Article

Accurate and simple FXN-GAA repeats (Friedreich ataxia loci) estimation by long read targeted sequencing

2022-02-24

Abstract excerpt

Friedreich ataxia, an autosomal recessive disorder is caused by tandem GAA nucleotide repeats expansion in intron 1 of the FXN (frataxin gene). The GAA repeats above 66 in length are considered as pathogenic and commonly occurring repeats are 600-1200. Clinically the spectrum of the features is confined mainly to the neurological tissue, however, cardiomyopathy and diabetes mellitus has been observed in 60% and 30...

Topics

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

Identifiers and source

Literature Corpus work: 629609ea-ff7d-55bc-90b2-4f067695c845
DOI: 10.1101/2022.02.24.481841

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Accurate and simple FXN-GAA repeats (Friedreich ataxia loci) estimation by long read targeted sequencingDOI 10.1101/2022.02.24.481841Read

A rapid ONT-based sequencing approach to capture complete Ataxia-Mutomes (AtaxiaMutSeq)Semantic proximity Read

Targeted long-read sequencing as a single assay improves diagnosis of spastic-ataxia disordersSemantic proximity Read

Unrecognized high prevalence of expanded composite repeats in Friedreich ataxia.Semantic proximity Read

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

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

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

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

Multisite Evaluation of an Amplification-based Nanopore Sequencing Solution to Analyze Challenging Clinically Relevant Variants in Genes Associated with Hereditary DiseasesSemantic proximity Read

Long-read sequencing across the C9orf72 ‘GGGGCC’ repeat expansion: implications for clinical use and genetic discovery efforts in human diseaseSemantic proximity Read

Repeat-associated ataxias in a German patient cohort analysed by targeted parallel long-read sequencing.Semantic proximity Read

Parallel in-depth analysis of repeat expansions: an updated Clin-CATS workflow for nanopore R10 flow cellsSemantic proximity Read

A Comprehensive Triple-Repeat Primed PCR and a Long-Range PCR Agarose-Based Assay for Improved Genotyping of Guanine-Adenine-Adenine Repeats in Friedreich Ataxia.Semantic proximity Read