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Dataset results
129 results for “structural variants”
Regulatory and structural variants in the CLCN2 gene are associated with modified skin colour pattern phenotypes in the corn snake.
GEO Series GSE273807. Pantherophis guttatus. 7 samples. Type: Expression profiling by high throughput sequencing.
Development, Cryo-EM structure and function of potent monospecific and bispecific monoclonal antibodies that neutralize SARS-CoV-2 and variant B.1.351
GEO Series GSE174635. Mus musculus. 4 samples. Type: Expression profiling by high throughput sequencing.
Post-zygotic structural variants in histologically normal breast tissue may predispose to sporadic breast cancer [SET 8]
GEO Series GSE64726. Homo sapiens. 100 samples. Type: Genome variation profiling by SNP array; SNP genotyping by SNP array.
Post-zygotic structural variants in histologically normal breast tissue may predispose to sporadic breast cancer [SET 7]
GEO Series GSE64725. Homo sapiens. 100 samples. Type: Genome variation profiling by SNP array; SNP genotyping by SNP array.
10XG CRAM files for "Characterization of large-scale structural variants using Linked-Reads" (Part 2 of 2)
<p>Here we propose novel algorithms to characterize large (>40 Kbp) interspersed segmental duplications, (> 80 Kbp) inversions, (> 100 Kbp) deletions, and (> 100 Kbp) translocations using Linked-Read sequencing data. Linked-Read sequencing provides long range information, where Illumina reads are tagged with barcodes that can be used to assign short reads to pools of larger (30-50 Kbp) molecules.</p> <p><br> Our methods rely on split molecule sequence signature that we have previously described. Similar to the split read, split molecules refer to large segments of DNA that span an SV breakpoint. Therefore, when mapped to the reference genome, the mapping of these segments would be discontinuous.</p> <p><br> We redesign our earlier algorithm, VALOR, to specifically leverage Linked-Read sequencing data to discover large <br> structural variation. We implement our new algorithms in a new software package, called VALOR2. </p>
Structural variants in the HXB/BXH recombinant inbred panel
<p>Whole genome lined-read sequencing data of the HXB/BXH recombinant inbred panel was mapped using Longranger. Structural variants were merged using SURVIVOR.</p>
A joint embedding of protein sequence and structure enables robust variant effect predictions
<p>Data related to the GitHub repository KULL-Centre/_2023_Blaabjerg_SSEmb, which is also stored on Zenodo here: <span><span><a href="../doi/10.5281/zenodo.13765792" target="_blank" rel="noopener noreferrer">https://zenodo.org/doi/10.5281/zenodo.13765792</a>.</span></span></p>
A collection of read depth profiles at structural variant breakpoints
<p><strong>SWaveform is a newly created open genome-wide resource for read depth signal in the vicinity of structural variant (SV) breakpoints aims to boost development of computational tools and new algorithms for discovery of genomic rearrangement events from long- or short read sequencing data. SVs encompassing insertions, deletions, duplications, inversions and translocations are a dominant force shaping genomes and substantially contributing to genetic diversity. Still, there are challenges in reliable and efficient genotyping of SVs from whole genome sequencing data, thus delaying translation into clinical applications, and wasting valuable resources. SWaveform includes a database containing ~15M of read depth profiles at SV breakpoints extracted from 911 sequencing samples generated by the Human Genome Diversity Project, generalised patterns of the signal at breakpoints and an interface to navigate and download the data. The data set can be of immense value to bioinformatics and engineering communities as it empowers smooth application of intelligent signal processing and machine learning techniques for discovery of genomic rearrangement events and thus opens the floodgates for development of innovative algorithms and software.</strong></p>
Search for Structural Variants in Patients With DSD and Inconclusive Molecular Diagnosis
ClinicalTrials.gov study NCT05867979. IPD Sharing: NO. Countries: 1. Publications: 0.
Post-zygotic structural variants in histologically normal breast tissue may predispose to sporadic breast cancer [SET 1]
GEO Series GSE64719. Homo sapiens. 21 samples. Type: Genome variation profiling by SNP array; SNP genotyping by SNP array.
Ascl5 variant disrupts gene expression in developing mandibular teeth and dental arch structures
GEO Series GSE279607. Mus musculus. 4 samples. Type: Expression profiling by high throughput sequencing.
Copy number (SNP) analysis from leukemic patients with complex structural variants
GEO Series GSE124330. Homo sapiens. 10 samples. Type: Genome variation profiling by SNP array; Genome variation profiling by genome tiling array.
Post-zygotic structural variants in histologically normal breast tissue may predispose to sporadic breast cancer [SET 2]
GEO Series GSE64720. Homo sapiens. 100 samples. Type: Genome variation profiling by SNP array; SNP genotyping by SNP array.
Polymer Physics Predicts the Effects of Structural Variants on Chromatin Architecture (human)
GEO Series GSE92290. Homo sapiens. 4 samples. Type: Other.
Post-zygotic structural variants in histologically normal breast tissue may predispose to sporadic breast cancer [SET 13]
GEO Series GSE64731. Homo sapiens. 92 samples. Type: Genome variation profiling by SNP array; SNP genotyping by SNP array.
Post-zygotic structural variants in histologically normal breast tissue may predispose to sporadic breast cancer [SET 12]
GEO Series GSE64730. Homo sapiens. 38 samples. Type: Genome variation profiling by SNP array; SNP genotyping by SNP array.
Post-zygotic structural variants in histologically normal breast tissue may predispose to sporadic breast cancer.
GEO Series GSE64732. Homo sapiens. 1403 samples. Type: Genome variation profiling by SNP array; SNP genotyping by SNP array.
I536T variant of RBM20 affects splicing of cardiac structural proteins that are causative for developing dilated cardiomyopathy
GEO Series GSE201018. Mus musculus. 3 samples. Type: Expression profiling by high throughput sequencing.
Regulatory and structural variants in the CLCN2 gene are associated with modified skin colour pattern phenotypes in the corn snake
GEO Series GSE273631. Pantherophis guttatus. 2 samples. Type: Expression profiling by high throughput sequencing.
Loss of an oligodendrocyte specific silencer element provides a framework to assess the pathogenic impact of lamin B1 structural variants
GEO Series GSE238093. Homo sapiens; Mus musculus. 7 samples. Type: Genome binding/occupancy profiling by high throughput sequencing.
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.