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Showing 1–3 of 3 results
Advanced filters: Author: Ole Schulz-Trieglaff Clear advanced filters

  • A study reports whole-genome sequences for 490,640 participants from the UK Biobank and combines these data with phenotypic data to provide new insights into the relationship between human variation and sequence variation.

    • Keren Carss
    • Bjarni V. Halldorsson
    • Ole Schulz-Trieglaff
    ResearchOpen Access
    Nature
    Volume: 645, P: 692-701

  • 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

  • DNA can be amplified and sequenced from a single cell, but unevenness of the sequence coverage complicates efforts to assemble a high-quality genome. Chitsaz et al. devise an algorithm to address this problem and apply it to assemble a genome draft of an uncultured single-cell marine organism from one lane of Illumina sequence data.

    • Hamidreza Chitsaz
    • Joyclyn L Yee-Greenbaum
    • Roger S Lasken
    Research
    Nature Biotechnology
    Volume: 29, P: 915-921