Scalable Nanopore sequencing of human genomes provides a comprehensive view of haplotype-resolved variation and methylation
Mikhail Kolmogorov, Kimberley J. Billingsley, Mira Mastoras, Melissa Meredith, Jean Monlong, Ryan Lorig-Roach, Mobin Asri, Pilar Álvarez Jerez, Laksh Malik, Ramita Dewan, Xylena Reed, Rylee M. Genner, Kensuke Daida, Sairam Behera, Kishwar Shafin, , Benedict Paten
This paper develops a scalable protocol for Oxford Nanopore long-read sequencing, achieving high SNP and structural variant detection with haplotype-resolved methylation calls, suitable for large-scale genomics projects.
bioRxiv · Jan 12, 2023 · PreprintBioinformatics