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Dataset results
62 results for “GENE PANEL”
Targeted Gene Panel Sequencing Data of RELN paper - Meyer Children's Hospital IRCCS
<h3>Dataset description</h3> <p> </p> <p>The dataset has been prepared according the Minimal Information about a high throughput SEQuencing Experiment (MINSEQE) as reported in: <a href="https://doi.org/10.5281/zenodo.5706412">https://doi.org/10.5281/zenodo.5706412</a></p> <p>This dataset includes:</p> <ul> <li>The Targeted Gene Panel Sequencing Raw Data (FASTQ files) from two individuals harbouring RELN variants</li> <li>The ‘final’ processed data, submitted both as VCF and TXT files, and obtained from the ANNOVAR annotations of the two patients</li> </ul> <p>The gene panel list used in the targeted capture and the essential experimental and data processing protocols has been reported in the RELN paper.</p> <h3>Identifiers</h3> <p>The 444D indentifier correspond to <strong>DN1 patient</strong> in the RELN paper.</p> <p>Tissue: peripheral blood sample</p> <p>Sex: female</p> <p>Age at sequencing: 21 years</p> <p>The 528T indentifier correspond to <strong>DN2 patient </strong>in the RELN paper.</p> <p>Tissue: peripheral blood sample</p> <p>Sex: female</p> <p>Age at sequencing: 1.5 years</p>
Pre-fitted Bayesian models for "Gene panel selection for targeted spatial transcriptomics"
<p>simulation_parameters_DARTFISH_slim.rds: Bayesian model fitted on the Zhang dataset.</p> <p>simulation_parameters_MERFISH_slim.rds: Bayesian model fitted on the Moffit dataset.</p> <p>simulation_parameters_osmFISH_slim.rds: Bayesian model fitted on the Codeluppi dataset.</p> <p> </p>
COsegregation of VARiants in Panel of Genes
ClinicalTrials.gov study NCT01689584. IPD Sharing: Not stated. Countries: 4. Publications: 0.
Data from: Identification of genetic defects in 33 probands with Stargardt disease by WES-based bioinformatics gene panel analysis
Stargardt disease (STGD) is the most common hereditary macular degeneration in juveniles, with loss of central vision occurring in the first or second decade of life. The aim of this study is to identify the genetic defects in 33 probands with Stargardt disease. Clinical data and genomic DNA were collected from 33 probands from unrelated families with STGD. Variants in coding genes were initially screened by whole exome sequencing. Candidate variants were selected from all known genes associated with hereditary retinal dystrophy and then confirmed by Sanger sequencing. Putative pathogenic variants were further validated in available family members and controls. Potential pathogenic mutations were identified in 19 of the 33 probands (57.6%). These mutations were all present in ABCA4, but not in the other four STGD-associated genes or in genes responsible for other retinal dystrophies. Of the 19 probands, ABCA4 mutations were homozygous in one proband and compound heterozygous in 18 probands, involving 28 variants (13 novel and 15 known). Analysis of normal controls and available family members in 12 of the 19 families further support the pathogenicity of these variants. Clinical manifestation of all probands met the diagnostic criteria of STGD. This study provides an overview of a genetic basis for STGD in Chinese patients. Mutations in ABCA4 are the most common cause of STGD in this cohort. Genetic defects in approximately 42.4% of STGD patients await identification in future studies.
scPanel: A tool for automatic identification of sparse gene panels for generalizable patient classification using scRNA-seq datasets
<p>Dataset used to reproduce severe COVID-19 prediction results in scPanel manuscript.</p>
Data from: Identification of genetic defects in 33 probands with Stargardt disease by WES-based bioinformatics gene panel analysis
Open the record for dataset details and reuse information.
Single-cell multiomic characterization of erythroid cells (cultured human BEL-A cell line) with a panel of 118 genes and 7 surface markers on the BD Rhapsody platform
GEO Series GSE287830. Homo sapiens. 1 samples. Type: Expression profiling by high throughput sequencing.
Liver gene expression in a panel of laboratory inbred mouse strains
GEO Series GSE14563. Mus musculus. 73 samples. Type: Expression profiling by array.
Identifying genetic loci and spleen gene coexpression networks driving immunophenotypes in the BXD panel
GEO Series GSE19935. Mus musculus. 38 samples. Type: Expression profiling by array.
Gene-expression data for SKH1 mice receiving hindlimb radiation therapy [Neuroinflammation Panel]
GEO Series GSE264126. Mus musculus. 24 samples. Type: Expression profiling by array.
In vivo gene editing of human hematopoietic stem and progenitor cells using envelope-engineered virus-like particles [cell line panel]
GEO Series GSE267496. Homo sapiens. 11 samples. Type: Expression profiling by high throughput sequencing; Third-party reanalysis.
Single cell gene expression profiles for isogenic PTEN panel iPSC-derived cortical organoids
GEO Series GSE214422. Homo sapiens. 12 samples. Type: Expression profiling by high throughput sequencing.
Gene expression in human recurrent glioblastoma before and after inoculation with the oncolytic herpes simplex virus G207 using NanoString pancancer immune profiling gene expression panel
GEO Series GSE164104. Homo sapiens. 10 samples. Type: Other.
Mapping of flumioxazin tolerance in a snap bean diversity panel leads to the discovery of a master genomic region controlling multiple stress resistance genes
GEO Series GSE270416. Phaseolus vulgaris. 46 samples. Type: Expression profiling by high throughput sequencing.
Identification of functional interactions through integration and systems analysis of matched gene and microRNA expression data across the Ludwig-Melbourne Melanoma (LM-MEL) Cell Line Panel
GEO Series GSE89438. Homo sapiens. 57 samples. Type: Non-coding RNA profiling by high throughput sequencing.
Genome-wide methylation approach identifies a novel hypermethylated gene panel in ulcerative colitis
GEO Series GSE81211. Homo sapiens. 12 samples. Type: Methylation profiling by genome tiling array.
Gene expression responses to oxygen challenge in a panel of human brain organoids
GEO Series GSE273907. Homo sapiens. 7 samples. Type: Expression profiling by high throughput sequencing.
Methylation and gene expression patterns in adamantinomatous craniopharyngioma highlight a panel of genes associated with disease progression-free survival
GEO Series GSE294056. Homo sapiens. 30 samples. Type: Expression profiling by high throughput sequencing.
Gene expression analysis of a panel of human fibroblasts that generate an aligned (anisotropic) vs non-aligned extracellular matrix
GEO Series GSE121632. Homo sapiens. 16 samples. Type: Expression profiling by high throughput sequencing.
Gene Expression Networks in the Drosophila Genetic Reference Panel
GEO Series GSE117850. Drosophila melanogaster. 800 samples. Type: Expression profiling by high throughput sequencing.
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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.