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Dataset results
13 results for “recurrent variants”
A complete list of filtered variants and gene lists of frequently and recurrently mutated genes in DLBCL, MCL, T-NHL, and BL, as well as pre-assembled CNV gene list
<p>A complete list of variants which passed filtering described in supplemental methods, that were found in both PDX model sample and patient’s sample from which it was derived (S1A) and variants which were gained (S1B) or lost (S1C) during PDX model derivation. Gene lists for filtration of variants in genes of special interest are included in the table (S1D). Gene list for filtration of CNV changes in genes of special interest is included in the table (S1E). Chr - Chromosome, REF - Reference allele, ALT - Alternative allele, AA change - Amino acid change, Patient AF - Allele frequency in the patient’s sample, Patient Depth – Read depth in patient’s sample, PDX AF- Allele frequency in PDX model sample, PDX Depth - Read depth in PDX sample, DLBCL - Diffuse Large B-cell lymphoma, MCL - Mantle Cell Lymphoma, TCL - T-cell lymphoma, BL – Burkitt Lymphoma, and CNV - Copy Number Variation.</p>
Recurrent, founder and hypomorphic variants contribute to shaping the genetic landscape of Joubert syndrome
<p><strong>Introduction: </strong>This database includes the raw data linked with the paper “Recurrent, founder and hypomorphic variants contribute to the genetic landscape of Joubert syndrome”. In this paper we reported eleven recurrent variants in seven distinct JS genes occurring in our large European JS cohort, including a previously unreported variant in KIAA0586 (c.1006C>T).</p> <p><strong>Methods</strong>: We evaluated the frequencies of these variants in our cohort of >500 European JS patients and compared them with controls (from three large Italian non-JS cohorts and from the gnomAD database), and with an independent cohort of about 600 JS probands from the United States.</p> <p><strong>Results: </strong>All variants were markedly enriched in the European JS cohort compared to all controls. When comparing allele frequencies in the two JS cohorts, the Ashkenazi Jewish founder variant (TMEM216 c.218G>T) was significantly enriched in American JS compared to European JS patients, while the MKS1 c.1476T>G variant was about ten times more frequent among European JS. Frequencies of all remaining variants were comparable in the two cohorts. Genotyping of several microsatellite markers across the gene loci in carriers of seven variants identified four novel founder haplotypes. Of note, MKS1 c.1476T>G was consistently detected in compound heterozygosity with deleterious variants in JS patients, while it was found in homozygosity in an unaffected parent. Functional studies on fibroblasts from this healthy carrier and her affected son showed a similarly reduced percentage of ciliated cells compared to unaffected controls, but much shorter cilia in the patient than in the unaffected homozygous parent, consistent with a hypomorphic effect.</p>
Abnormal cytoskeletal remodeling but normal neuronal excitability in a mouse model of the recurrent developmental and epileptic encephalopathy-susceptibility KCNB1-p.R312H variant
Open the record for dataset details and reuse information.
A complete list of filtered variants and gene lists of frequently and recurrently mutated genes in 25 MCL patients at diagnosis compared to relapse, as well as a CNV genelist
<p>Supplemental Table 1 shows a complete list of variants which passed filtering described in supplemental methods, that were found in both diagnostic samples and relapsed samples (i.e., shared variants, sheet 1A), variants that were newly detected – N/D (sheet 1B) or newly undetected – N/U (sheet 1C). Gene lists for filtration of variants and CNV changes in genes of special interest are included in the table (sheet 1D). Chr - Chromosome, REF - Reference allele, ALT - Alternative allele, AA change - Amino acid change, DG_AF – Variant Allele frequency in the diagnostic sample, DG_Depth - Read depth in the diagnostic sample, REL_AF - Variant Allele frequency in the relapsed sample, REL_Depth - Read depth in the relapsed sample, SNV - Single Nucleotide Variant, and CNV - Copy Number Variation. </p>
Recurrent de novo variants in the spliceosomal factor CRNKL1 cause severe microcephaly and pontocerebellar hypoplasia with seizures [HeLa]
GEO Series GSE294227. Homo sapiens. 4 samples. Type: Expression profiling by high throughput sequencing.
Integrated PET/MRI and Germline Variants to Differentiate Brain Tumopr Recurrence From Iatrogenicchanges in Children
ClinicalTrials.gov study NCT06226519. IPD Sharing: Not stated. Countries: 1. Publications: 0.
Androgen receptor splice variant expression and prostate cancer recurrence after salvage therapy
GEO Series GSE268636. Homo sapiens. 56 samples. Type: Expression profiling by high throughput sequencing.
Variants in ZFX Cause an X-linked Neurodevelopmental Disorder with Recurrent Facial Gestalt
GEO Series GSE218688. Homo sapiens. 18 samples. Type: Expression profiling by high throughput sequencing.
Recurrent de novo variants in the spliceosomal factor CRNKL1 cause severe microcephaly and pontocerebellar hypoplasia with seizures
GEO Series GSE294226. Danio rerio. 6 samples. Type: Expression profiling by high throughput sequencing.
A 3'-UTR KRAS-variant is associated with cisplatin resistance in patients with recurrent and/or metastatic head and neck squamous cell carcinoma.
GEO Series GSE36110. Homo sapiens. 19 samples. Type: Expression profiling by array.
Variants in ZFX Cause an X-linked Neurodevelopmental Disorder with Recurrent Facial Gestalt
GEO Series GSE218689. Homo sapiens. 8 samples. Type: Genome binding/occupancy profiling by high throughput sequencing.
Variants in ZFX Cause an X-linked Neurodevelopmental Disorder with Recurrent Facial Gestalt
GEO Series GSE218691. Homo sapiens. 26 samples. Type: Expression profiling by high throughput sequencing; Genome binding/occupancy profiling by high throughput sequencing.
dataset related to article: "Spastic paraplegia type 46: novel and recurrent GBA2 gene variants in a compound heterozygous Italian patient with spastic ataxia phenotype"
<p>Dataset contains Genetic data in VCF format of an Italian patient with spastic ataxia phenotype</p>
ScienceDex guides
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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.