The goal of the 1000 Genomes Project ONT Sequencing Consortium is to perform long-read sequencing of all 1000 Genomes Project samples using Nanopore technology. In collaboration with Oxford Nanopore, we are starting by sequencing 500 of the samples with the long-term goal of sequencing all of the available 3,000+ samples. This dataset will allow us to better understand patterns of human structural variation, identify variation in difficult-to-map regions, and study methylation patterns. Our consortium is open to all. Please e-mail Danny Miller if you are interested in joining the consortium.
Our project kicked off on Thursday, June 30, 2022. Please contact Danny to be added to the Slack group.
We are a collaborative group of researchers from around the world interested in using long-read sequencing to identify missing disease-causing variation and understanding the distribution of structural variants in the population. The project is led by Danny Miller and Evan Eichler, both at the University of Washington.
Long-read sequencing is being performed on the Oxford Nanopore platform. This technology works by measuring changes in current as single-stranded DNA or RNA molecules pass through a protein pore. For the initial stage of the project, we are aiming for average read lengths of 50 kb and 30x-40x coverage of each sample.
Data generated by the 1000G ONT Sequencing Consortium are relased to the public as they are generated, after basecalling and standard QC. Data can be found here.