Classification and taxonomy

  • Article
    | Open Access

    Whole genome sequencing is increasingly being adopted for Shigella sonnei outbreak investigation and surveillance, but there is no global classification standard. Here, the authors develop and validate a genomic framework implemented using open-source software, and demonstrate its application using surveillance data.

    • Jane Hawkey
    • , Kalani Paranagama
    •  & Kathryn E. Holt
  • Article
    | Open Access

    Sarcomas are morphologically heterogeneous tumours rendering their classification challenging. Here the authors developed a classifier using DNA methylation data from several soft tissue and bone sarcoma subtypes, which has the potential to improve classification for research and clinical purposes.

    • Christian Koelsche
    • , Daniel Schrimpf
    •  & Andreas von Deimling
  • Article
    | Open Access

    The human- and animal-adapted lineages of the Mycobacterium tuberculosis complex (MTBC) are thought to be evolved from a common progenitor in Africa. Here, the authors identify two MTBC strains isolated from patients with multidrug-resistant tuberculosis, representing an as-yet-unknown lineage further supporting an East African origin for the MTBC.

    • Jean Claude Semuto Ngabonziza
    • , Chloé Loiseau
    •  & Philip Supply
  • Article
    | Open Access

    Molecular analysis of archival formalin-fixed clinical tissues can be difficult. Here, researchers have developed MethCORR, an approach that infers gene expression from DNA methylation data and use the approach for molecular characterization and prognostication of colorectal cancer using archival samples.

    • Trine B. Mattesen
    • , Mads H. Rasmussen
    •  & Jesper B. Bramsen
  • Article
    | Open Access

    In breast cancer, the claudin-low breast cancer subtype is remarkably diverse. Here, the authors propose that claudin-low is not a classical intrinsic breast cancer subtype, but rather a complex additional phenotype that can occur across intrinsic subtypes.

    • Christian Fougner
    • , Helga Bergholtz
    •  & Therese Sørlie
  • Article
    | Open Access

    Atopic dermatitis (AD) and psoriasis (PSO) are associated with dysbiosis. Here, by analyses of skin microbiome and host transcriptome of AD and PSO patients, the authors find distinct microbial and disease-related gene transcriptomic signatures that differentiate both diseases.

    • Nanna Fyhrquist
    • , Gareth Muirhead
    •  & Harri Alenius
  • Article
    | Open Access

    Taxonomy classification of amplicon sequences is an important step in investigating microbial communities in microbiome analysis. Here, the authors show incorporating environment-specific taxonomic abundance information can lead to improved species-level classification accuracy across common sample types.

    • Benjamin D. Kaehler
    • , Nicholas A. Bokulich
    •  & Gavin A. Huttley
  • Article
    | Open Access

    Sequencing platforms, such as Oxford Nanopore or Pacific Biosciences generate long-read data that preserve long-range genomic information but have high error rates. Here, the authors develop MetaMaps, a computational tool for strain-level metagenomic assignment and compositional estimation using long reads.

    • Alexander T. Dilthey
    • , Chirag Jain
    •  & Adam M. Phillippy
  • Article
    | Open Access

    Cation/proton antiporters (CPAs) play a major role in maintaining living cells’ homeostasis and are divided in two main groups: CPA1 and CPA2. Here authors use a comprehensive evolutionary analysis of 6537 representative CPAs and reveal a sequence motif that determines central phenotypic characteristics.

    • Gal Masrati
    • , Manish Dwivedi
    •  & Nir Ben-Tal
  • Article
    | Open Access

    Informative pathways driving cancer pathogenesis and subtypes can be difficult to identify in the presence of many gene interactions irrelevant to cancer. Here, the authors describe an approach for cancer gene pathway analysis based on key molecular interactions that drive cancer in relevant tissue types, and they assemble a focused map of Evolutionarily Selected Pathways (ESP) with interactions supported by both protein–protein binding and genetic epistasis during somatic tumor evolution.

    • Sheng Wang
    • , Jianzhu Ma
    •  & Trey Ideker
  • Article
    | Open Access

    Viral taxonomic characterization from metagenomic data suffers from high background noise and signal crosstalk. Here, the authors develop VirMAP, a novel pipeline for analyses of metagenomic data that classifies viral reconstructions independent of genome coverage or read overlap.

    • Nadim J Ajami
    • , Matthew C. Wong
    •  & Joseph F. Petrosino
  • Article
    | Open Access

    Germline mutations in homologous recombination (HR) DNA repair genes are linked to breast and ovarian cancer. Here, the authors show that mutually exclusive bi-allelic inactivation of HR genes are present in other cancer types and associated with genomic features of HR deficiency, expanding the potential use of HR-directed therapies.

    • Nadeem Riaz
    • , Pedro Blecua
    •  & Jorge S. Reis-Filho
  • Article
    | Open Access

    Tumour expression profiling is currently used for prognostic and predictive purposes without taking into account the intra patient heterogeneity. Here the authors show that cancer cell specific signatures overcome the tumour heterogeneity effect and result in better classification of colorectal cancer patients.

    • Philip D. Dunne
    • , Matthew Alderdice
    •  & Mark Lawler
  • Article
    | Open Access

    Here, Anders Krogh and colleagues describe Kaiju, a metagenome taxonomic classification program that uses maximum (in-)exact matches on the protein-level to account for evolutionary divergence. The authors show that Kaiju performs faster and is more sensitive compared with existing algorithms and can be used on a standard computer.

    • Peter Menzel
    • , Kim Lee Ng
    •  & Anders Krogh