Article

Short Tandem Repeats of Human Genome Are Intrinsically Unstable in Cultured Cells <i>in vivo</i>

2023-02-13

Abstract excerpt

<h4>ABSTRACT</h4> Short tandem repeats (STRs) are a class of abundant structural or functional elements in the human genome and exhibit a polymorphic nature of repeat length and genetic variation within human populations. Interestingly, STR expansions underlie about 60 neurological disorders. However, “stutter” artifacts or noises render it difficult to investigate the pathogenesis of STR expansions. Here, we sys...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: c302d068-e539-55c5-8a3b-043a4f248a07
DOI: 10.1101/2023.02.12.528158

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Short Tandem Repeats of Human Genome Are Intrinsically Unstable in Cultured Cells <i>in vivo</i>DOI 10.1101/2023.02.12.528158Read

A brief review of short tandem repeat mutation.Semantic proximity Read

Population-scale variability at short tandem repeat loci reveals pathogenicity signatureSemantic proximity Read

Short Tandem Repeats in the era of next-generation sequencing: from historical loci to population databases.Semantic proximity Read

Analysis of Tandem Repeats in Short-Read Sequencing Data: From Genotyping Known Pathogenic Repeats to Discovering Novel Expansions.Semantic proximity Read

Genome-wide Survey of Tandem Repeats by Nanopore Sequencing Shows that Disease-associated Repeats are More Polymorphic in the General PopulationSemantic proximity Read

Triplet repeat length bias and variation in the human transcriptome.Semantic proximity Read

Recent advances in the detection of repeat expansions with short-read next-generation sequencingSemantic proximity Read

Genome-wide survey of tandem repeats by nanopore sequencing shows that disease-associated repeats are more polymorphic in the general populationSemantic proximity Read

A comprehensive tandem repeat catalog of the human genomeSemantic proximity Read

An update on the neurological short tandem repeat expansion disorders and the emergence of long-read sequencing diagnosticsSemantic proximity Read

Expanded complexity of unstable repeat diseases.Semantic proximity Read

Short tandem repeats in human exons: a target for disease mutations.Semantic proximity Read