News & Comment

  • Correspondence |

    • Weiyin Zhou
    • , Mitchell J. Machiela
    • , Neal D. Freedman
    • , Nathaniel Rothman
    • , Nuria Malats
    • , Casey Dagnall
    • , Neil Caporaso
    • , Lauren T. Teras
    • , Mia M. Gaudet
    • , Susan M. Gapstur
    • , Victoria L. Stevens
    • , Kevin B. Jacobs
    • , Joshua Sampson
    • , Demetrius Albanes
    • , Stephanie Weinstein
    • , Jarmo Virtamo
    • , Sonja Berndt
    • , Robert N. Hoover
    • , Amanda Black
    • , Debra Silverman
    • , Jonine Figueroa
    • , Montserrat Garcia-Closas
    • , Francisco X. Real
    • , Julie Earl
    • , Gaelle Marenne
    • , Benjamin Rodriguez-Santiago
    • , Margaret Karagas
    • , Alison Johnson
    • , Molly Schwenn
    • , Xifeng Wu
    • , Jian Gu
    • , Yuanqing Ye
    • , Amy Hutchinson
    • , Margaret Tucker
    • , Luis A. Perez-Jurado
    • , Michael Dean
    • , Meredith Yeager
    •  & Stephen J. Chanock
  • News & Views |

    The genomes for essentially all worm parasites of humans are in hand thanks to a new study. Now we have to use them.

    • Paul W. Sternberg
  • Editorial |

    Well-designed science education via social media may help to reach a larger group of audiences with the aim of reducing the boundaries between researchers and the public. This may, in turn, move basic science toward translational improvement in human health and agriculture.

  • News & Views |

    A new study identifies loss-of-function mutations in HAVCR2, which encodes TIM-3, in patients with a rare cutaneous T cell lymphoma associated with aberrant immunological activation. These mutations lead to loss of the TIM-3 immunological checkpoint, thus promoting inflammation and malignancy.

    • Karen O. Dixon
    • , Madhumita Das
    •  & Vijay K. Kuchroo
  • Correspondence |

    • Maxime Tarabichi
    • , Iñigo Martincorena
    • , Moritz Gerstung
    • , Armand M. Leroi
    • , Florian Markowetz
    • , Stefan C. Dentro
    • , Ignaty Leshchiner
    • , Moritz Gerstung
    • , Clemency Jolly
    • , Kerstin Haase
    • , Maxime Tarabichi
    • , Jeff Wintersinger
    • , Amit G. Deshwar
    • , Kaixian Yu
    • , Santiago Gonzalez
    • , Yulia Rubanova
    • , Geoff Macintyre
    • , David J. Adams
    • , Pavana Anur
    • , Rameen Beroukhim
    • , Paul C. Boutros
    • , David D. Bowtell
    • , Peter J. Campbell
    • , Shaolong Cao
    • , Elizabeth L. Christie
    • , Marek Cmero
    • , Yupeng Cun
    • , Kevin J. Dawson
    • , Jonas Demeulemeester
    • , Nilgun Donmez
    • , Ruben M. Drews
    • , Roland Eils
    • , Yu Fan
    • , Matthew Fittall
    • , Dale W. Garsed
    • , Gad Getz
    • , Gavin Ha
    • , Marcin Imielinski
    • , Lara Jerman
    • , Yuan Ji
    • , Kortine Kleinheinz
    • , Juhee Lee
    • , Henry Lee-Six
    • , Dimitri G. Livitz
    • , Salem Malikic
    • , Florian Markowetz
    • , Iñigo Martincorena
    • , Thomas J. Mitchell
    • , Ville Mustonen
    • , Layla Oesper
    • , Martin Peifer
    • , Myron Peto
    • , Benjamin J. Raphael
    • , Daniel Rosebrock
    • , S. Cenk Sahinalp
    • , Adriana Salcedo
    • , Matthias Schlesner
    • , Steven Schumacher
    • , Subhajit Sengupta
    • , Ruian Shi
    • , Seung Jun Shin
    • , Lincoln D. Stein
    • , Ignacio Vázquez-García
    • , Shankar Vembu
    • , David A. Wheeler
    • , Tsun-Po Yang
    • , Xiaotong Yao
    • , Ke Yuan
    • , Hongtu Zhu
    • , Wenyi Wang
    • , Quaid D. Morris
    • , Paul T. Spellman
    • , David C. Wedge
    • , Peter Van Loo
    • , Paul T. Spellman
    • , Quaid D. Morris
    • , Ole Christian Lingjærde
    • , David C. Wedge
    •  & Peter Van Loo
  • Correspondence |

    • Timon Heide
    • , Luis Zapata
    • , Marc J. Williams
    • , Benjamin Werner
    • , Giulio Caravagna
    • , Chris P. Barnes
    • , Trevor A. Graham
    •  & Andrea Sottoriva
  • Correspondence |

    • Lars A. Forsberg
    • , Jonatan Halvardson
    • , Edyta Rychlicka-Buniowska
    • , Marcus Danielsson
    • , Behrooz Torabi Moghadam
    • , Jonas Mattisson
    • , Chiara Rasi
    • , Hanna Davies
    • , Lars Lind
    • , Vilmantas Giedraitis
    • , Lars Lannfelt
    • , Lena Kilander
    • , Martin Ingelsson
    •  & Jan P. Dumanski
  • Editorial |

    We are inviting presubmission enquiries for Articles, Perspectives and Analyses on human, animal, plant and microbial genetics and genomics from Africa, by corresponding authors living and working in African countries, with the aim of publishing an issue of the journal devoted to African genetics.

  • News & Views |

    The availability of various public resources has hastened the discovery of type 2 diabetes–associated loci in the largest genome-wide association study of the disease reported to date. In addition, these resources have also enabled researchers to get closer to determining the culprit genetic variants and therefore closer to the target effector genes driving these associations.

    • Diana L. Cousminer
    •  & Struan F. A. Grant
  • Editorial |

    A number of journalistic reports over the last year have drawn attention to dismaying trends in maternal and fetal health in the United States, particularly among African Americans. This public health crisis highlights the need for research into the genetic basis of maternal–fetal health and consideration of the genetic risk factors and exposures of women and children in diverse populations more broadly.

  • News & Views |

    Patient-derived cancer cell lines could address two major challenges in oncology: real-time drug response prediction and the creation of massive knowledge banks. A new study showcases the power of this approach for precision oncology.

    • Ultan McDermott
  • News & Views |

    A new study uncovers novel copy number signatures in ovarian cancer genomes. This work sheds light on mutational processes driving ovarian cancer, reveals the distribution of copy number features across the patient population and identifies new genomic properties related to treatment response.

    • Sohrab P. Shah
  • Editorial |

    Precision genomic medicine is now technically feasible. Just as global positioning systems revolutionized the logistics of travel, so genome-wide polygenic risk scores (GPSs) now have the potential to inform our trajectories of health and to serve in the prevention and mitigation of many common and complex diseases. We welcome research into the implementation of—and equity of access to—genetic predictors and their integration into clinical and evidence-based medical practice.

  • News & Views |

    Two new studies show that a plant-specific complex composed of EBS, or its homolog SHL, and EMF1 acts as a chromatin reader within the Polycomb pathway and effects gene repression. Two domains of EBS and SHL bind distinct chromatin modifications that are associated with active and repressed chromatin.

    • Kristin Krause
    •  & Franziska Turck
  • News & Views |

    Individual genome-wide polygenic risk scores (GPSs) for assessing disease susceptibility have been shown to yield both reliable and clinically meaningful results. However, certain impediments and outdated ways of thinking about health maintenance must be overcome before GPSs are adopted in routine care streams.

    • Andrew J. Schork
    • , M. Anthony Schork
    •  & Nicholas J. Schork
  • Editorial |

    Genomic research, sensitively deployed, has enormous potential to improve human health, animal health and agricultural crop quality and to guide sustainable contributions to the health of our environment. Within this broad context, we can learn from the metabolic adaptations and vulnerabilities of species threatened by environmental challenges in the context of climate change.

  • Editorial |

    In this issue, we highlight examples of the growing capability of genetic epidemiology and its intersection with genomic data to identify the underpinnings of the functions, predispositions and vulnerabilities of the human brain. In particular, we are publishing three studies into intelligence, neuroticism and epilepsy with the potential to guide interventions in education, neuroscience and medicine, respectively.

  • News & Views |

    Roses have held an attraction for people all over the world as ornamental plants. Now genome sequencing of the highly heterozygous Rosa chinensis and resequencing of major genotypes open the door to a greater understanding of rose evolutionary history and the regulatory mechanisms determining rose flower color and scent.

    • Qing Xu
    •  & Zhong-Jian Liu
  • Editorial |

    To celebrate the Rosa genomes, we invite you to imagine ways to make rosy data as well loved as the roses themselves. This is an opportunity for data modeling and new discoveries from reanalysis, as well as for data display to feed public interest in the science and culture of flowers.

  • News & Views |

    The ability to visualize and study the 3D folding of chromosomes in cells has been propelled forward by several major technological advances in the past two decades. Two new studies now further expand the scientific toolbox for studying chromosome conformation by providing novel methodologies for accurate mapping of genome topology and predicting the topological effects of genomic structural variation.

    • Ralph Stadhouders
  • Editorial |

    With new ways to examine the effects of mutations on gene expression within the 3D genome and increased emphasis on finding these variants by sequencing whole genomes, we would really like to know more about the rules that govern noncoding and regulatory sequences.

  • News & Views |

    The triplet code underpins analyses of rare and de novo mutations in exome sequencing data, but analysis of the noncoding genome is much more challenging. A new analytical framework for common, complex diseases highlights the need for very large samples to overcome the unavoidable multiple-testing burden and hence provides preemptive warnings against underpowered studies.

    • Naomi R. Wray
    •  & Jacob Gratten
  • Editorial |

    Largely owing to inequitable distribution of resources, the United States is failing its population in healthcare, for which it vastly overspends relative to other wealthy countries. We advocate extending research in genetic epidemiology to oversample poor people, underserved ancestry groups and ethnic minorities, as well as to use genetic predisposition as a baseline from which to examine environmental influences on the costly comorbidities of common diseases.

  • News & Views |

    In vivo verification of tumor suppressors and their interactions with each other has required complex experiments. A report in this issue uses a novel CRISPR–Cas9 technology with barcodes to test, in parallel, the tumorigenic potential of functional loss of multiple tumor-suppressor genes in the context of a genetically engineered mouse model of lung adenocarcinoma with mutant Kras.

    • James Kim
    •  & John D. Minna
  • News & Views |

    Noncoding expanded repeats have been implicated in a wide range of diseases. A new report uncovers expanded TTTCA and TTTTA repeats in an intronic region of SAMD12, and at least two other genes, in individuals with benign adult familial myoclonic epilepsy.

    • Marka van Blitterswijk
    •  & Rosa Rademakers