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Showing 1–5 of 5 results
Advanced filters: Author: Heather E. Peckham Clear advanced filters

  • The goal of the 1000 Genomes Project is to provide in-depth information on variation in human genome sequences. In the pilot phase reported here, different strategies for genome-wide sequencing, using high-throughput sequencing platforms, were developed and compared. The resulting data set includes more than 95% of the currently accessible variants found in any individual, and can be used to inform association and functional studies.

    • Richard M. Durbin
    • David Altshuler (Co-Chair)
    • Gil A. McVean
    ResearchOpen Access
    Nature
    Volume: 467, P: 1061-1073

  • Harnessing information from whole genome sequencing in 185 individuals, this study generates a high-resolution map of copy number variants. Nucleotide resolution of the map facilitates analysis of structural variant distribution and identification of the mechanisms of their origin. The study provides a resource for sequence-based association studies.

    • Ryan E. Mills
    • Klaudia Walter
    • Jan O. Korbel
    Research
    Nature
    Volume: 470, P: 59-65

  • Tobacco smoke contains more than sixty carcinogens that bind and mutate DNA. Here, massively parallel sequencing technology is used to sequence a small-cell lung cancer cell line, exploring the mutational burden associated with tobacco smoking. Multiple mutation signatures from the cocktail of carcinogens in tobacco smoke are found, as well as evidence of transcription-coupled repair and another, more general, expression-linked repair pathway.

    • Erin D. Pleasance
    • Philip J. Stephens
    • Peter J. Campbell
    ResearchOpen Access
    Nature
    Volume: 463, P: 184-190

  • Application of next-generation sequencing using the ABI SOLiD technology to mammalian transcriptome analysis enabled a survey of the content, the complexity and the developmental dynamics of the embryonic stem cell transcriptome in the mouse. Also in this issue, Mortazavi et al. report Illumina technology–based RNA-Seq analysis of the mouse transcriptome in three different tissues.

    • Nicole Cloonan
    • Alistair R R Forrest
    • Sean M Grimmond
    Research
    Nature Methods
    Volume: 5, P: 613-619