Deep sequencing of 10,000 human genomes

We report on the sequencing of 10,545 human genomes at 30×–40× coverage with an emphasis on quality metrics and novel variant and sequence discovery. We find that 84% of an individual human genome can be sequenced confidently. This high-confidence region includes 91.5% of exon sequence and 95.2% of...

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Udgivet i:Proc Natl Acad Sci U S A
Main Authors: Telenti, Amalio, Pierce, Levi C. T., Biggs, William H., di Iulio, Julia, Wong, Emily H. M., Fabani, Martin M., Kirkness, Ewen F., Moustafa, Ahmed, Shah, Naisha, Xie, Chao, Brewerton, Suzanne C., Bulsara, Nadeem, Garner, Chad, Metzker, Gary, Sandoval, Efren, Perkins, Brad A., Och, Franz J., Turpaz, Yaron, Venter, J. Craig
Format: Artigo
Sprog:Inglês
Udgivet: National Academy of Sciences 2016
Fag:
Biological Sciences
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5081584/
https://ncbi.nlm.nih.gov/pubmed/27702888
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.1613365113
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