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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Shranjeno v:
Bibliografske podrobnosti
izdano v: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
Jezik:Inglês
Izdano: National Academy of Sciences 2016
Teme:
Biological Sciences
Online dostop: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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