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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Detalles Bibliográficos
Publicado en: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
Formato: Artigo
Idioma:Inglês
Publicado: National Academy of Sciences 2016
Assuntos:
Biological Sciences
Acceso en liña: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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