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Dataset results
227 results for “Clinical Genetics”
Clinical and genetic findings in an Italian cohort of individuals with congenital cataract
<p>List of variants and associated clinical phenotypes identified in a cohort of individuals affected by congenital cataract (syndromic and non-syndromic forms) that have been submitted to the public ClinVar repository (https://www.ncbi.nlm.nih.gov/clinvar/) with their corresponding accession numbers.</p>
Genetic variants regulating the immune response improve the prediction of COVID-19 severity provided by clinical variables
<p>Data set generated to evaluate the association between SNPs from genes related to SARS-CoV-2 pathogenesis and their clinical outcome.</p>
Comprehensive clinical and genetic analyses of circulating bile acids and their associations with diabetes and its indices
<p>Files containing source data for "Comprehensive clinical and genetic analyses of circulating bile acids and their associations with diabetes and its indices," by Choucair et al., published in <em>Diabetes</em>.</p>
Identification of genetic variants associated with clinical features of sickle cell disease
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Genetic Causes and Clinical Features of Childhood Interstitial Lung Diseases in China
ClinicalTrials.gov study NCT03869515. IPD Sharing: YES. Countries: 1. Publications: 5.
Exploring the Impact of Genetic Variations on The Clinical Efficacy of Nalbuphine in Postoperative Pain Management
ClinicalTrials.gov study NCT06996561. IPD Sharing: YES. Countries: 1. Publications: 1.
Study to Develop a Reliable Nomogram That Incorporates Clinical and Genetic Information
ClinicalTrials.gov study NCT00401414. IPD Sharing: Not stated. Countries: 1. Publications: 10.
Genetic modifiers of somatic expansion and clinical phenotypes in Huntington’s disease reveal shared and tissue-specific effects
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Data from: Genetic variants and clinical indicators used to build nomogram model
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Clinical and genomic evaluation of 207 genetic myopathies in the Indian subcontinent
Objective <p>Inherited myopathies comprise more than 200 different individually rare disease-subtypes but when combined together have a high prevalence of 1 in 6000 individuals across the world. Our goal was to determine for the first time the clinical- and gene-variant spectrum of genetic myopathies in a substantial cohort study of the Indian subcontinent.</p> Methods <p>In this cohort-study, we performed the first large clinical exome sequencing (ES) study with phenotype correlation on 207 clinically well-characterized inherited myopathy-suspected patients from the Indian subcontinent with diverse ethnicities.</p> Results <p>Clinical-correlation driven definitive molecular diagnosis was established in 49% (101 cases; 95% CI, 42%-56%) of patients with the major contributing pathogenicity in either of three genes, <i>GNE </i>(28%; GNE-myopathy), <i>DYSF </i>(25%; Dysferlinopathy) and <i>CAPN3 </i>(19%; Calpainopathy). We identified 65 variant alleles comprising 37 unique variants in these three major genes. 78% of the <i>DYSF</i> patients were homozygous for the detected pathogenic variant suggesting the need for carrier-testing for autosomal-recessive disorders like Dysferlinopathy that are common in India. We describe the observed clinical spectrum of myopathies including uncommon and rare subtypes in India: Sarcoglycanopathies (<i>SGCA/B/D/G</i>), Collagenopathy (<i>COL6A1/2/3</i>), Anoctaminopathy (<i>ANO5</i>), telethoninopathy (<i>TCAP</i>), Pompe-disease (<i>GAA</i>), Myoadenylate-deaminase-deficiency-myopathy (<i>AMPD1</i>), myotilinopathy (<i>MYOT</i>), laminopathy (<i>LMNA</i>), HSP40-proteinopathy (<i>DNAJB6</i>), Emery-Dreifuss-muscular-dystrophy (<i>EMD</i>), Filaminopathy (<i>FLNC</i>), TRIM32-proteinopathy (<i>TRIM32</i>), POMT1-proteinopathy (<i>POMT1</i>), and Merosin-deficiency-congenital-muscular-dystrophy-type-1 (<i>LAMA2</i>). 13 Patients harbored pathogenic variants in >1 gene and had unusual clinical features suggesting a possible role of synergistic-heterozygosity / digenic-contribution to disease presentation and progression.</p> Conclusions <p>Application of clinically-correlated ES to myopathy diagnosis has improved our understanding of the clinical and genetic spectrum of different subtypes and their overlaps in Indian patients. This, in turn, will enhance the global gene-variant-disease databases by including data from developing countries/continents for more efficient clinically-driven molecular diagnostics.</p>
Clinical, biochemical and genetic findings in adult patients with low bone mineral density and chronic hypophosphatasemia
<p>Clinical, biochemical and genetic findings in adult patients with low bone mineral density and chronic hypophosphatasemia</p>
Data for: Genetic prevalence and clinical relevance of canine Mendelian disease variants in over one million dogs
<p><span>Hundreds of genetic variants implicated in Mendelian disease have been characterized in dogs and commercial screening is being offered for most of them worldwide. There is typically limited information available regarding the broader population frequency of variants and uncertainty regarding their functional and clinical impact in ancestry backgrounds beyond the discovery breed. Genetic panel screening of disease variants, commercially offered directly to the consumer or via a veterinary clinician, provides an opportunity to establish large-scale cohorts with phenotype data available to address open questions related to variant prevalence and relevance. We screened the largest canine cohort examined in a single study to date (1,054,293 representative dogs from our existing cohort of 3.5 million; a total of 811,628 mixed breed dogs and 242,665 purebreds from more than 150 countries) to examine the prevalence and distribution of a total of 250 genetic disease-associated variants in the general population. Electronic medical records from veterinary clinics were available for 43.5% of the genotyped dogs, enabling the clinical impact of variants to be investigated. We provide detailed frequencies for all tested variants across breeds and find that 57% of dogs carry at least one copy of a studied Mendelian disease-associated variant. Focusing on a subset of variants, we provide evidence of full penetrance for 10 variants, and at minimum plausible evidence for clinical significance of 22 variants, on diverse breed backgrounds. Specifically, we report that inherited hypocatalasia is a notable oral health condition, confirm that factor VII deficiency presents as subclinical bleeding propensity and verify two genetic causes of reduced leg length. We further assess genome-wide heterozygosity levels in over 100 breeds and show that a reduction in genome-wide heterozygosity is associated with an increased Mendelian disease load. The accumulated knowledge represents a resource to guide discussions on genetic test relevance by breed.</span></p>
A New Clinic-Genetic Risk Score for Predicting Venous Thromboembolic Events in Cancer Patient
ClinicalTrials.gov study NCT03114618. IPD Sharing: UNDECIDED. Countries: 1. Publications: 4.
Genetic Drivers,Risk Factors and Management Strategies on Survival and Clinical Outcomes in Visceral Venous "Thrombosis"
ClinicalTrials.gov study NCT07329725. IPD Sharing: Not stated. Countries: 1. Publications: 2.
Genetic Testing or Clinical Assessment in Determining the Need for Chemotherapy in Women With Breast Cancer That Involves No More Than 3 Lymph Nodes
ClinicalTrials.gov study NCT00433589. IPD Sharing: Not stated. Countries: 1. Publications: 11.
INFLACOR - Clinical and Genetic Predictors of Inflammation Related Complications After Heart Surgery
ClinicalTrials.gov study NCT01020409. IPD Sharing: YES. Countries: 1. Publications: 17.
Clinical and Genetic Study of Familial Sarcoidosis (SARCFAM)
ClinicalTrials.gov study NCT02829853. IPD Sharing: Not stated. Countries: 1. Publications: 1.
Cohorts and Collections: Clinical and Genetic Study of Parkinson's Disease and Epilepsies
ClinicalTrials.gov study NCT00142363. IPD Sharing: Not stated. Countries: 1. Publications: 6.
STudy to Assess Rapid Disease Progression by Clinical and Genetic Factors In Glaucoma patientS That Are High Risk
ClinicalTrials.gov study NCT01442896. IPD Sharing: Not stated. Countries: 1. Publications: 4.
Ataxia GAA-FGF14 - Descriptive Genetic and Clinical Study
ClinicalTrials.gov study NCT05884086. IPD Sharing: Not stated. Countries: 1. Publications: 1.
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Allen Brain Atlas
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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.