Long-read sequencing in human genetics

Sanger sequencing revolutionized molecular genetics 40 years ago. However, next-generation sequencing technologies became further game changers and shaped our current view on genome structure and function in health and disease. Although still at the very beginning, third-generation sequencing methods, also referred to as long-read sequencing technologies, provide exciting possibilities for studying structural variations, epigenetic modifications, or repetitive elements and complex regions of the genome. We discuss the advantages and pitfalls of current long-read sequencing methods with a focus on nanopore sequencing, summarize respective applications and provide an outlook on the potential of these novel methods.