Whole genome sequencing (WGS) is not necessarily a solution for someone with a rare, monogenic disease. Indeed, more than half of families with suspected rare monogenic diseases do not have an answer after WGS when short-read sequencing is performed. Now, a group of researchers present data that suggests that long-read sequencing may be the better road to go down for these people. The more comprehensive dataset can find variation, eliminate the need for multiple specialized tests, and streamline the diagnosis of rare diseases.
This work is published in The American Journal of Human Genetics, in an article titled, “Advancing long-read nanopore genome assembly and accurate variant calling for rare disease detection.” The findings suggest that long-read sequencing has the potential to improve the rate of…