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A common flanking variant is associated with enhanced stability of the FGF14-SCA27B repeat locus
The factors driving or preventing pathological expansion of tandem repeats remain largely unknown. Here, we assessed the FGF14 (GAA)·(TTC) repeat...
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Genetic characteristics of spouse selection based on short tandem repeats in DNA and lunula count on fingertip
ObjectiveThe aim of this study was to assess the correlation of spouse selection with s hort tandem repeats (STRs) in DNA and with the number of...
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REViewer: haplotype-resolved visualization of read alignments in and around tandem repeats
BackgroundExpansions of short tandem repeats are the cause of many neurogenetic disorders including familial amyotrophic lateral sclerosis,...
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Unexpected diagnosis of myotonic dystrophy type 2 repeat expansion by genome sequencing
Several neurological disorders, such as myotonic dystrophy are caused by expansions of short tandem repeats (STRs) which can be difficult to detect...
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Long-Read Sequencing and Analysis of Variable Number Tandem Repeats
Tandem repeats are among the most dynamic regions of the genome and a major source of human biological variation; however, tandem repeats larger than...
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A summary-statistics-based approach to examine the role of serotonin transporter promoter tandem repeat polymorphism in psychiatric phenotypes
In genetic studies of psychiatric disorders in the pre-genome-wide association study (GWAS) era, one of the most commonly studied loci is the...
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Teleost genomic repeat landscapes in light of diversification rates and ecology
Repetitive DNA make up a considerable fraction of most eukaryotic genomes. In fish, transposable element (TE) activity has coincided with rapid...
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A GGC-repeat expansion in ZFHX3 encoding polyglycine causes spinocerebellar ataxia type 4 and impairs autophagy
Despite linkage to chromosome 16q in 1996, the mutation causing spinocerebellar ataxia type 4 (SCA4), a late-onset sensory and cerebellar ataxia,...
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Systematic analysis of short tandem repeats in 38,095 exomes provides an additional diagnostic yield
PurposeExpansions of a subset of short tandem repeats (STRs) have been implicated in approximately 30 different human genetic disorders. Despite...
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Advances on the Mechanisms and Therapeutic Strategies in Non-coding CGG Repeat Expansion Diseases
Non-coding CGG repeat expansions within the 5′ untranslated region are implicated in a range of neurological disorders, including fragile...
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RFGR: Repeat Finder for Complete and Assembled Whole Genomes and NGS Reads
Repetitive DNA sequences cause genomic instability and are important genetic markers. Identification of repeats is a critical step in genome...
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Lineage-specific protein repeat expansions and contractions reveal malleable regions of immune genes
Functional diversification, a higher evolutionary rate, and intense positive selection help a limited number of immune genes interact with many...
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Short tandem repeat near hypoxia response element (HRE) instead of HRE genetic variants in promoter calcitonin receptor-like receptor (CRLR) gene as risk factor in severe preeclampsia: a preliminary study
ObjectiveCalcitonin receptor-like receptor (CRLR) regulates vasoconstriction and dilatation; the expression increases during hypoxia via activation...
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Repeat length of C9orf72-associated glycine–alanine polypeptides affects their toxicity
G 4 C 2 hexanucleotide repeat expansions in a non-coding region of the C9orf72 gene are the most common cause of familial amyotrophic lateral sclerosis...
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Rapid and comprehensive diagnostic method for repeat expansion diseases using nanopore sequencing
We developed a diagnostic method for repeat expansion diseases using a long-read sequencer to improve currently available, low throughput diagnostic...
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A large pedigree study confirmed the CGG repeat expansion of RILPL1 Is associated with oculopharyngodistal myopathy
BackgroundOculopharyngodistal myopathy (OPDM) is an autosomal dominant adult-onset degenerative muscle disorder characterized by ptosis,...
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Profiling human pathogenic repeat expansion regions by synergistic and multi-level impacts on molecular connections
Whilst DNA repeat expansions cause numerous heritable human disorders, their origins and underlying pathological mechanisms are often unclear. We...
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Large-scale pedigree analysis highlights rapidly mutating Y-chromosomal short tandem repeats for differentiating patrilineal relatives and predicting their degrees of consanguinity
Rapidly mutating Y-chromosomal short tandem repeats (RM Y-STRs) were suggested for differentiating patrilineally related men as relevant in forensic...
