Patrick Morgan

Structural variation in the 3D genome

Latest Reviews

  • Review Article |

    Various types of observational studies can provide statistical associations between factors, such as between an environmental exposure and a disease state. This Review discusses the various genetics-focused statistical methodologies that can move beyond mere associations to identify (or refute) various mechanisms of causality, with implications for responsibly managing risk factors in health care and the behavioural and social sciences.

    • Jean-Baptiste Pingault
    • , Paul F. O’Reilly
    • , Tabea Schoeler
    • , George B. Ploubidis
    • , Frühling Rijsdijk
    •  & Frank Dudbridge
  • Review Article |

    Genomic technologies are helping researchers to understand the natural genetic variation that exists in wild and cultivated rice populations. Harnessing this genetic variation will be key to developing Green Super Rice varieties with high yield and low environmental costs.

    • Rod A. Wing
    • , Michael D. Purugganan
    •  & Qifa Zhang
  • Review Article |

    Fine-mapping is the process by which a trait-associated region from a genome-wide association study (GWAS) is analysed to identify the particular genetic variants that are likely to causally influence the examined trait. This Review discusses the diverse statistical approaches to fine-mapping and their foundations, strengths and limitations, including integration of trans-ethnic human population data and functional annotations.

    • Daniel J. Schaid
    • , Wenan Chen
    •  & Nicholas B. Larson
  • Review Article |

    Virtually all studies depend on annotations, maps of the genome that catalogue gene loci and the sequences of their transcripts. This Review discusses the state of currently available long non-coding RNA annotations and the impact of emerging technologies such as long-read sequencing.

    • Barbara Uszczynska-Ratajczak
    • , Julien Lagarde
    • , Adam Frankish
    • , Roderic Guigó
    •  & Rory Johnson
  • Review Article |

    Polygenic risk profiling can lead to actionable outcomes for individuals at high risk of developing a subset of common adult-onset polygenic diseases. The authors review recent studies that have demonstrated the utility of polygenic risk scores for disease risk stratification and their potential impact on early disease detection, prevention, therapeutic intervention and life planning.

    • Ali Torkamani
    • , Nathan E. Wineinger
    •  & Eric J. Topol
  • Review Article |

    RNA is controlled at various stages of transcription and processing to achieve appropriate gene regulation. Whereas much research has focused on the cytoplasmic control of RNA levels, this Review discusses our emerging appreciation of the importance of nuclear RNA regulation, including the molecular machinery involved in nuclear RNA decay, how functional RNAs bypass degradation and roles for nuclear RNA decay in physiology and disease.

    • Manfred Schmid
    •  & Torben Heick Jensen

News & Comment

  • Research Highlight |

    A new study reveals that DNA methylation-mediated repression of gene expression regulates early eye development in blind cave morphs of Astyanax mexicanus.

    • Linda Koch
  • Research Highlight |

    A paper in Cell presents split–pool recognition of interactions by tag extension (SPRITE), a method that enables the identification of multiple, simultaneously occurring DNA and RNA interactions genome-wide within the nucleus.

    • Linda Koch
  • Comment |

    Current approaches for diagnosing mitochondrial disorders involve specialist clinical assessment, biochemical analyses and targeted molecular genetic testing. There is now a strong rationale for undertaking first-line genome-wide sequencing, accelerating the speed of diagnosis and avoiding the need for expensive and invasive investigations.

    • F. Lucy Raymond
    • , Rita Horvath
    •  & Patrick F. Chinnery
  • Research Highlight |

    Two articles published in Cell report new approaches to isolate and interrogate intronic sequences from eukaryotic spliceosomes.

    • Rebecca Furlong

Collection

The 3D genome

V. Summersby

The 3D genome

This collection includes recent articles from across the Nature group of journals and showcases both the latest advances in the methodologies used to study genome organization, and our recent understanding of how genome organization and nuclear architecture regulate gene expression, cell fate and cell function in physiology and disease.

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