Deep sequencing of 10,000 human genomes.
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ABSTRACT:
SUBMITTER: Telenti A
PROVIDER: S-EPMC5081584 | biostudies-literature | 2016 Oct
REPOSITORIES: biostudies-literature
Publications
Deep sequencing of 10,000 human genomes.
Telenti Amalio A Pierce Levi C T LC Biggs William H WH di Iulio Julia J Wong Emily H M EH Fabani Martin M MM Kirkness Ewen F EF Moustafa Ahmed A Shah Naisha N Xie Chao C Brewerton Suzanne C SC Bulsara Nadeem N Garner Chad C Metzker Gary G Sandoval Efren E Perkins Brad A BA Och Franz J FJ Turpaz Yaron Y Venter J Craig JC
Proceedings of the National Academy of Sciences of the United States of America 20161004 42
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 the coding and noncoding genome. Each newly sequenced genome contributes an average of ...[more]
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