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Showing 1–6 of 6 results
Advanced filters: Author: Lauren Ambrogio Clear advanced filters

  • Whole-genome sequencing of 25 metastatic melanomas and matched germline DNA in humans reveals that the highest mutation load is associated with chronic sun exposure, and that the PREX2 gene is mutated in approximately 14 per cent of cases

    • Michael F. Berger
    • Eran Hodis
    • Levi A. Garraway
    ResearchOpen Access
    Nature
    Volume: 485, P: 502-506

  • Prostate cancer is a common cause of male cancer-related deaths. Complete sequencing of prostate cancer genomes now reveals previously unknown balanced rearrangements. Single-nucleotide resolution afforded by sequencing indicates that complex rearrangements may arise from transcriptional or chromatin aberrancies and engage prostate tumorigenic mechanisms.

    • Michael F. Berger
    • Michael S. Lawrence
    • Levi A. Garraway
    ResearchOpen Access
    Nature
    Volume: 470, P: 214-220

  • 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

  • Whole-exome sequencing and analysis of 115 cervical carcinoma–normal paired samples, in addition to transcriptome and whole-genome sequencing for a subset of these tumours, reveal novel genes mutated at significant levels within this cohort and provide evidence that HPV integration is a common mechanism for target gene overexpression; results also compare mutational landscapes between squamous cell carcinomas and adenocarcinomas.

    • Akinyemi I. Ojesina
    • Lee Lichtenstein
    • Matthew Meyerson
    Research
    Nature
    Volume: 506, P: 371-375

  • As the sample size in cancer genome studies increases, the list of genes identified as significantly mutated is likely to include more false positives; here, this problem is identified as stemming largely from mutation heterogeneity, and a new analytical methodology designed to overcome this problem is described.

    • Michael S. Lawrence
    • Petar Stojanov
    • Gad Getz
    Research
    Nature
    Volume: 499, P: 214-218