Preprint from the 1000 Genomes ONT Sequencing Consortium
The first preprint that analyses data from the 1000 Genomes ONT Sequencing Consortium is out where we analyzed SNVs, genome assembly, structural variation, methylation and repeat expansions.
Using long-read sequencing data from the 1000 Genomes Project can improve our understanding of normal patterns of human variation. The impact of using long-reads, particularly in difficult-to-detect regions of the genome can be immense clinically. As more samples are sequenced, this dataset can be used as a variant prioritization set for the development of different types of clinical applications.
Our work was featured in Genome Web and the Brotman Baty Institute’s newsletter.
— Quarto (@quarto_pub) February 26, 2024
I’m grateful to Dr. Danny Miller for the opportunity to work on this collaborative project as a part of my dissertation work at University of Washington.