Optical genome mapping of structural variants in Parkinson's disease-related induced pluripotent stem cells
Summary
In summary, OGM can detect pathogenic SVs in PD-linked genes as well as reveal genomic abnormalities for iPSCs that were not identified by other techniques, which is supportive for OGM's future use in gene discovery and iPSC line screening. © 2024. The Author(s).
| Authors | Trinh J, Schaake S, Gabbert C, Lüth T, Cowley SA, Fienemann A, Ullrich KK, Klein C, Seibler P |
|---|---|
| Journal | BMC genomics |
| Publication Date | 2024 Oct 19;25(1):980 |
| PubMed | 39425080 |
| PubMed Central | PMC11490025 |
| DOI | 10.1186/s12864-024-10902-1 |