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    The characterization of twenty sequenced human genomes.

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    Date
    2010-09-09
    Authors
    Campbell, CR
    Cirulli Rogers, Elizabeth T
    Dickson, SP
    Fellay, J
    Ge, Dongliang
    Goedert, JJ
    Goldstein, David Benjamin
    Gumbs, Curtis E
    Haynes, Barton Ford
    Heinzen, EL
    Hong, LK
    Hoover-Fong, JE
    Lornsen, KA
    Maia, JM
    McKenzie, AM
    Milner, JD
    Need, AC
    Ottman, R
    Pelak, K
    Ruzzo, EK
    Shianna, Kevin V
    Singh, A
    Smith, JP
    Sobreira, NL
    Zhu, M
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    Abstract
    We present the analysis of twenty human genomes to evaluate the prospects for identifying rare functional variants that contribute to a phenotype of interest. We sequenced at high coverage ten "case" genomes from individuals with severe hemophilia A and ten "control" genomes. We summarize the number of genetic variants emerging from a study of this magnitude, and provide a proof of concept for the identification of rare and highly-penetrant functional variants by confirming that the cause of hemophilia A is easily recognizable in this data set. We also show that the number of novel single nucleotide variants (SNVs) discovered per genome seems to stabilize at about 144,000 new variants per genome, after the first 15 individuals have been sequenced. Finally, we find that, on average, each genome carries 165 homozygous protein-truncating or stop loss variants in genes representing a diverse set of pathways.
    Type
    Journal article
    Subject
    Base Sequence
    Case-Control Studies
    DNA Copy Number Variations
    Databases, Genetic
    Exons
    Factor VIII
    Gene Duplication
    Gene Knockout Techniques
    Genetics, Population
    Genome, Human
    Genotype
    Hemophilia A
    Humans
    INDEL Mutation
    Oligonucleotide Array Sequence Analysis
    Open Reading Frames
    Polymorphism, Genetic
    Polymorphism, Single Nucleotide
    Sequence Analysis, DNA
    Permalink
    https://hdl.handle.net/10161/4478
    Published Version (Please cite this version)
    10.1371/journal.pgen.1001111
    Publication Info
    Campbell, CR; Cirulli Rogers, Elizabeth T; Dickson, SP; Fellay, J; Ge, Dongliang; Goedert, JJ; ... Zhu, M (2010). The characterization of twenty sequenced human genomes. PLoS Genet, 6(9). pp. e1001111. 10.1371/journal.pgen.1001111. Retrieved from https://hdl.handle.net/10161/4478.
    This is constructed from limited available data and may be imprecise. To cite this article, please review & use the official citation provided by the journal.
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    Scholars@Duke

    Cirulli

    Elizabeth Cirulli

    Adjunct Assistant Prof in the Department of Molecular Genetics and Microbiology
    Liz is interested in the genetics underlying normal variation in healthy humans, with a focus on traits relevant to disease and involving neuronal function, for example cognitive performance, face recognition, and time perception. She is also interested in applying genome sequencing for disease gene discovery and in studying people with extreme traits, such as those living to at least 100 years of age.

    Dongliang Ge

    Adjunct Assistant Professor in the Department of Biostatistics and Bioinformatics

    David Benjamin Goldstein

    Adjunct Professor in the Department of Molecular Genetics and Microbiology
    Haynes

    Barton Ford Haynes

    Frederic M. Hanes Professor of Medicine
    The Haynes lab is studying host innate and adaptive immune responses to the human immunodeficiency virus (HIV), tuberculosis (TB), and influenza in order to find the enabling technology to make preventive vaccines against these three major infectious diseases. Mucosal Immune Responses in Acute HIV Infection The Haynes lab is working to determine why broadly neutralizing antibodies are rarely made in acute HIV infection (AHI), currently a major obstacle in the de
    Alphabetical list of authors with Scholars@Duke profiles.
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    Articles written by Duke faculty are made available through the campus open access policy. For more information see: Duke Open Access Policy

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