Danny E. Miller from the University of Washington presented at the Nanopore Community Meeting in Singapore on “The 1000 Genomes Project Oxford Nanopore Sequencing Consortium: expanding our understanding of human genetic variation.” They started by comparing the medical history and testing performed on two patients. Miller shared a linear workflow for traditional genetic workup. Miller’s lab focuses on using long-read sequencing for diagnostics. The advantages of long-read sequencing to identify SNVs, indels, SVs, and methylation can be used to complete genomes and perform phasing. Importantly, long-read sequencing can be used to sequence complex regions of the genome. Miller shared a case of a child with a rare genetic duplication in a long gene. Several examples were shared that helped solve cases through identification of rare variants with long-read sequencing. Miller and team are using long-read sequencing to catalog SVs and human variation from the 1000 Genomes Project. The first 100 samples have been sequenced on R9 flow cells. Graduate students in the lab have designed applications to analyze data from this project. One application is an app to visualize repeats and variants. This session was not the first I have watched from the Miller lab. I have enjoyed learning about the clinical and translational tools and applications the research team has created.
