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Showing 1–6 of 6 results
Advanced filters: Author: Erica Shefler 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

  • Matthew Meyerson and colleagues report whole-exome and whole-genome sequencing of 55 small intestine neuroendocrine tumors. They identify recurrent somatic mutations in CDKN1B, implicating cell cycle dysregulation in the pathogenesis of these tumors.

    • Joshua M Francis
    • Adam Kiezun
    • Matthew Meyerson
    Research
    Nature Genetics
    Volume: 45, P: 1483-1486

  • Adam Bass, Gad Getz and colleagues report whole-exome sequencing of 149 esophageal adenocarcinomas (EACs) and whole-genome sequencing of 15 EACs. They identify a mutational signature defined by a high prevalence of A>C transversions, as well as 26 genes mutated at high frequency in EACs.

    • Austin M Dulak
    • Petar Stojanov
    • Adam J Bass
    Research
    Nature Genetics
    Volume: 45, P: 478-486

  • Medulloblastoma is the most common brain tumour in children; using exome sequencing of tumour samples the authors show that these cancers have low mutation rates and identify 12 significantly mutated genes, among them the gene encoding RNA helicase DDX3X.

    • Trevor J. Pugh
    • Shyamal Dilhan Weeraratne
    • Yoon-Jae Cho
    Research
    Nature
    Volume: 488, P: 106-110

  • 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

  • John Maris, Matthew Meyerson, Marco Marra and colleagues report results of a large-scale sequencing study of neuroblastoma. They observe a low median exonic mutation frequency and strikingly few recurrently mutated genes in these tumors, highlighting challenges for developing targeted therapeutic strategies based on frequently mutated oncogenic drivers.

    • Trevor J Pugh
    • Olena Morozova
    • John M Maris
    Research
    Nature Genetics
    Volume: 45, P: 279-284