Oxford Nanopore sequencing technology is to be used by a group of researchers led by Evan Eichler, University of Washington and Danny Miller, University of Washington and Seattle Children’s Hospital, to initially sequence 500 of the 1000 Genomes Project samples. Their goal is to gain more scientific insights from the comprehensive genomic dataset and to create a catalogue of structural variation (SV) from a diverse set of individuals. Building on the established 1000 Genomes Project, which produced a broad catalogue of human genomic variation, this project is expected to further our understanding of variation.

Through nanopore sequencing of 500 specifically selected genomes in the first instance, the data will provide crucial information through sequencing long fragments of DNA, on an already well studied cohort of samples. The aim is to make new discoveries by uncovering SVs across the sample set and in doing so, further insights will be gained in forming links between genotype and phenotype when SVs have been implicated. In addition to studying the canonical four bases, sequencing with nanopore will aim to allow the investigation to reach beyond traditional approaches, with methylation and other epigenetic modifications routinely produced without additional sample preparation techniques. Read more here.