Assembly and diploid architecture of an individual human genome via single-molecule technologies

We present the first comprehensive analysis of a diploid human genome that combines single-molecule sequencing with single-molecule genome maps. Our hybrid assembly markedly improves upon the contiguity observed from traditional shotgun sequencing approaches, with scaffold N50 values approaching 30...

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Gepubliceerd in:Nat Methods
Hoofdauteurs: Pendleton, Matthew, Sebra, Robert, Pang, Andy Wing Chun, Ummat, Ajay, Franzen, Oscar, Rausch, Tobias, Stütz, Adrian M, Stedman, William, Anantharaman, Thomas, Hastie, Alex, Dai, Heng, Fritz, Markus Hsi-Yang, Cao, Han, Cohain, Ariella, Deikus, Gintaras, Durrett, Russell E, Blanchard, Scott C, Altman, Roger, Chin, Chen-Shan, Guo, Yan, Paxinos, Ellen E, Korbel, Jan O, Darnell, Robert B, McCombie, W Richard, Kwok, Pui-Yan, Mason, Christopher E, Schadt, Eric E, Bashir, Ali
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: 2015
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Article
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4646949/
https://ncbi.nlm.nih.gov/pubmed/26121404
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/nmeth.3454
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