Automated assembly of high-quality diploid human reference genomes
Erich David Jarvis, Giulio Formenti, Arang Rhie, Andrea Guarracino, Chentao Yang, Jonathan M. D. Wood, Alan Tracey, Françoise Thibaud‐Nissen, Mitchell Robert Vollger, David Porubskỳ, Haoyu Cheng, Mobin Asri, Glennis A. Logsdon, Paolo Carnevali, Mark Chaisson, , Karen H. Miga
The paper evaluates sequencing and assembly methods to create high-quality diploid human genome assemblies, finding that long reads and haplotype sorting improve accuracy and completeness.
Nature · Oct 19, 2022Peer-reviewedGenomics