Improved assembly and variant detection of a haploid human genome using single-molecule, high-fidelity long reads

Vollger MR, Logsdon GA, Audano PA, Sulovari A, Porubsky D, Peluso P, Wenger AM, Concepcion GT, Kronenberg ZN, Munson KM, Baker C, Sanders AD, Spierings DCJ, Lansdorp PM, Surti U, Hunkapiller MW, Eichler EE. (2020). Improved assembly and variant detection of a haploid human genome using single-molecule, high-fidelity long reads. Ann Hum Genet Mar;84(2):125-140. doi: 10.1111/ahg.12364. Epub 2019 Nov 11.