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 .