BioinformaticsbioRxivPreprint
Scalable Nanopore sequencing of human genomes provides a comprehensive view of haplotype-resolved variation and methylation
Mikhail Kolmogorov, Kimberley J. Billingsley, Mira Mastoras…·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.
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