Optical genome mapping of structural variants in Parkinson's disease-related induced pluripotent stem cells.

ABSTRACT:

Background

Certain structural variants (SVs) including large-scale genetic copy number variants, as well as copy number-neutral inversions and translocations may not all be resolved by chromosome karyotype studies. The identification of genetic risk factors for Parkinson's disease (PD) has been primarily focused on the gene-disruptive single nucleotide variants. In contrast, larger SVs, which may significantly influence human phenotypes, have been largely underexplored. Optical genomic mapping (OGM) represents a novel approach that offers greater sensitivity and resolution for detecting SVs. In this study, we used induced pluripotent stem cell (iPSC) lines of patients with PD-linked SNCA and PRKN variants as a proof of concept to (i) show the detection of pathogenic SVs in PD with

SUBMITTER: Trinh J 

PROVIDER: S-EPMC11490025 | biostudies-literature | 2024 Oct

REPOSITORIES: biostudies-literature