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Genome Biology|June 5, 2019
Haplotype-aware diplotyping from noisy long readsJana Ebler, Marina Haukness, Trevor Pesout, et al.Nature Methods|November 2, 2021
Haplotype-aware variant calling with PEPPER-Margin-DeepVariant enables high accuracy in nanopore long-readsKishwar Shafin, Trevor Pesout, Pi-Chuan Chang, et al.Nature Methods|September 14, 2023
Scalable Nanopore sequencing of human genomes provides a comprehensive view of haplotype-resolved variation and methylationMikhail Kolmogorov, Kimberley J Billingsley, Mira Mastoras, et al.Biorxiv : the Preprint Server for Biology|January 30, 2023
Scalable Nanopore sequencing of human genomes provides a comprehensive view of haplotype-resolved variation and methylationMikhail Kolmogorov, Kimberley J Billingsley, Mira Mastoras, et al.Nature Biotechnology|July 21, 2020
Nanopore sequencing and the Shasta toolkit enable efficient de novo assembly of eleven human genomesKishwar Shafin, Trevor Pesout, Ryan Lorig-Roach, et al.Nature Biotechnology|March 29, 2022
Accelerated identification of disease-causing variants with ultra-rapid nanopore genome sequencingSneha D Goenka, John E Gorzynski, Kishwar Shafin, et al.Cell Genomics|June 20, 2022
PrecisionFDA Truth Challenge V2: Calling variants from short and long reads in difficult-to-map regionsNathan D Olson, Justin Wagner, Jennifer McDaniel, et al.Nature|October 19, 2022
Semi-automated assembly of high-quality diploid human reference genomesErich D Jarvis, Giulio Formenti, Arang Rhie, et al.Nature|April 29, 2021
Towards complete and error-free genome assemblies of all vertebrate speciesArang Rhie, Shane A McCarthy, Olivier Fedrigo, et al.Pageof 1