this context-dependency, we also resolve a core set of universal loci that are likely important in all or most environments, and thus, serve as excellent targets both for genetic engineering and future coevolutionary studies of symbiosis.</p>
Data for: Dissecting the genetic architecture of leaf morphology traits in mungbean (Vigna radiata (L.) Wizcek) using genome‐wide association study
<p><span>Mungbean (<em>Vigna radiata</em> (L) Wizcek) is an important pulse crop, increasingly used as a source of protein, fiber, low fat, carbohydrates, minerals, and bioactive compounds in human diets. Mungbean is a dicot plant with trifoliate leaves. Leaves are central to various plant processes like photosynthesis, light interception, and overall canopy structure. The objectives were to study leaf morphological traits, use image analysis to extract leaf traits from images from the Iowa Mungbean Diversity (IMD) panel, develop a regression model for the prediction of leaflet area, and conduct association mapping for leaf morphological traits. We collected more than 5000 leaf images of the IMD panel consisting of 484 accessions over two years (2020 and 2021) with two replications per experiment. Leaf traits were extracted using image analysis, analyzed, and used for association mapping. Morphological diversity included leaflet type (oval or lobed), leaflet size (small, medium, large), lobed angle (shallow, deep), and vein coloration (green, purple). A regression model was developed to predict each ovate leaflet's area (adjusted R<sup>2</sup> = 0.97; residual standard errors of <= 1.10). The candidate genes <em>Vradi01g07560</em>, <em>Vradi05g01240</em>, <em>Vradi02g05730</em>, and <em>Vradi03g00440</em>, are associated with multiple traits (length, width, perimeter, and area) across the leaflets (left, terminal, and right). These are suitable candidate genes for further investigation in their role in leaf development, growth, and function. Future studies will be needed to correlate the observed traits discussed here with yield or important agronomic traits for use as phenotypic or genotypic markers in marker-aided selection methods for mungbean crop improvement.</span></p>
Supplementary data for "Testing the efficacy of different molecular tools for parasite conservation genetics: a case study using horsehair worms (Phylum Nematomorpha)"
<p>Supplementary data for "Testing the efficacy of different molecular tools for parasite conservation genetics: a case study using horsehair worms (Phylum Nematomorpha)"</p> <p>alignments: alignments used for BEAST ("bayes") and PopArt ("popart"). The "popart" folder also has a traits file per each species.</p> <p>bayesian_plots: TSVs ("tsv") and PDF files ("ogs") generated by BEAST. The "tsv" folder also has the scripts for plotting the results in R.</p> <p>easysfs: scripts, population file and results from the VCF to SFS conversione done by easySFS.</p> <p>fineRADstructure: fineRADstructure input files and output PDF plots ("plots") for <em>C. formosanus</em> ipyrad and Stacks ("stacks") data. </p> <p>logs: logs for ipyrad, ModelTest, PGDspider, PopArt ("popart") and Stacks ("stacks"). The "popart" folder also have the generated networks in a TXT file. The "stacks" folder also has ODS files for calculating the amount of loci per each M/n fixed value.</p> <p>snapclust: STR files used with R for snapclust. Scripts included.</p> <p>stairway_plot: input (blueprint files) and outputs for Stairway Plot 2 analyses. The <em>C. formosanus</em> folder ("chordodes") also has scripts for R plotting.</p> <p>vcfs: VCF and HDF5 files used in this study. Also scripts for filtering/converting data and plotting the PCA with ipyrad (activate python first!) for <em>C. formosanus</em>.</p> <p>"acutogordius" = <em>A. taiwanensis</em><br> "chordodes" = <em>C. formosanus</em><br> "gordius" = <em>G. chiashanus</em></p>
Using inbreeding to test the contribution of non-additive genetic effects to additive genetic variance: A case study in Drosophila serrata
<p>Additive genetic variance, <em>V<sub>A</sub></em>, is the key parameter for predicting adaptive and neutral phenotypic evolution. Changes in demography (e.g., increased close-relative inbreeding) can alter <em>V<sub>A</sub></em>, but how depends on the, typically unknown, gene action and allele frequencies across many loci. For example, <em>V<sub>A</sub></em> increases proportionally with the inbreeding coefficient when allelic effects are additive, but larger (or smaller) increases can occur when allele frequencies are unequal at causal loci with dominance effects. Here, we describe an experimental approach to assess the potential for rare, recessive alleles to inflate <em>V<sub>A</sub></em> under inbreeding. Applying a powerful paired pedigree design in <em>Drosophila serrata</em>, we measured 11 wing traits on half-sibling families bred via either random or sibling mating, differing only in homozygosity (not allele frequency). Despite close inbreeding and substantial power to detect small <em>V<sub>A</sub></em>, we detected no deviation from the expected additive effect of inbreeding on genetic (co)variances. Our results suggest the average dominance coefficient is very small relative to the additive effect, or that allele frequencies are relatively equal at loci affecting wing traits. We outline the further opportunities for this paired pedigree approach to reveal the characteristics of <em>V<sub>A</sub></em>, providing insight into historical selection and future evolutionary potential.</p>
Obuasi case study data: Performance of neutral SNP barcodes to determine genetic diversity and structure of Plasmodium falciparum in Africa
<p>A small number of informative biallelic single nucleotide polymorphisms (SNPs) have been proposed to be an economical method to fast-track the genotyping and relatedness analysis of <em>Plasmodium</em> <em>falciparum</em> in malaria-endemic areas. Whilst used successfully in low-transmission areas where infections are monoclonal and highly related, we present the first study to evaluate the performance of these 24- and 96-SNP molecular barcodes in African countries characterised by moderate-to-high transmission. Using haplotypes generated from the MalariaGEN <em>P. falciparum</em> Community Project version 6 database, 52.3% of infections were multiclonal, generating high frequencies of mixed-allele calls (MACs) per isolate. Both multiclonality and low heterozygosity of SNPs impeded haplotype construction for analyses of relatedness. Although fewer SNPs provided usable data, these SNP barcodes weakly identified genetic differentiation across large geographic distances. However, both minor and major alleles' frequencies were temporally unstable. We conclude that these standardised SNP barcodes are vulnerable to ascertainment bias. While large numbers of SNPs acquired by whole-genome sequencing and computational methods to construct haplotypes present a way forward, these approaches may not be practical or cost-effective for surveillance on large scales in malaria-endemic areas. </p>
Phase I Study of LDK378 in Pediatric, Malignancies With a Genetic Alteration in Anaplastic Lymphoma Kinase (ALK)
ClinicalTrials.gov study NCT01742286. IPD Sharing: NO. Countries: 10. Publications: 2.
A Pilot Study of Genetically Engineered NY-ESO-1 Specific NY-ESO-1ᶜ²⁵⁹T in HLA-A2+ Patients With Synovial Sarcoma
ClinicalTrials.gov study NCT01343043. IPD Sharing: Not stated. Countries: 1. Publications: 3.
A Study of Multiple Doses of Nusinersen (ISIS 396443) Delivered to Infants With Genetically Diagnosed and Presymptomatic Spinal Muscular Atrophy
ClinicalTrials.gov study NCT02386553. IPD Sharing: Not stated. Countries: 7. Publications: 2.
A Study of Risdiplam in Infants With Genetically Diagnosed and Presymptomatic Spinal Muscular Atrophy
ClinicalTrials.gov study NCT03779334. IPD Sharing: YES. Countries: 7. Publications: 1.
Association of Host Genetics With Vaccine Efficacy and Study of Immune Correlates of Risk From a Tetravalent Dengue Vaccine
ClinicalTrials.gov study NCT02827162. IPD Sharing: YES. Countries: 1. Publications: 2.
Autoimmune and Autoinflammatory Genetics Study
ClinicalTrials.gov study NCT06004349. IPD Sharing: YES. Countries: 1. Publications: 2.
Study to Understand the Genetics of the Acute Response to Metformin and Glipizide in Humans
ClinicalTrials.gov study NCT01762046. IPD Sharing: Not stated. Countries: 1. Publications: 3.
A Dose Escalation/Expansion Study of LDK378 in Patients With Tumors Characterized by Genetic Abnormalities in Anaplastic Lymphoma Kinase
ClinicalTrials.gov study NCT01283516. IPD Sharing: UNDECIDED. Countries: 11. Publications: 4.
The Moran AMD Genetic Testing Assessment Study
ClinicalTrials.gov study NCT05265624. IPD Sharing: NO. Countries: 1. Publications: 1.
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.