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ShareScore release 0.9.0
Dataset results
87 results for “WES”
NEXMIF encephalopathy: DeNovogear output of WES data of the family
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TGFBI case WES variants
<p><strong>Novel mutation</strong> <strong>in<em> </em>the <em>TGFBI</em> gene in a Moroccan family with atypical corneal dystrophy: a case report</strong></p> <p>Data of VCF of three affected members who shared a phenotype of corneal dystrophy in different stages of severity</p> <p> </p>
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.
WES_GWAS
<p>GWAS data analysis </p>
WES proficiency test using Quartet reference materials
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Data from: Identification of genetic defects in 33 probands with Stargardt disease by WES-based bioinformatics gene panel analysis
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WES of the proband with a novel RPGR mutation
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The genome sequencing of Sitopsis species provide insights into its contribution to the B subgenome in Triticum aestivum [WES]
GEO Series GSE197464. Aegilops longissima; Aegilops sharonensis; Aegilops bicornis; Amblyopyrum muticum; Triticum dicoccoides; Aegilops searsii; Aegilops speltoides. 47 samples. Type: Other.
Concurrent loss of the Y chromosome in cancer and T cells impacts outcome [WES]
GEO Series GSE290113. Mus musculus. 2 samples. Type: Other.
Recruitment of ETS1 to activated accessible regions promotes cilia genes transcriptional program in ciliopathy [WES]
GEO Series GSE230552. Homo sapiens. 4 samples. Type: Genome variation profiling by high throughput sequencing.
Multi-omic profiling of lung and liver tumor microenvironments of metastatic pancreatic cancer reveals site-specific immune-regulatory pathways [WES]
GEO Series GSE172105. Mus musculus. 2 samples. Type: Other.
Effect of overexpression of A3B and RNA editing calling in mouse tissues [WES]
GEO Series GSE209722. Mus musculus. 16 samples. Type: Other.
Mutational analysis of HCC827 and HCC827-OR cell lines [HCC827OR_WES]
GEO Series GSE223007. Homo sapiens. 4 samples. Type: Other.
Differential DNA methylation occurs in RUNX1 heterozygous mutations harboring hematopoietic progenitor cells [WES]
GEO Series GSE245770. Homo sapiens. 3 samples. Type: Genome variation profiling by high throughput sequencing.
Y chromosome loss in bladder cancer contributes to T cell exhaustion and sensitivity to immune checkpoint blockade [WES]
GEO Series GSE230819. Mus musculus. 3 samples. Type: Other.
Single-cell reconstitution reveals persistence of clonal heterogeneity in the murine hematopoietic system [WES]
GEO Series GSE174039. Mus musculus. 3 samples. Type: Other.
Dysregulation of protein homeostasis by mutant UBA1 in VEXAS syndrome [WES]
GEO Series GSE294656. Homo sapiens. 2 samples. Type: Other.
Increased chromatin accessibility drives transition to androgen receptor splice variant dependence in castration-resistant prostate cancer [WES]
GEO Series GSE252842. Homo sapiens. 2 samples. Type: Other.
Physiologic expression of Srsf2(P95H) causes myeloid expansion, impaired competitive stem cell function and initiates the myeloproliferative/myelodysplastic syndrome in vivo [WES]
GEO Series GSE99850. Mus musculus. 6 samples. Type: Other.
Mutational analysis of PC9 and PC9-OR cell lines. [JXQ_WES]
GEO Series GSE223005. Homo sapiens. 4 samples. Type: Other.
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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.