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Localized assembly for long reads enables genome-wide analysis of repetitive regions at single-base resolution in human genomes
BackgroundLong-read sequencing technologies have the potential to overcome the limitations of short reads and provide a comprehensive picture of the...
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STRavinsky STR database and PGTailor PGT tool demonstrate superiority of CHM13-T2T over hg38 and hg19 for STR-based applications
Short-Tandem-Repeats (STRs) have long been studied for possible roles in biological phenomena, and are utilized in multiple applications such as...
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Novel, heterozygous, de novo pathogenic variant (c.4963delA: p.Thr1656Glnfs*42) of the NF1 gene in a Chinese family with neurofibromatosis type 1
Neurofibromatosis type 1 (NF1) presents an autosomal dominant, haploinsufficient, and multisystemic disorder with patches of skin café-au-lait spots,...
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Sex Chromosome Haploty**
Chromosomes X and Y have been true homologues and have evolved differently over the years. The Y chromosome has shrunk to about 60 Mb in size as a...
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RFC1 repeat expansion in Japanese patients with late-onset cerebellar ataxia
Recently, the expansion of an intronic AAGGG repeat in the replication factor C subunit 1 ( RFC1 ) gene was reported to cause cerebellar ataxia,...
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Diagnostics of short tandem repeat expansion variants using massively parallel sequencing and componential tools
Short tandem repeats (STRs) are scattered throughout the human genome. Some STRs, like trinucleotide repeat expansion (TRE) variants,...
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Regulation potential of transcribed simple repeated sequences in develo** neurons
Simple repeated sequences (SRSs), defined as tandem iterations of microsatellite- to satellite-sized DNA units, occupy a substantial part of the...
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Long-read sequencing reveals a 4.4 kb tandem repeat region in the mitogenome of Echinococcus granulosus (sensu stricto) genotype G1
BackgroundEchinococcus tapeworms cause a severe helminthic zoonosis called echinococcosis. The genus comprises various species and genotypes, of...
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Genome sequencing as a generic diagnostic strategy for rare disease
BackgroundTo diagnose the full spectrum of hereditary and congenital diseases, genetic laboratories use many different workflows, ranging from...
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The Distribution Characteristics of Microsatellites in the Transcriptome of Periplaneta americana
To obtain information of Periplaneta americana , we analyzed the distribution characteristics of microsatellite sequences in the P. americana ...
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Map** the landscape of tandem repeat variability by targeted long read single molecule sequencing in familial X-linked intellectual disability
BackgroundThe etiology of more than half of all patients with X-linked intellectual disability remains elusive, despite array-based comparative...
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A complete telomere-to-telomere assembly of the maize genome
A complete telomere-to-telomere (T2T) finished genome has been the long pursuit of genomic research. Through generating deep coverage ultralong...
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M2 macrophages‐derived exosomal microRNA-501-3p promotes the progression of lung cancer via targeting WD repeat domain 82
BackgroundExosomes are known to transmit microRNAs (miRNAs) to affect cancer progression, while the role of M2 macrophages-derived exosomes (M2...
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Short-term changes in ultrasound tomography measures of breast density and treatment-associated endocrine symptoms after tamoxifen therapy
Although breast density decline with tamoxifen therapy is associated with greater therapeutic benefit, limited data suggest that endocrine symptoms...
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Multidimensional fragmentomic profiling of cell-free DNA released from patient-derived organoids
BackgroundFragmentomics, the investigation of fragmentation patterns of cell-free DNA (cfDNA), has emerged as a promising strategy for the early...
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Targeting WD repeat domain 5 enhances chemosensitivity and inhibits proliferation and programmed death-ligand 1 expression in bladder cancer
BackgroundChemotherapy and/or immunotherapy are first-line treatments for advanced muscle-invasive bladder cancer (BCa), but the unsatisfactory...
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Circulating cell-free DNA as a biomarker for diagnosis of Schistosomiasis japonica
BackgroundSchistosomiasis, a neglected tropical disease, remains an important public health problem. Although there are various methods for...
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Efficiency of mitochondrial genes and nuclear Alu elements in detecting human DNA in blood meals of Anopheles stephensi mosquitoes: a time-course study
BackgroundThe time required for PCR detection of DNA in human blood meals in vector mosquitoes may vary, depending on the molecular markers used,...
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Comprehensive analysis of microsatellite polymorphisms in human populations
Microsatellites (MS) are tandem repeats of short units, and have been used for population genetics, individual identification, and medical genetics....
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Microsatellite instability assessment is instrumental for Predictive, Preventive and Personalised Medicine: status quo and outlook
A form of genomic alteration called microsatellite instability (MSI) occurs in a class of tandem repeats (TRs) called microsatellites (MSs) or short...
