Long-range PCR and Nanopore sequencing for localisation and phasing variants: an end-to-end clinical application workflow
This study establishes a reliable and affordable clinical diagnostic workflow for accurate phasing of variants separated by up to ~ 20 kb and for variant localisation in genomic regions not able to be sequenced by short-read sequencing. This integrated approach enables implementation in diagnostic settings to resolve complex genetic findings and improve variant interpretation. The bioinformatic pipeline and documentation are available at https://github.com/j-jamshidi/ONT_amp_phase .
Authors
- Tony Roscioli (ORCID: https://orcid.org/0000-0003-1502-5000)
- Javad Jamshidi (ORCID: https://orcid.org/0000-0002-6607-418X)
- Franki Hart
- Ying Zhu (ORCID: https://orcid.org/0000-0003-1061-5087)
- Futao Zhang
- Michael Buckley
- Conor Rowntree (ORCID: https://orcid.org/0009-0007-3938-4354)
- Shannon Fadaee
Institutions
- The University of Sydney (AU)
- New South Wales Department of Health (AU)
- UNSW Sydney (AU)
- Prince of Wales Hospital (AU)
- Neuroscience Research Australia (AU)
Publication Details
- Journal
- BMC Medical Genomics
- Published
- 2025-11-19
- DOI
- https://doi.org/10.1186/s12920-025-02251-z
- Citations
- 1
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 1.82
Funders
- University of New South Wales