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Improved Assembly and Variant Detection of a Haploid Human Genome Using Single-Molecule, High-Fidelity Long Reads.

Mitchell R. Vollger,Glennis A. Logsdon,Peter A. Audano,Arvis Sulovari,David Porubsky,Paul Peluso,Aaron M. Wenger,Gregory T. Concepcion,Zev N. Kronenberg,Katherine M. Munson,Carl Baker,Ashley D. Sanders,Diana C. J. Spierings,Peter M. Lansdorp,Urvashi Surti,Michael W. Hunkapiller,Evan E. Eichler

Annals of Human Genetics（2019）

引用 103|浏览65
关键词
genome assembly,long-read sequencing,segmental duplications,structural variation,tandem repeats
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