Understanding the mechanism behind human diseases with an established heritable component is the next frontier in personalized medicine. Furthermore, understanding how these mechanisms may vary across ethnicities is crucial for accurate genetic risk prediction in the clinic. To respond to these challenges, we have embarked on multiple projects focusing to fully utilize long read sequencing for speed and accuracy to obtain deeper insights into different adult diseases. In my talk I will review our recent advancements from rapid sequencing where we are currently holding the world record in the most rapid sequencing and diagnosis of humans. This impacted so far ~20 individual life’s with lifesaving diagnostics based on whole genome sequencing within hours. This is only enabled by advancements in method development that improves our resolution and turnaround time across complex regions of the genome. These methodologies allow us to obtain a comprehensive and timely picture of our genome variation at scale to facilitate deeper insights into human disease and potentially also other species and related phenotypes.