Article

Complementarity of long-read sequencing and optical genome mapping in Parkinson’s disease

2025-08-21

Abstract excerpt

<h4>Background</h4> With third-generation long-read sequencing (LRS) platforms and optical genome mapping technologies (OGM), the ability to detect large and complex structural variants (SVs) is rapidly advancing. This has led to the discovery of novel pathogenic variants, such as large deletions and insertions, in neurodegenerative movement disorders. Thus, we aimed to systematically examine the applicability of...

Topics

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

Identifiers and source

Literature Corpus work: 9e53d37b-7a50-5b13-b0e2-d6659d9cee29
DOI: 10.1101/2025.08.20.25333965

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Complementarity of long-read sequencing and optical genome mapping in Parkinson’s diseaseDOI 10.1101/2025.08.20.25333965Read

Genome-wide analysis of Structural Variants in Parkinson’s Disease using Short-Read Sequencing dataSemantic proximity Read

The Utility of Long-Read Sequencing in Diagnosing Genetic Autosomal Recessive Parkinson’s Disease: a genetic screening studySemantic proximity Read

Deciphering Neurodegenerative Diseases Using Long-Read SequencingSemantic proximity Read

Optical genome mapping of structural variants in Parkinson’s disease-related induced pluripotent stem cellsSemantic proximity Read

High-depth whole-genome sequencing identifies structure variants, copy number variants and short tandem repeats associated with Parkinson’s diseaseSemantic proximity Read

Global Parkinson’s Genetics Program (GP2) Monogenic Network Protocol: Elucidating causative gene variants in hereditary Parkinson’s diseaseSemantic proximity Read

Advancing long-read nanopore genome assembly and accurate variant calling for rare disease detectionSemantic proximity Read

Repeat expansions in Parkinson’s disease and parkinsonism across ancestries: insights from a global genetic cohortSemantic proximity Read

Long-read sequencing resolves a complex structural variant in<i>PRKN</i>Parkinson’s diseaseSemantic proximity Read

Targeted long-read sequencing resolves complex structural variants and identifies missing disease-causing variantsSemantic proximity Read

NanoRanger enables rapid single-base-pair resolution of genomic disordersSemantic proximity Read

High-coverage nanopore sequencing of samples from the 1000 Genomes Project to build a comprehensive catalog of human genetic variation.Semantic proximity Read