Find research datasets worth reusing
Search datasets from major research repositories and use ShareScore to quickly assess how well each record supports discovery, access, and reuse.
30
datasets available to search
ShareScore release 0.7.1
Dataset results
30 results for “short tandem repeats”
A comprehensive catalog of exact short tandem repeat regions on autosomes and sex chromosomes of the human genome GRCh38
<p>To obtain a general TR catalog across the human genome, we identified genomic intervals with a stretch of exact repetitions of a DNA motif ranging from 1-6bp on GRCh38 autosomes and sex chromosomes by using STRfinder (v1.0), and each STR region was annotated based on gencode.V38 (https://www.gencodegenes.org/human/release_38.html). To end up, we successfully found 1,233,959 TR intervals, covering 0.783306% (24.2 Mbp) of GRCh38 (https://console.cloud.google.com/storage/browser/_details/genomics-public-data/resources/broad/hg38/v0/Homo_sapiens_assembly38.fasta). </p>
i2QTL HipSci Structural Variant and Short Tandem Repeat Genotypes
<p>Here we provide structural variant and short tandem repeat variant calls from 204 HipSci donors as described in the manuscript Jakubosky et al. "Discovery and quality analysis of a comprehensive set of structural variants and short tandem repeats". </p> <p><a href="https://www.biorxiv.org/content/10.1101/713198v2">https://www.biorxiv.org/content/10.1101/713198v2</a></p> <p>Jakubosky D, Smith EN, D’Antonio M, Bonder MJ, Young Greenwald WW, Matsui H, D’Antonio-Chronowska A, (Hipsci), Stegle O, Montgomery SB, DeBoever C, Frazer KA. Discovery and Quality Analysis of a Comprehensive Set of Structural Variants and Short Tandem Repeats. bioRxiv. January 2019:713198. doi:10.1101/713198.</p> <p> </p>
Short tandem repeat expansions in LRP12 are absent in familial and sporadic amyotrophic lateral sclerosis patients of European ancestry
<p>In patients of Asian ancestry, a heterozygous CGG repeat expansion of >100 units in <i>LRP12</i> is the cause of oculopharyngodistal myopathy type 1 (OPDM1), and has been associated with amyotrophic lateral sclerosis (ALS) when repeat lengths are between 61-100 units, although with unusually long disease duration and without significant upper motor neuron involvement. This study investigated if <i>LRP12</i> CGG tandem repeats were expanded in ALS patients of European ancestry. We screened whole-genome sequencing data from 608 sporadic ALS patients, 35 familial ALS probands, and 4,703 neurologically normal controls for the <i>LRP12</i> CGG expansion using ExpansionHunter v4. All individuals had <i>LRP12 </i>CGG repeat lengths between 3-25 units. Our results suggest that <i>LRP12 </i>CGG repeat expansions may only be present in ALS patients of Asian ancestry with atypical clinical presentations.</p>
A comprehensive catalog of approxiamte short tandem repeat regions on autosomes and sex chromosomes of the human genome GRCh38
<p>To obtain a general TR catalog across the human genome, we identified genomic intervals with a stretch of approximate repetitions of a DNA motif ranging from 1-6bp on GRCh38 autosomes and sex chromosomes by using STRfinder (v1.0), and each STR region was annotated based on gencode.V38 (https://www.gencodegenes.org/human/release_38.html). To end up, we successfully found 1,656,159 TR intervals, covering 1.107653% (34.2 Mbp) of GRCh38 (https://console.cloud.google.com/storage/browser/_details/genomics-public-data/resources/broad/hg38/v0/Homo_sapiens_assembly38.fasta). </p>
Short-Tandem-Repeat (STR) marker set for Eurasian lynx for article: Genetic analysis indicates spatial-dependent patterns of sex-biased dispersal in Eurasian lynx in Finland
<p>Conservation and management of large carnivores requires knowledge of female and male dispersal. Such information is crucial to evaluate the population's status and thus management actions. This knowledge is challenging to obtain, often incomplete and contradictory at times. The size of the target population and the methods applied can bias the results. Also, population history and biological or environmental influences can affect dispersal on different scales within a study area. We have genotyped Eurasian lynx (180 males and 102 females, collected 2003-2017) continuously distributed in southern Finland (~23,000 km<sup>2</sup>) using 21 short tandem repeats (STR) loci and compared statistical genetic tests to infer local and sex-specific dispersal patterns within and across genetic clusters as well as geographic regions. We tested for sex-specific substructure with individual-based Bayesian assignment tests and spatial autocorrelation analyses. Differences between the sexes in genetic differentiation, relatedness, inbreeding, and diversity were analysed using population-based AMOVA, F-statistics, and assignment indices. Our results showed two different genetic clusters that were spatially structured for females but admixed for males. Similarly, spatial autocorrelation and relatedness was significantly higher in females than males. However, we found weaker sex-specific patterns for the Eurasian lynx when the data were separated in three geographical regions than when divided in the two genetic clusters. Overall, our results suggest male-biased dispersal and female philopatry for the Eurasian lynx in Southern Finland. The female genetic structuring increased from west to east within our study area. In addition, detection of male-biased dispersal was dependent on analytical methods utilized, on whether subtle underlying genetic structuring was considered or not, and the choice of population delineation. Conclusively, we suggest using multiple genetic approaches to study sex-biased dispersal in a continuously distributed species in which population delineation is difficult.</p>
Genome-wide meta-analysis of short-tandem repeats for Parkinson's disease risk
<p>Idiopathic Parkinson's disease (PD) is the second most common neurodegenerative disease after Alzheimer's disease and is determined by a combination of genetic and environmental risk factors. The to date largest genome-wide association study (GWAS) on single nucleotide polymorphisms (SNPs) by Nalls at al., 2019, reported 90 SNPs that were independently associated with PD risk. However, common SNPs account only for 16-36% of the total genetic heritability of the disease suggesting that other genetic variants play a role in PD susceptibility. One example of previously understudied genetic variants are short-tandem repeats (STR, also known as microsatellites), i.e., repeating sequence motifs in the human genome of 1-6 nucleotides in length. Thus, in this study, we performed a GWAS on imputed STRs in a large PD case-control dataset (n=4,757), and meta-analyzed these data with those from a previous study of the International PD Genetics Consortium (Bustos et al., 2023) resulting in a total sample size of 43,844 PD cases and controls. Thus, in this study, we performed a GWAS on imputed STRs in a large PD case-control dataset (n=4,757) from the US (the PEG and a GHC-based study) and Denmark (PASIDA).</p>
NASTRA: Accurate analysis of short tandem repeat markers by nanopore sequencing with repeat-structure-aware algorithm
<p><span>Forensic short-tandem repeats (STR) genetic markers are multi-allelic and widely utilized for individual identification, kinship testing, and cell-line authentication. Nanopore sequencing, known for its portability, is emerging as a promising approach for STR typing, facilitating real-time and in-field testing. However, its efficacy is often hampered by sequencing noise. Previous methods rely on alignment-based genotyping, necessitating known alleles, which limits their applicability to unknown alleles. Here, we introduced NASTRA, an innovative allele reference-free tool for precise germline analysis of STR genetic markers. NASTRA incorporates a recursive algorithm to infer repeat structures of allele sequences using only known repeat motifs. Our tests, conducted on 80 individual samples and 8 DNA standards, have demonstrated NASTRA's exceptional 100% accuracy in genotyping nearly all diploid STRs across various multiplex kits and flow cells. It surpasses alignment-based methods in accuracy and speed. In a paternity testing case study, NASTRA accurately identified three relationships among six individuals within an 18-minute sequencing duration. These results underscore NASTRA's ability to perform STR analysis on both NGS and nanopore sequencing platforms, significantly enhancing the utility of nanopore sequencing in relevant applications.</span></p>
CGG short tandem repeat genotype predictions
<p>As expansions of CGG short tandem repeats (STR) are established as the genetic aetiology of many neurodevelopmental disorders, we aimed to elucidate the inheritance patterns and role of CGG STRs in autism-spectrum disorder (ASD). By genotyping 6,063 CGG STR loci in a large cohort of trios and quads with an ASD-affected proband, we determined an unprecedented rate of CGG repeat length deviation across a single generation. While the concept of repeat length being linked to deviation rate was solidified, we demonstrate how shorter STRs display greater degrees of size variation. We observed that CGG STRs did not segregate by Mendelian principles, with a bias against longer repeats, which appeared to magnify as repeat length increased. Through logistic regression, we identified 19 genes that displayed significantly higher rates and degrees of CGG STR expansion within the ASD-affected probands (p < 1 x 10<sup>-5</sup>). This study not only highlights novel repeat expansions that may play a role in ASD but also reinforces the hypothesis that CGG STRs are specifically linked to human cognition.</p>
CGG, CAG, and GAA: genome-wide comparison of the disease linked Trinucleotide short tandem repeat
Open the record for dataset details and reuse information.
CGG short tandem repeat genotype predictions
Open the record for dataset details and reuse information.
Data from: Length variation in short tandem repeats affects gene expression in natural populations of Arabidopsis thaliana
Open the record for dataset details and reuse information.
Short-Tandem-Repeat (STR) marker set for Eurasian lynx for article: Genetic analysis indicates spatial-dependent patterns of sex-biased dispersal in Eurasian lynx in Finland
Open the record for dataset details and reuse information.
Supplementary datasets for: Polymorphic short tandem repeats make widespread contributions to blood and serum traits
Open the record for dataset details and reuse information.
Source data for manuscript "Polygenic burden of short tandem repeat expansions promote risk of Alzheimer's disease"
<p>Included are the source data and scripts used to make all plots for the mansucript "Polygenic burden of short tandem repeat expansions promote risk of Alzheimer's disease"</p>
Data from: Digital fragment analysis of short tandem repeats by high-throughput amplicon sequencing
High-throughput sequencing has been proposed as a method to genotype microsatellites and overcome the four main technical drawbacks of capillary electrophoresis: amplification artifacts, imprecise sizing, length homoplasy, and limited multiplex capability. The objective of this project was to test a high-throughput amplicon sequencing approach to fragment analysis of short tandem repeats and characterize its advantages and disadvantages against traditional capillary electrophoresis. We amplified and sequenced 12 muskrat microsatellite loci from 180 muskrat specimens and analyzed the sequencing data for precision of allele calling, propensity for amplification or sequencing artifacts, and for evidence of length homoplasy. Of the 294 total alleles, we detected by sequencing, only 164 alleles would have been detected by capillary electrophoresis as the remaining 130 alleles (44%) would have been hidden by length homoplasy. The ability to detect a greater number of unique alleles resulted in the ability to resolve greater population genetic structure. The primary advantages of fragment analysis by sequencing are the ability to precisely size fragments, resolve length homoplasy, multiplex many individuals and many loci into a single high-throughput run, and compare data across projects and across laboratories (present and future) with minimal technical calibration. A significant disadvantage of fragment analysis by sequencing is that the method is only practical and cost-effective when performed on batches of several hundred samples with multiple loci. Future work is needed to optimize throughput while minimizing costs and to update existing microsatellite allele calling and analysis programs to accommodate sequence-aware microsatellite data.
Data from: Digital fragment analysis of short tandem repeats by high-throughput amplicon sequencing
Open the record for dataset details and reuse information.
Data from: Forensic efficiency estimate and phylogenetic analysis for Chinese Kyrgyz ethnic group revealed by a panel of 21 short tandem repeats
Open the record for dataset details and reuse information.
A detailed analysis of second and third generation sequencing approaches for accurate length determination of short tandem repeats and homopolymers [TypeI_Illumina]
GEO Series GSE286306. synthetic construct. 53 samples. Type: Other.
DNA polymerase stalling at structured DNA predicts the stability of short tandem repeats
GEO Series GSE144458. synthetic construct. 24 samples. Type: Other.
A detailed analysis of second and third generation sequencing approaches for accurate length determination of short tandem repeats and homopolymers [TypeV_ONT]
GEO Series GSE286310. synthetic construct. 18 samples. Type: Other.
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.