Article

Application of a custom NGS Gene Panel revealed a high diagnostic utility for molecular testing of hereditary ataxias.

2021-10-28

Abstract excerpt

<title>Abstract</title> <p>Background Hereditary ataxias (HA) are a rare group of heterogeneous disorders. Here, we present results of molecular testing a group of ataxia patients using custom-designed Next Generation Sequencing (NGS) panel. Due to genetic and clinical overlapping of hereditary ataxias and spastic paraplegias (HSP), designed panel encompassing together HA and HSP genes. Methods The NGS librarie...

Topics

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

Identifiers and source

Literature Corpus work: f9bfd14d-1f61-556f-9c01-701c302ebd86
DOI: 10.21203/rs.3.rs-1020452/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Application of a custom NGS Gene Panel revealed a high diagnostic utility for molecular testing of hereditary ataxias.DOI 10.21203/rs.3.rs-1020452/v1Read

Application of a custom NGS gene panel revealed a high diagnostic utility for molecular testing of hereditary ataxias.Semantic proximity Read

NGS in Hereditary Ataxia: When Rare Becomes Frequent.Semantic proximity Read

Clinical application of next generation sequencing in hereditary spinocerebellar ataxia: increasing the diagnostic yield and broadening the ataxia-spasticity spectrum. A retrospective analysis.Semantic proximity Read

Whole exome sequencing in Serbian patients with hereditary spastic paraplegia.Semantic proximity Read

Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model.Semantic proximity Read

[Ataxias and hereditary spastic paraplegias].Semantic proximity Read

Targeted exome analysis identifies the genetic basis of disease in over 50% of patients with a wide range of ataxia-related phenotypes.Semantic proximity Read

Genetic landscape of hereditary spastic paraplegias in the Korean population.Semantic proximity Read

The impact of next-generation sequencing on the diagnosis of pediatric-onset hereditary spastic paraplegias: new genotype-phenotype correlations for rare HSP-related genes.Semantic proximity Read

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

Targeted next-generation sequencing improves diagnosis of hereditary spastic paraplegia in Chinese patients.Semantic proximity Read

Targeted Next-Generation Sequencing in Rare Diseases.Semantic proximity Read