Single haplotype assembly of the human genome from a hydatidiform mole
Karyn Meltz Steinberg, Valerie K Schneider, Tina A Graves-Lindsay, Robert S Fulton, Richa Agarwala, John Huddleston, Sergey A Shiryayev, Aleksandr Morgulis, Urvashi Surti, Wesley C Warren, Deanna M Church, Evan E Eichler, Richard K Wilson
The paper presents a haploid human genome assembly from a hydatidiform mole, highlighting its high quality but identifying misassembled regions enriched for structural variation.
Genome Research · Nov 4, 2014Peer-reviewedGenomics