Justin O’Sullivan from the Liggins Institute at the University of Auckland in New Zealand presented at London 2024. The session’s title was “Establishing a nanopore sequencing facility for acute care in New Zealand.” They spoke about closing the borders during the pandemic. Being an island, they can control entrance and exit from the country more closely. O’Sullivan explained how the people should have a governorship of their DNA. The current problem is that at any given time, there are about 200 children in the neonatal intensive care units. They devised a system for sequencing trios: parents and children. Then, they use 0.5 ml of blood for sequencing. The team had to benchmark precision, recall, and F1 scores against truth sets. The turnaround for the sequencing of trios is approximately ten days. O’Sullivan shared benchmarking data comparing long-read and short-read sequencing results. I appreciate how O’Sullivan ended. They thanked the parents who consented to a new test during extreme stress.
