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  • Focus |

    The largest-ever set of human genomes from a single population and the consequent insights into mutation, evolution, gene function and disease predisposition are reported in four linked papers. These results provide a strategy for the analysis of the full spectrum of genetic variation in any population and raise questions about how society should implement the knowledge gained. Produced with support from Illumina.

  • Focus |

    Genomic alterations in diverse cell types at different sites in the body give rise to hundreds of different forms of cancer and the ways in which these changes give rise to tumors with different biology, pathology and treatment strategies are beginning to be characterized. The Cancer Genome Atlas Research Network has catalogued the aberrations in the DNA, chromatin and RNA of the genomes of thousands of tumors relative to matched normal cellular genomes and have analyzed their epigenetic and protein consequences. Here, the Pan-cancer initiative examines the similarities and differences among the genomic and cellular alterations found in the first dozen tumor types to be profiled by TCGA. This first look across cancer offers new tools in genomics and bioinformatics and the prospect of repurposing targeted therapies directed by the molecular pathology of the tumors in addition to their clinical classification.

  • Focus |

    The iCOGS Focus highlights 13 papers in genetic epidemiology from the COGS consortium, representing a significant advance in our understanding of genetic susceptibility to breast, ovarian and prostate cancer.

  • Focus |

    Celiac disease is an intestinal inflammatory disorder that occurs in genetically predisposed individuals and causes intolerance to wheat protein gluten and related proteins (prolamines) that are contained in barley and rye. Histologically, the small bowel mucosa in celiac disease shows villous atrophy (lost of villi), crypt hyperplasia and lymphocyte infiltration. To allow better understand the histological damage that occurs during mucosal changes Marsh proposed a series of stages to aid diagnostics: Marsh I represents lymphocytic enteritis, Marsh II represents lymphocytic enteritis with crypt hyperplasia, and Marsh III represents partial (a), subtotal (b) and total (c) villous atrophy. These changes are accompanied by a gradual increase in the number of T cells and activation of immunoregulatory counteractions in the diseased mucosa. The March 2011 special issue on celiac sprue and mucosal immunity presents some of the latest advances in celiac disease diagnostics; the web focus further expands our understanding of this inflammatory disorder through a collection of recent articles from across Springer Nature.

  • Focus |

    Individual genomes vary, not only in sequence, but in both their structural organization and in the number of sequence copies they contain. We now have the technology to understand the mechanisms by which genomes diverge, and to investigate the consequences of copy number variation for gene expression and clinical phenotypes. With sponsorship from Agilent Technologies, we present a Focus on copy number variation highlighting the complementary roles of paired-end sequencing and oligonucleotide array technology in research discovery.

  • Focus |

    The 'Year of the Rat' offers a mixture of commentaries and primary research papers showcasing the increasing power of rat genetics and its contribution to understanding complex traits. This focus is freely available for three months.

  • Focus |

    A focus examining recent advances in mouse genetics and how to best exploit the vast tools and resources available in the mouse to advance our understanding of significant disease and human health issues.