Birmingham. September 22, 2024. The UK 100,000 Genomes Project focused on sequencing the whole genomes of rare disease trios. One issue was that not enough relevant information was found. A colleague suggested using Oxford Nanopore for trio sequencing of patients who had been through the 100,000 Genomes Project without success. The challenge was the lack of good interpretation software. After trying others and finding it unhelpful, we came across Geneyx through a local representative. Geneyx supported long reads, and after a demo, we were impressed with its performance, it is actually ‘terrifyingly good’. We paid for more analysis and uploaded numerous trios sequenced with ONT. Geneyx algorithms identified findings that other methods had missed, making a significant impact. It even changed the lives of the first two families we analyzed. In one family, a rare condition called Coffin-Siris syndrome was identified by Geneyx, despite being missed by short-read sequencing. In another family, a rare inherited condition involving polyps in the colon was also detected. Most of the findings from Geneyx turned out to be accurate. In addition, Geneyx offered a copy number module that was better than what we had used before. The software has been upgraded recently, and we are eager to see its enhanced capabilities. It is user-friendly, and our team of clinical scientists and geneticists find it effective for prioritizing variants quickly. It allows for easy sharing and collaboration. Overall, it has been a valuable tool for our project.”