Article
Resolving the complexity of the human genome using single-molecule sequencing.
Nature - 29 Jan 2015
Chaisson Mark J P, Huddleston John, Dennis Megan Y, Sudmant Peter H, Malig Maika, Hormozdiari Fereydoun, Antonacci Francesca, Surti Urvashi, Sandstrom Richard, Boitano Matthew, Landolin Jane M, Stamatoyannopoulos John A, Hunkapiller Michael W, Korlach Jonas, Eichler Evan E
Abstract excerpt
The human genome is arguably the most complete mammalian reference assembly, yet more than 160 euchromatic gaps remain and aspects of its structural variation remain poorly understood ten years after its completion. To identify missing sequence and genetic variation, here we sequence and analyse a haploid human genome (CHM1) using single-molecule, real-time DNA sequencing. We close or extend 55% of the remaining...
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