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62 results for “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>
Data from: Polymorphic tandem repeats shape single-cell gene expression across the immune landscape
<p>This dataset contains the association summary statistics (v0.1) for genome-wide tandem repeat (TR) expression quantitative trait (eQTL) analysis of TenK10K Phase 1 (https://doi.org/10.1101/2024.11.02.621562). </p> <p>Please access the README for a detailed description of file contents. </p> <p> </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>
Tandem repeat catalog of the human genome generated from long-read assemblies
<p>Allele sequences of polymorphic loci (VCF) and README for all version 2 (2.0 + 2.1) files</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>
Borg tandem repeats undergo rapid evolution and are under strong selection to create new intrinsically disordered regions in proteins
<p>This repository contains files that accompany the Schoelmerich <em>et al. </em>(2022) bioRxiv preprint.</p> <p>These files include</p> <p>- all Borg proteins used for protein family clustering (<a href="https://zenodo.org/api/files/f75689a0-d40c-44a6-b154-b74e3594fc04/all_Borg_proteins.fasta">all_Borg_proteins.fasta</a>)</p> <p>- 37 additional aaTR-proteins from manually curated Borg contigs (<a href="https://zenodo.org/api/files/f75689a0-d40c-44a6-b154-b74e3594fc04/37_Borg_aaTR-proteins.fasta?versionId=bfdfe7b6-e3b5-48b8-b7e6-a20304097e7d">37_Borg_aaTR-proteins.fasta</a>)</p> <p>- IQ-TREE of Borg DNA polymerases and reference sequences from doi: 10.1093/nar/gkaa760 (<a href="https://zenodo.org/api/files/f75689a0-d40c-44a6-b154-b74e3594fc04/DNAPolB_iqtree.treefile?versionId=c588a98c-822d-4a2f-a92d-7dcb3b1675f0">DNAPolB_iqtree.treefile</a>)</p> <p>- Borg Sm ribonucleoprotein sequences (<a href="https://zenodo.org/api/files/f75689a0-d40c-44a6-b154-b74e3594fc04/21_Borg_Sm_ribonucleoproteins.fasta">21_Borg_Sm_ribonucleoproteins.fasta</a>)</p> <p>- Borg MHC sequences (<a href="https://zenodo.org/api/files/f75689a0-d40c-44a6-b154-b74e3594fc04/14_Borg_MHC_proteins.fasta">14_Borg_MHC_proteins.fasta</a>)</p> <p>- AlphaFold2 predicted structural models of Borg Sm ribonucleoproteins and MHCs with aaTRs</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>
Human-specific tandem repeat expansion and differential gene expression during primate evolution
<p>THIS DATASET IS PART OF THE FOLLOWING STUDY:<br> <a href="https://www.pnas.org/content/early/2019/10/22/1912175116">https://www.pnas.org/content/early/2019/10/22/1912175116</a></p> <p> </p> <p>THE RAW SEQUENCING 10x GENOMICS READS CAN BE DOWNLOADED FROM SRA:<br> <a href="https://www.ncbi.nlm.nih.gov/bioproject/PRJNA593056">https://www.ncbi.nlm.nih.gov/bioproject/PRJNA593056</a></p> <p><br> ORIGINAL UPLOAD: 09/06/2019</p> <p>UPDATES: 10/28/2019; 01/27/2020</p> <p>DESCRIPTION: Contigs were assembled using Phased-SV (<a href="https://www.nature.com/articles/s41467-018-08148-z">Chaisson et al, Nature Communications 2019</a>) on six human haplotypes (i.e., H0 and H1 in NA19240, HG00514, and HG00733), and six nonhuman haplotypes (this study, H0 and H1 in Clint the chimpanzee, Kamilah the gorilla, and Susie the orangutan). The long read data (PacBio CLR) from NHPs were phased into haplotypes H0 and H1 using linked reads from 10X Genomics prior to assembly, whenever possible. If not possible (e.g., in the case of long runs of homozygosity regions), long reads from both haplotypes were used to generate a "squished assembly". Using human haplotype data, we identified 21,442 polymorphic STRs/VNTRs, followed by a targetted phasing of these regions in the three NHPs. All of the human and nonhuman primate contigs were padded by 2 kbp both upstream and downstream, followed by mapping against the human reference (GRCh38). We did the same for "squished assemblies" from a Yoruban individual, CHM13, and three NHPs as described in <a href="https://science.sciencemag.org/content/360/6393/eaar6343">Kronenberg et al, Science 2018</a>. The BAM and BAI files in this dataset contain the alignment of all these contigs against GRCh38.</p>
TRcompDB v1.0, a global reference of tandem repeat variation
<p>The v-2.1 "vamos" motif sets and the TR annotations using 360 publicly available long-read assemblies (TRCompDB).Data are provided for both GRCh38 and T2T-CHRM13 reference genomes. TR annotations are provided as combined vcf file. “oriMotifs” stands for the full motif set before efficient motif selection. “effMotifs-0.x” stands for the efficient motifs selected under q=0.x.</p>
Project Adotto Tandem-Repeat Regions and Annotations
<p>Collection of inputs and outputs from a project attempting to catalog tandem-repeat regions in Human genomes. Details on the project can be found <a href="https://github.com/ACEnglish/adotto">on the github</a>.</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>
Accurate measurement of microsatellite length by disrupting its tandem repeat structure
<p>Read, first copy, and template tables for microsatellite data pertaining to the manuscript: "Accurate measurement of microsatellite length by disrupting its tandem repeat structure". </p>
CGG, CAG, and GAA: genome-wide comparison of the disease linked Trinucleotide short tandem repeat
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CGG short tandem repeat genotype predictions
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Data from: Length variation in short tandem repeats affects gene expression in natural populations of Arabidopsis thaliana
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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
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Data from: Asexuality associated with marked genomic expansion of tandemly repeated rRNA and histone genes
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International Brain Laboratory public data
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OpenNeuro
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