Article

Computational and experimental hunt for expansion prone tandem CNG repeats in human genomes

2023-05-03

Abstract excerpt

<h4>Introduction</h4> Spinocerebellar ataxias (SCA) are a group of clinically and genetically heterogeneous neurodegenerative disorders. Tandem repeat expansion is the pathogenic mutation in most of SCA cases. The pathophysiology of SCAs is still not completely defined due to the lack of genetic mutation in around 50% of cases worldwide. These uncharacterized cases must be genetically diagnosed for a better under...

Topics

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

Identifiers and source

Literature Corpus work: ca349d51-3042-5074-8a3d-e3b9fbe18bbb
DOI: 10.1101/2023.05.03.539188

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Computational and experimental hunt for expansion prone tandem CNG repeats in human genomesDOI 10.1101/2023.05.03.539188Read

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

Identification and characterization of repeat expansions in neurological disorders: Methodologies, tools, and strategiesSemantic proximity Read

Abundancy of polymorphic CGG repeats in the human genome suggest a broad involvement in neurological disease.Semantic proximity Read

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

Complete nanopore repeat sequencing of SCA27B (GAA-FGF14 ataxia) in Japanese.Semantic proximity Read

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

Computational Short Tandem Repeat Genotyping Reveals Clinically Relevant Expansions in a Large Turkish Neurodegeneration Disease Cohort.Semantic proximity Read

Profiling human pathogenic repeat expansion regions by synergistic and multi-level impacts on molecular connectionsSemantic proximity Read

Computational Short Tandem Repeat Genotyping Reveals Clinically Relevant Expansions in a large Turkish Neurodegeneration CohortSemantic proximity Read

TRPing up the genome: Tandem repeat polymorphisms as dynamic sources of genetic variability in health and disease.Semantic proximity Read

DRED: A Comprehensive Database of Genes Related to Repeat Expansion DiseasesSemantic proximity Read