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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
general
Deep sequencing of 10,000 human genomes
Proceedings of the National Academy of Sciences of the United States of America, Volume 113, No. 42, Year 2016
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Description
We report on the sequencing of 10,545 human genomes at 30x-40x 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 8,579 novel variants. In addition, each genome carries on average 0.7 Mb of sequence that is not found in the main build of the hg38 reference genome. The density of this catalog of variation allowed us to construct high-resolution profiles that define genomic sites that are highly intolerant of genetic variation. These results indicate that the data generated by deep genome sequencing is of the quality necessary for clinical use. © 2016, National Academy of Sciences. All rights reserved.
Available Materials
https://efashare.b-cdn.net/share/pmc/articles/PMC5081584/bin/pnas.1613365113.sapp.pdf
Authors & Co-Authors
Telenti, Amalio
United States, San Diego
Human Longevity, Inc.
United States, Rockville
J. Craig Venter Institute
Kirkness, Ewen F.
United States, San Diego
Human Longevity, Inc.
Moustafa, Ahmed M.
United States, San Diego
Human Longevity, Inc.
Garner, Chad P.
United States, San Diego
Human Longevity, Inc.
Sandoval, Efren
United States, San Diego
Human Longevity, Inc.
Venter, J. Craig
United States, San Diego
Human Longevity, Inc.
United States, Rockville
J. Craig Venter Institute
Statistics
Citations: 222
Authors: 6
Affiliations: 2
Identifiers
Doi:
10.1073/pnas.1613365113
ISSN:
00278424
Research Areas
Genetics And Genomics
Health System And Policy