Targeted Investigation of the Neandertal Genome by Array-Based Sequence Capture

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Science  07 May 2010:
Vol. 328, Issue 5979, pp. 723-725
DOI: 10.1126/science.1188046
  • Fig. 1

    (A) Identification of protein-coding changes that are likely to have become fixed recently (red bar) in modern humans after the population split from Neandertals. Such positions would be derived in all present-day humans but ancestral in the Neandertal. (B) Distribution of Neandertal coverage for ~14,000 amino acid substitution sites found in the human genome by comparison to primate outgroups. The same sites were also sequenced in 50 present-day humans. Of these, 88 were found to be fixed derived in present-day humans and ancestral in Neandertal, representing recently fixed protein-coding changes in the human genome.

  • Fig. 2

    Evolutionary conservation at positions affected by substitutions that are fixed in present-day humans. For each bin of conservation GERP (Genomic Evolutionary Rate Profiling) scores, the fractions of derived and ancestral alleles of all positions where the Neandertal carries derived (blue) and ancestral alleles (red), respectively, are given. Error bars are 95% binomial confidence intervals.

Additional Files

  • Targeted Investigation of the Neandertal Genome by Array-Based Sequence Capture
    Hernán A. Burbano, Emily Hodges, Richard E. Green, Adrian W. Briggs, Johannes Krause, Matthias Meyer, Jeffrey M. Good, Tomislav Maricic, Philip L. F. Johnson, Zhenyu Xuan, Michelle Rooks, Arindam Bhattacharjee, Leonardo Brizuela, Frank W. Albert, Marco de la Rasilla, Javier Fortea, Antonio Rosas, Michael Lachmann, Gregory J. Hannon, Svante Pääbo

    Supporting Online Material

    This supplement contains:
    Materials and Methods
    Figs. S1 to S4
    Tables S1 to S5

    This file is in Adobe Acrobat PDF format.

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