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Showing 1–9 of 9 results
Advanced filters: Author: Readman Chiu Clear advanced filters

  • Current human tandem repeat catalogs are derived from short-read sequencing data, thus limiting the size range and sequence complexity of captured genotypes. Here the authors generate a comprehensive catalog de novo using long-read sequencing data.

    • Readman Chiu
    • Indhu-Shree Rajan-Babu
    • Inanc Birol
    ResearchOpen Access
    Nature Communications
    Volume: 17, P: 1-13

  • Most existing long-read transcriptome assembly methods rely on reference genomes and transcript annotations, while reference-free methods remain scarce. Here, Nip et al. introduce RNA-Bloom2, a reference-free method that requires substantially less memory and runtime than other reference-free methods.

    • Ka Ming Nip
    • Saber Hafezqorani
    • Inanc Birol
    ResearchOpen Access
    Nature Communications
    Volume: 14, P: 1-14

  • Medulloblastoma is the most common malignant brain tumour in children; having assembled over 1,000 samples the authors report that somatic copy number aberrations are common in medulloblastoma, in particular a tandem duplication of SNCAIP, a gene associated with Parkinson’s disease, which is restricted to subgroup 4α, and translocations of PVT1, which are restricted to Group 3.

    • Paul A. Northcott
    • David J. H. Shih
    • Michael D. Taylor
    ResearchOpen Access
    Nature
    Volume: 488, P: 49-56

  • Several genomic features have been found for acute myeloid leukaemia (AML) but targeted clinical genetic testing fails to predict prognosis. Here, the authors generate an AML prognostic score from RNA-seq data of patients, which successfully stratifies AML patients and which may provide guidance for therapeutic strategies.

    • T. Roderick Docking
    • Jeremy D. K. Parker
    • Aly Karsan
    ResearchOpen Access
    Nature Communications
    Volume: 12, P: 1-15

  • The Trans-ABySS pipeline is an integrated approach for transcript assembly and analysis to identify new mRNA isoforms and structures.

    • Gordon Robertson
    • Jacqueline Schein
    • Inanc Birol
    Research
    Nature Methods
    Volume: 7, P: 909-912

  • 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