Optical genome mapping of structural variants in Parkinson’s disease-related induced pluripotent stem cells
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.
Authors
- Joanne Trinh (ORCID: https://orcid.org/0000-0001-9863-2070)
- Theresa Lüth (ORCID: https://orcid.org/0000-0003-0458-0498)
- Christine Klein (ORCID: https://orcid.org/0000-0003-2102-3431)
- Carolin Gabbert (ORCID: https://orcid.org/0000-0002-2308-9330)
- Susen Schaake (ORCID: https://orcid.org/0009-0006-6021-3069)
- Philip Seibler (ORCID: https://orcid.org/0000-0002-3496-7194)
- Sally A. Cowley (ORCID: https://orcid.org/0000-0003-0297-6675)
- Kristian K Ullrich (ORCID: https://orcid.org/0000-0003-4308-9626)
- André Fienemann (ORCID: https://orcid.org/0009-0004-9594-3673)
Institutions
- University of Oxford (GB)
- Wellcome Centre for Integrative Neuroimaging (GB)
- University Hospital Schleswig-Holstein (DE)
- Max Planck Institute for Evolutionary Biology (DE)
- University of Lübeck (DE)
Publication Details
- Journal
- BMC Genomics
- Published
- 2024-10-19
- DOI
- https://doi.org/10.1186/s12864-024-10902-1
- Citations
- 7
- Primary Topic
- CRISPR and Genetic Engineering
- Type
- article
- Field-Weighted Citation Impact
- 1.64
Funders
- Deutsche Forschungsgemeinschaft
- Universität zu Lübeck