London Calling 2023: The potential use of nanopore sequencing for routine molecular diagnosis of germline cancer predisposition

Recently, we have started to explore nanopore sequencing using GridION. We are performing technological assessments on 24 clinical germline cancer samples carrying abnormalities on BRCA1, BRCA2, PALB2, and MLH1 to test methylation status, large-scale rearrangements (LSR), and single-nucleotide variants. We have used adaptive sampling to enrich our target region of more than 150 cancer predisposition genes and used R10.4.1 Flow Cells and Q20+ chemistry for this experiment. After setting up the critical pre-analytical processes (DNA extraction and library prep) and optimizing the experimental workflow, the initial results are promising. We have been able to enrich our region of interest and show that  adaptive sampling did not induce any bias in the read depth among the different chromosomes.