Article

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

2023-08-21

Abstract excerpt

<h4>Background</h4> PRKN mutations are the most common cause of young onset and autosomal recessive Parkinson’s disease (PD). PRKN is located in FRA6E which is one of the common fragile sites in the human genome, making this region prone to structural variants. However, complex structural variants such as inversions of PRKN are seldom reported, suggesting that there are potentially unrevealed complex pathogenic PR...

Topics

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

Identifiers and source

Literature Corpus work: dac921ac-a00d-5f52-b1c5-60a2072a9534
DOI: 10.1101/2023.08.14.23293948

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Long-read sequencing resolves a complex structural variant in<i>PRKN</i>Parkinson’s diseaseDOI 10.1101/2023.08.14.23293948Read

Long-Read Sequencing Resolves a Complex Structural Variant in PRKN Parkinson's Disease.Semantic proximity Read

Long-read sequencing unravels the complexity of structural variants in<i>PRKN</i>in two individuals with early-onset Parkinson’s diseaseSemantic proximity Read

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

Levodopa-responsive dystonia caused by biallelic PRKN exon inversion invisible to exome sequencingSemantic proximity Read

Analysis of heterozygous <i>PRKN</i> variants and copy number variations in Parkinson’s diseaseSemantic proximity Read

Heterozygous <i>PRKN</i> mutations are common but do not increase the risk of Parkinson’s diseaseSemantic proximity Read

Parkinson’s Families Project: a UK-wide study of early onset and familial Parkinson’s diseaseSemantic proximity Read

Long‐Read Sequencing Unravels the Complexity of Structural Variants in PRKN in Two Individuals with Early‐Onset Parkinson's DiseaseSemantic proximity Read

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

Heterozygous PRKN mutations are common but do not increase the risk of Parkinson's disease.Semantic proximity Read

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

Complementarity of long-read sequencing and optical genome mapping in Parkinson’s diseaseSemantic proximity Read