TY - JOUR T1 - High-Quality Assembly of an Individual of Yoruban Descent JF - bioRxiv DO - 10.1101/067447 SP - 067447 AU - Karyn Meltz Steinberg AU - Tina Graves Lindsay AU - Valerie A. Schneider AU - Mark J.P. Chaisson AU - Chad Tomlinson AU - John Huddleston AU - Patrick Minx AU - Milinn Kremitzki AU - Derek Albrecht AU - Vincent Magrini AU - Sean McGrath AU - Archana Raja AU - Carl Baker AU - Lana Harshman AU - LaDeana W. Hillier AU - Françoise Thibaud-Nissen AU - Nathan Bouk AU - Amy Ly AU - Chris Amemiya AU - Joyce Tang AU - Evan E. Eichler AU - Robert S. Fulton AU - Wesley C. Warren AU - Deanna M. Church AU - Richard K. Wilson Y1 - 2016/01/01 UR - http://biorxiv.org/content/early/2016/08/02/067447.abstract N2 - De novo assembly of human genomes is now a tractable effort due in part to advances in sequencing and mapping technologies. We use PacBio single-molecule, real-time (SMRT) sequencing and BioNano genomic maps to construct the first de novo assembly of NA19240, a Yoruban individual from Africa. This chromosome-scaffolded assembly of 3.08 Gb with a contig N50 of 7.25 Mb and a scaffold N50 of 78.6 Mb represents one of the most contiguous high-quality human genomes. We utilize a BAC library derived from NA19240 DNA and novel haplotype-resolving sequencing technologies and algorithms to characterize regions of complex genomic architecture that are normally lost due to compression to a linear haploid assembly. Our results demonstrate that multiple technologies are still necessary for complete genomic representation, particularly in regions of highly identical segmental duplications. Additionally, we show that diploid assembly has utility in improving the quality of de novo human genome assemblies. ER -