Optical genome mapping of structural variants in Parkinsonâ€™s disease-related induced pluripotent stem cells
Structural variants (SVs) include deletions, amplifications, and other large-scale genetic copy number variants that are not resolved by chromosome karyotype studies, as well as copy number-neutral inversions, insertions, and translocations. Identification of genetic risk factors for Parkinson's disease (PD) has to date been primarily limited to the study of single nucleotide variants, which only represent a small fraction of the genetic variation in the human genome.  This study includes OGM data and Nanopore long-read sequencing data from induced pluripotent stem cell (iPSC) lines of patients with SNCA and PRKN variants.