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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Dettagli Bibliografici
Pubblicato in:Proc Natl Acad Sci U S A
Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: National Academy of Sciences 2016
Soggetti:
Biological Sciences
Accesso online: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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