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
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