Genetics

Genetics is the branch of science concerned with genes, heredity, and variation in living organisms. It seeks to understand the process of trait inheritance from parents to offspring, including the molecular structure and function of genes, gene behaviour in the context of a cell or organism (e.g. dominance and epigenetics), gene distribution, and variation and change in populations.

Featured

Latest Research and Reviews

  • Research
    | Open Access

    The approximately 5-Gb tuatara (Sphenodon punctatus) genome assembly provides a resource for analysing amniote evolution, and highlights the imperative for meaningful cultural engagement with Indigenous communities in genome-sequencing endeavours.

    • Neil J. Gemmell
    • , Kim Rutherford
    • , Stefan Prost
    • , Marc Tollis
    • , David Winter
    • , J. Robert Macey
    • , David L. Adelson
    • , Alexander Suh
    • , Terry Bertozzi
    • , José H. Grau
    • , Chris Organ
    • , Paul P. Gardner
    • , Matthieu Muffato
    • , Mateus Patricio
    • , Konstantinos Billis
    • , Fergal J. Martin
    • , Paul Flicek
    • , Bent Petersen
    • , Lin Kang
    • , Pawel Michalak
    • , Thomas R. Buckley
    • , Melissa Wilson
    • , Yuanyuan Cheng
    • , Hilary Miller
    • , Ryan K. Schott
    • , Melissa D. Jordan
    • , Richard D. Newcomb
    • , José Ignacio Arroyo
    • , Nicole Valenzuela
    • , Tim A. Hore
    • , Jaime Renart
    • , Valentina Peona
    • , Claire R. Peart
    • , Vera M. Warmuth
    • , Lu Zeng
    • , R. Daniel Kortschak
    • , Joy M. Raison
    • , Valeria Velásquez Zapata
    • , Zhiqiang Wu
    • , Didac Santesmasses
    • , Marco Mariotti
    • , Roderic Guigó
    • , Shawn M. Rupp
    • , Victoria G. Twort
    • , Nicolas Dussex
    • , Helen Taylor
    • , Hideaki Abe
    • , Donna M. Bond
    • , James M. Paterson
    • , Daniel G. Mulcahy
    • , Vanessa L. Gonzalez
    • , Charles G. Barbieri
    • , Dustin P. DeMeo
    • , Stephan Pabinger
    • , Tracey Van Stijn
    • , Shannon Clarke
    • , Oliver Ryder
    • , Scott V. Edwards
    • , Steven L. Salzberg
    • , Lindsay Anderson
    • , Nicola Nelson
    • , Clive Stone
    • , Clive Stone
    • , Jim Smillie
    •  & Haydn Edmonds
    Nature, 1-7
  • Reviews |

    ROS1 fusions can be identified across a range of malignancies and confer a high level of sensitivity to ROS1 tyrosine kinase inhibitors. Herein, the authors discuss the non-malignant and malignant biology of ROS1, the diagnostic approaches to identifying ROS1 fusions and the current therapeutic concepts relating to ROS1 fusion-positive cancers, including the resistance mechanisms that have emerged with current ROS1 inhibitors.

    • Alexander Drilon
    • , Chelsea Jenkins
    • , Sudarshan Iyer
    • , Adam Schoenfeld
    • , Clare Keddy
    •  & Monika A. Davare
  • Research
    | Open Access

    • Jing Quan Lim
    • , Dachuan Huang
    • , Tiffany Tang
    • , Daryl Tan
    • , Yurike Laurensia
    • , Rou-Jun Peng
    • , Esther Kam Yin Wong
    • , Daryl Ming Zhe Cheah
    • , Burton Kuan Hui Chia
    • , Jabed Iqbal
    • , Nicholas Francis Grigoropoulos
    • , Maarja-Liisa Nairismägi
    • , Cedric Chuan Young Ng
    • , Vikneswari Rajasegaran
    • , Huangming Hong
    • , Seok Jin Kim
    • , Junhun Cho
    • , Eric Tse
    • , Benjamin Mow
    • , Qi-Chun Cai
    • , Li-Mei Poon
    • , Qing-qing Cai
    • , Jing Tan
    • , Jason Yongsheng Chan
    • , Johnathan Xiande Lim
    • , Yeow Tee Goh
    • , Colin Phipps
    • , Olaf Rötzschke
    • , Chee Leong Cheng
    • , Jeslin Chian Hung Ha
    • , Lay Poh Khoo
    • , Yvonne Su Ming Loh
    • , Rex Au-Yeung
    • , Thomas Sau-Yan Chan
    • , Yok-Lam Kwong
    • , William Hwang
    • , Won Seog Kim
    • , Jin-Xin Bei
    • , Tongyu Lin
    • , Choon Kiat Ong
    •  & Soon Thye Lim
    Leukemia, 1-7

News and Comment

  • Research Highlights |

    A study in Nature describes the assembly of a human genome with greater continuity than the current reference genome, as well as the assembly of a complete human X chromosome. These assemblies were achieved by combining data generated by different long-read sequencing technologies.

    • Katharine H. Wrighton
  • News and Views |

    Cellular plasticity allows tumours to adapt to and overcome therapeutic challenges. A recent study uncovered the gene regulatory networks that govern cell states and phenotype switching in melanoma, opening up possibilities to therapeutically target cell states or phenotypic plasticity to render melanoma cells more vulnerable to treatment.

    • Nicole M. Aiello-Couzo
    •  & Yibin Kang
    Nature Cell Biology 22, 913-914
  • Comments and Opinion |

    Standardized gene naming is crucial for effective communication about genes, and as genomics becomes increasingly important in health care, the need for a consistent language to refer to human genes becomes ever more essential. Here, we present the current HUGO Gene Nomenclature Committee (HGNC) guidelines for naming not only protein-coding genes but also RNA genes and pseudogenes, and we outline the changes in approach and ethos that have resulted from the discoveries of the past few decades.

    • Elspeth A. Bruford
    • , Bryony Braschi
    • , Paul Denny
    • , Tamsin E. M. Jones
    • , Ruth L. Seal
    •  & Susan Tweedie
    Nature Genetics 52, 754-758