Article
Single haplotype assembly of the human genome from a hydatidiform mole.
Genome research - 1 Dec 2014
Steinberg Karyn Meltz, Schneider Valerie A, Graves-Lindsay Tina A, Fulton Robert S, Agarwala Richa, Huddleston John, Shiryev Sergey A, Morgulis Aleksandr, Surti Urvashi, Warren Wesley C, Church Deanna M, Eichler Evan E, Wilson Richard K
Abstract excerpt
A complete reference assembly is essential for accurately interpreting individual genomes and associating variation with phenotypes. While the current human reference genome sequence is of very high quality, gaps and misassemblies remain due to biological and technical complexities. Large repetitive sequences and complex allelic diversity are the two main drivers of assembly error. Although increasing the length...
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