Long-read sequencing successfully uncovers genetic causes of rare diseases

The cause of rare diseases is increasingly being detected through genome sequencing, which involves reading the entire human DNA by first breaking it into small pieces—short reads. Christian Gilissen, Lisenka Vissers, and colleagues found that a new technique using long reads is even more effective at detecting complex causes. They report that 80–90% of cases were detectable, as stated in The American Journal of Human Genetics.