Article
Deep sequencing of 10,000 human genomes.
Proceedings of the National Academy of Sciences of the United States of America - 18 Oct 2016
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
Abstract excerpt
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 known pathogenic variant positions. We present the distribution of over 150 million single-nucleotide variants in...
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