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Diagnostic uplift through the implementation of short tandem repeat analysis using exome sequencing
To date, approximately 50 short tandem repeat (STR) disorders have been identified; yet, clinical laboratories rarely conduct STR analysis on exomes....
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Short Tandem Repeats Profiling
DNA is the blueprint of life, found in almost every living organism, and working as a set of instructions governing every aspect of the functioning...
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R-LOOPs on Short Tandem Repeat Expansion Disorders in Neurodegenerative Diseases
Expansions of short tandem repeats (STRs) have been found to be present in more than 50 diseases and have a close connection with neurodegenerative...
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Detecting Tandem Repeat Expansions Using Short-Read Sequencing for Clinical Use
Repeat expansion disorders are a unique class of genetic diseases caused by expansions of short tandem repeats. Until recently, these pathogenic...
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Sequence composition changes in short tandem repeats: heterogeneity, detection, mechanisms and clinical implications
Short tandem repeats (STRs) are a class of repetitive elements, composed of tandem arrays of 1–6 base pair sequence motifs, that comprise a...
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Sequencing and characterizing short tandem repeats in the human genome
Short tandem repeats (STRs) are highly polymorphic sequences throughout the human genome that are composed of repeated copies of a 1–6-bp motif. Over...
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Characteristics of tandem repeat inheritance and sympathetic nerve involvement in GAA-FGF14 ataxia
BackgroundIntronic GAA repeat expansion ([GAA] ≥250) in FGF14 is associated with the late-onset neurodegenerative disorder, spinocerebellar ataxia...
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STRAS:a snakemake pipeline for genome-wide short tandem repeats annotation and score
High-throughput whole genome sequencing (WGS) is clinically used in finding single nucleotide variants and small indels. Several bioinformatics tools...
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Short Tandem Repeats in the era of next-generation sequencing: from historical loci to population databases
In this study, we explore the landscape of short tandem repeats (STRs) within the human genome through the lens of evolving technologies to detect...
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Delineation of an inverted tandem Xq23-26.3 duplication in a female featuring extremely short stature and mild mental deficiency
BackgroundPartial duplications involving the long arm of the X chromosome are associated with mental retardation, short stature, microcephaly, and a...
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An update on the neurological short tandem repeat expansion disorders and the emergence of long-read sequencing diagnostics
BackgroundShort tandem repeat (STR) expansion disorders are an important cause of human neurological disease. They have an established role in more...
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Huntington’s disease age at motor onset is modified by the tandem hexamer repeat in TCERG1
Huntington’s disease is caused by an expanded CAG tract in HTT . The length of the CAG tract accounts for over half the variance in age at onset of...
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Genome-wide sequencing as a first-tier screening test for short tandem repeat expansions
BackgroundScreening for short tandem repeat (STR) expansions in next-generation sequencing data can enable diagnosis, optimal clinical...
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RepEnTools: an automated repeat enrichment analysis package for ChIP-seq data reveals hUHRF1 Tandem-Tudor domain enrichment in young repeats
BackgroundRepeat elements (REs) play important roles for cell function in health and disease. However, RE enrichment analysis in short-read...
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DHX9/DNA-tandem repeat-dependent downregulation of ciRNA-Fmn1 in the dorsal horn is required for neuropathic pain
Circular RNAs (ciRNAs) are emerging as new players in the regulation of gene expression. However, how ciRNAs are involved in neuropathic pain is...
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A fast and inexpensive genoty** system for the simultaneous analysis of human and Aedes albopictus short tandem repeats
BackgroundDetermination of the interactions between hematophagous mosquitoes and their human hosts is of great importance for better understanding...
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Identifying unstable CNG repeat loci in the human genome: a heuristic approach and implications for neurological disorders
Tandem nucleotide repeat (TNR) expansions, particularly the CNG nucleotide configuration, are associated with a variety of neurodegenerative...
