Article
Improved assembly and variant detection of a haploid human genome using single-molecule, high-fidelity long reads.
Annals of human genetics - 1 Mar 2020
Vollger Mitchell R, Logsdon Glennis A, Audano Peter A, Sulovari Arvis, Porubsky David, Peluso Paul, Wenger Aaron M, Concepcion Gregory T, Kronenberg Zev N, Munson Katherine M, Baker Carl, Sanders Ashley D, Spierings Diana C J, Lansdorp Peter M, Surti Urvashi, Hunkapiller Michael W, Eichler Evan E
Abstract excerpt
The sequence and assembly of human genomes using long-read sequencing technologies has revolutionized our understanding of structural variation and genome organization. We compared the accuracy, continuity, and gene annotation of genome assemblies generated from either high-fidelity (HiFi) or continuous long-read (CLR) datasets from the same complete hydatidiform mole human genome. We find that the HiFi sequence...
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