Litcius/Paper detail

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, Trevor Pesout, Jeshuwin Prabakaran, P. Carnevali, Jianzhi Yang, Arang Rhie, Sonja W. Scholz, Bryan J. Traynor, Karen H. Miga, Miten Jain, Winston Timp, Adam M. Phillippy, Mark Chaisson, Fritz J. Sedlazeck, Cornelis Blauwendraat, Benedict Paten

2023Nature Methods143 citationsDOIOpen Access PDF

Topics & Concepts

IndelNanopore sequencingComputational biology1000 Genomes ProjectDNA sequencingBiologyHaplotypeGenomeStructural variationDeep sequencingComputer scienceScalabilityPipeline (software)Sequence assemblyPopulationReference genomeGeneticsSingle-nucleotide polymorphismGeneGenotypeTranscriptomeDatabaseDemographySociologyProgramming languageGene expressionGenomics and Phylogenetic StudiesRNA modifications and cancerGenomics and Rare Diseases
Scalable Nanopore sequencing of human genomes provides a comprehensive view of haplotype-resolved variation and methylation | Litcius