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Showing 1–6 of 6 results
Advanced filters: Author: Chris Towne Clear advanced filters
  • Here, the genomes of a malignant melanoma and a lymphoblastoid cell line from the same person are sequenced, providing the first comprehensive catalogue of somatic mutations from an individual cancer. The data provide insight into the causes of tumour formation and the development of the cancer genome, with the dominant mutational signature reflecting DNA damage due to ultraviolet light exposure.

    • Erin D. Pleasance
    • R. Keira Cheetham
    • Michael R. Stratton
    ResearchOpen Access
    Nature
    Volume: 463, P: 191-196
  • This paper reports integrative molecular analyses of urothelial bladder carcinoma at the DNA, RNA, and protein levels performed as part of The Cancer Genome Atlas project; recurrent mutations were found in 32 genes, including those involved in cell-cycle regulation, chromatin regulation and kinase signalling pathways; chromatin regulatory genes were more frequently mutated in urothelial carcinoma than in any other common cancer studied so far.

    • John N. Weinstein
    • Rehan Akbani
    • Greg Eley
    ResearchOpen Access
    Nature
    Volume: 507, P: 315-322
  • A consortium reports the tripling of the number of genetic markers in Phase II of the International HapMap Project. This map of human genetic variation will continue to revolutionize discovery of susceptibility loci in common genetic diseases, and study of genes under selection in humans.

    • Kelly A. Frazer (Principal Investigator)
    • Dennis G. Ballinger
    • John Stewart
    Research
    Nature
    Volume: 449, P: 851-861
  • Sabeti et al. build on their This paper builds on previous work of detecting selection on human genes, using the many more markers available in the Phase II HapMap project. Three examples of apparent population-specific selection based on geographic area are described, and how these may relate to human biology is discussed.

    • Pardis C. Sabeti
    • Patrick Varilly
    • John Stewart
    Research
    Nature
    Volume: 449, P: 913-918