RT Journal Article
SR Electronic
T1 High-Quality Assembly of an Individual of Yoruban Descent
JF bioRxiv
FD Cold Spring Harbor Laboratory
SP 067447
DO 10.1101/067447
A1 Karyn Meltz Steinberg
A1 Tina Graves Lindsay
A1 Valerie A. Schneider
A1 Mark J.P. Chaisson
A1 Chad Tomlinson
A1 John Huddleston
A1 Patrick Minx
A1 Milinn Kremitzki
A1 Derek Albrecht
A1 Vincent Magrini
A1 Sean McGrath
A1 Archana Raja
A1 Carl Baker
A1 Lana Harshman
A1 LaDeana W. Hillier
A1 Françoise Thibaud-Nissen
A1 Nathan Bouk
A1 Amy Ly
A1 Chris Amemiya
A1 Joyce Tang
A1 Evan E. Eichler
A1 Robert S. Fulton
A1 Wesley C. Warren
A1 Deanna M. Church
A1 Richard K. Wilson
YR 2016
UL http://biorxiv.org/content/early/2016/08/02/067447.abstract
AB 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.