Oxford Nanopore long-read sequencing with CRISPR/Cas9-mediated target selection for accurate characterization of copy number variants in the LDLR gene
Nanopore LRS with CRISPR/Cas9-mediated target selection allows for accurate characterization of CNVs and can therefore serve as a complementary method to short-read sequencing-based FH diagnostics by facilitating variant interpretation and enabling cost-effective PCR-based variant confirmation in subsequent familial analyses.
Authors
- Loisa Dana Bonde
- Agnieszka Gach (ORCID: https://orcid.org/0000-0002-6590-5797)
- Dariush Skowronek
- Robin A. Pilz
- Ute Felbor
- Ole J. Schamuhn
- Tadeusz Kałużewski (ORCID: https://orcid.org/0000-0001-6118-696X)
- Matthias Rath (ORCID: https://orcid.org/0000-0002-7834-4650)
- Elisabeth Steinhagen–Thiessen
- Raila Busch
Institutions
- Universitätsmedizin Greifswald (DE)
- Universität Greifswald (DE)
- Polish Mother’s Memorial Hospital Research Institute (PL)
- Charité - Universitätsmedizin Berlin (DE)
Publication Details
- Journal
- European Journal of Medical Genetics
- Published
- 2025-02-22
- DOI
- https://doi.org/10.1016/j.ejmg.2025.105003
- Primary Topic
- Lipoproteins and Cardiovascular Health
- Type
- article
- Field-Weighted Citation Impact
- 0.00