Find research datasets worth reusing
Search datasets from major research repositories and use ShareScore to quickly assess how well each record supports discovery, access, and reuse.
6,234
datasets available to search
ShareScore release 0.9.0
Dataset results
6,234 results for “phenotypes”
Genotype-phenotype associations in CRB1 bi-allelic patients: a novel mutation and a systematic review
<p><span><strong>Purpose</strong>: Searched for novel bi-allelic <em>CRB1</em> mutations, then analyzed the <em>CRB1</em> literature at the genotypic and phenotypic levels from 439 patients worldwide.</span></p> <p><span><strong>Approach</strong>: We screened various variables such as the <em>CRB1</em> mutation types, domains, exons, and genotypes and their relation with specific ocular phenotypes. An emphasis was given for the bi-allelic missense and nonsense mutations because of their high prevalence compared to other mutation types. Finally, we quantified the effect of various non-modifiable factors over the BCVA OU using multivariate linear regression models and identified genetic interactions.</span></p> <p><span><strong>Results</strong>: We first identified a novel bi-allelic missense in the exon 9 of <em>CRB1</em>; c.2936G>A; p.(Gly979Asp) associated with RCD. <em>CRB1</em> mutation type, exons, domains, and genotype distribution vary significantly according to Fundus characteristics, such as peripheral pigmentation and condition, optic disc, vessels, macular, and pigmentation (P<0.05). Of the 154 articles retrieved from PubMed, 96 studies with 439 bi-allelic <em>CRB1</em> patients were included. </span><span>Missense mutations were significantly associated with an absence of macular pigments, pale optic disc, and periphery pigmentation, resulting in a higher risk of RCD (P<0.05). In contrast, homozygous nonsense mutations were associated with macular pigments, periphery pigments, and a high risk of LCA (P<0.05) and increased BCVA OU (best-corrected visual acuity) levels.</span><span> We found that age, mutation types, and inherited retinal diseases were critical determinants of BCVA OU as they significantly increased it by 33%, 26%, and 38%, respectively (P<0.05). Loss of function alleles additively increased the risk of LCA, with nonsense having a more profound effect than indels. Finally, our analysis showed that p.(Cys948Tyr) and p.(Lys801Ter) and p.(Lys801Ter); p.(Cys896Ter) might interact to modify BCVA OU levels. </span></p> <p><span><strong>Conclusion</strong>: This meta-analysis updated the literature and identified genotype-phenotype associations in bi-allelic <em>CRB1</em> patients.</span></p>
Six genome assemblies of Drosophila species for: Identification and genetic analysis of a pervasive "needle-eye" sperm phenotype in Drosophila sterile hybrid males
<p>Interspecies hybrid sterility has been extensively studied, especially in the genus <em>Drosophila</em>. Hybrid sterility is more often found in the heterogametic (XX or ZW) sex, a trend called Haldane's rule. Although this phenomenon is pervasive, identification of a common genetic mechanism remains elusive, with modest support found for a range of potential theories. Here, we identify a single precise morphological phenotype, which we call "needle-eye sperm," that is associated with hybrid sterility in three separate species pairs that span the <em>Drosophila</em> genus. The nature of the phenotype indicates a common point of meiotic failure in sterile hybrid males. We used ten generations of backcross selection paired with whole-genome pooled sequencing to genetically map the regions underlying the needle-eye sperm phenotype. Surprisingly, the sterility phenotype was present in ~50% of males even after ten generations of backcrossing, yet the genetic map showed multiple regions associated with sterility, indicating multiple regions may have the capacity to be sufficient to induce sterility in the F1. Due to the common phenotype among sterile male hybrids and the strong effect of individual loci, further exploration of the genes uncovered here may identify a universal mechanism for the evolution of hybrid sterility. </p>
Supplementary material 1 from: Byerly AR, Jenck C, Goetz ARB, Weissman DB, Gray DA, Ross CL, Maroja LS, Larson EL (2023) Geographic variation in phenotypic divergence between two hybridizing field cricket species. Journal of Orthoptera Research 32(2): 189-200. https://doi.org/10.3897/jor.32.90713
Supplementary material 1 from: Byerly AR, Jenck C, Goetz ARB, Weissman DB, Gray DA, Ross CL, Maroja LS, Larson EL (2023) Geographic variation in phenotypic divergence between two hybridizing field cricket species. Journal of Orthoptera Research 32(2): 189-200. https://doi.org/10.3897/jor.32.90713
Metabolic Phenotyping and Follow-Up of Patients With and Without Diabetes After New Onset of STEMI
ClinicalTrials.gov study NCT05046483. IPD Sharing: Not stated. Countries: 1. Publications: 1.
Prevalence, Phenotypes, Predictors and Prognostic Implication of Obstructive Sleep Apnea in Pulmonary Hypertension
ClinicalTrials.gov study NCT05595200. IPD Sharing: UNDECIDED. Countries: 1. Publications: 4.
Natural History, Genetic Bases and Phenotype-genotype Correlations in Autosomal Dominant Spinocerebellar Degenerations
ClinicalTrials.gov study NCT00136630. IPD Sharing: Not stated. Countries: 1. Publications: 13.
Innovative Approach to Detect Recurrent Colorectal Lesions With Surveillance Via Mutation Analysis & Clinical Phenotype
ClinicalTrials.gov study NCT05929365. IPD Sharing: UNDECIDED. Countries: 1. Publications: 1.
Rare Variation and Remote Gene Regulation of Osteoporosis Related Phenotypes in Han Chinesse
ClinicalTrials.gov study NCT04129671. IPD Sharing: UNDECIDED. Countries: 1. Publications: 2.
Molecular Epidemiology of Lung Adenocarcinoma in Multi-ethnic Asian Phenotype
ClinicalTrials.gov study NCT01774526. IPD Sharing: Not stated. Countries: 1. Publications: 14.
Study of Analgesic Action of Pregabalin, Duloxetine and Tramadol in Patients With Different Neuropathic Pain Phenotypes
ClinicalTrials.gov study NCT06252116. IPD Sharing: NO. Countries: 1. Publications: 2.
USDA Western Human Nutrition Research Center (WHNRC) Cross-Sectional Nutritional Phenotyping Study
ClinicalTrials.gov study NCT02367287. IPD Sharing: Not stated. Countries: 1. Publications: 27.
Utilizing Smart Devices to Identify New Phenotypical Characteristics in Movement Disorders
ClinicalTrials.gov study NCT03638479. IPD Sharing: NO. Countries: 1. Publications: 2.
Study of T Cell Phenotype Activation Pathway in Human Alcoholic Liver Disease
ClinicalTrials.gov study NCT00610597. IPD Sharing: Not stated. Countries: 1. Publications: 1.
Efficacy of Collagen Matrix for Peri-implant Soft Tissue Phenotype Modification
ClinicalTrials.gov study NCT07056959. IPD Sharing: UNDECIDED. Countries: 1. Publications: 3.
Genetic & Environmental Determinants Of Immune Phenotype Variance: A Longitudinal Assessment
ClinicalTrials.gov study NCT05381857. IPD Sharing: Not stated. Countries: 1. Publications: 3.
Influence of the Vitamin D Blood Levels on the Amyotrophic Lateral Sclerosis Phenotype
ClinicalTrials.gov study NCT01823380. IPD Sharing: Not stated. Countries: 1. Publications: 0.
Novel Inflammatory Markers in Different Phenotypes of Severe Asthma
ClinicalTrials.gov study NCT04888910. IPD Sharing: Not stated. Countries: 1. Publications: 3.
Genotype-phenotype Correlation in Junctional Epidermolysis Bullosa
ClinicalTrials.gov study NCT04727268. IPD Sharing: YES. Countries: 1. Publications: 2.
The Role of Morphological Phenotype in ARDS
ClinicalTrials.gov study NCT04157946. IPD Sharing: NO. Countries: 1. Publications: 8.
The APS Phenotyping Study
ClinicalTrials.gov study NCT06521502. IPD Sharing: YES. Countries: 1. Publications: 1.
ScienceDex guides
Understand access before you commit
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.