Genetics

Definition

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.

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Latest Research and Reviews

  • Reviews |

    This Review describes our current understanding of the relationship between genotype and phenotype in myelodysplastic syndromes/myeloproliferative neoplasms (MDS/MPN) and discusses how this knowledge could be used to inform strategies to develop more effective treatments and improve clinical success.

    • Michael W. N. Deininger
    • , Jeffrey W. Tyner
    •  & Eric Solary
    Nature Reviews Cancer 17, 425–440
  • Research | | open

    Viruses play an important role in microbial communities but, due to limitations of available techniques, our understanding of viral diversity is limited. Here, the authors use SVGs and identify highly abundant viruses in marine communities that have been previously overlooked.

    • Francisco Martinez-Hernandez
    • , Oscar Fornas
    • , Monica Lluesma Gomez
    • , Benjamin Bolduc
    • , Maria Jose de la Cruz Peña
    • , Joaquín Martínez Martínez
    • , Josefa Anton
    • , Josep M. Gasol
    • , Riccardo Rosselli
    • , Francisco Rodriguez-Valera
    • , Matthew B. Sullivan
    • , Silvia G. Acinas
    •  & Manuel Martinez-Garcia
  • Research | | open

    Osteosarcoma is a primary malignancy of bone that affects children and adults. Here, the authors sequence childhood and adult osteosarcomas, identifying mutations in insulin-like growth factor signalling genes and distinct genomic rearrangement profiles characterized by chromothripsis-amplification.

    • Sam Behjati
    • , Patrick S. Tarpey
    • , Kerstin Haase
    • , Hongtao Ye
    • , Matthew D. Young
    • , Ludmil B. Alexandrov
    • , Sarah J. Farndon
    • , Grace Collord
    • , David C. Wedge
    • , Inigo Martincorena
    • , Susanna L. Cooke
    • , Helen Davies
    • , William Mifsud
    • , Mathias Lidgren
    • , Sancha Martin
    • , Calli Latimer
    • , Mark Maddison
    • , Adam P. Butler
    • , Jon W. Teague
    • , Nischalan Pillay
    • , Adam Shlien
    • , Ultan McDermott
    • , P. Andrew Futreal
    • , Daniel Baumhoer
    • , Olga Zaikova
    • , Bodil Bjerkehagen
    • , Ola Myklebost
    • , M. Fernanda Amary
    • , Roberto Tirabosco
    • , Peter Van Loo
    • , Michael R. Stratton
    • , Adrienne M. Flanagan
    •  & Peter J. Campbell
  • Research | | open

    Isolated populations often have special genetic compositions that can be leveraged for genetic association studies. Here, Xue and colleagues generate and analyse 3,059 low-depth whole-genome sequences from eight European isolated populations and two matched general populations.

    • Yali Xue
    • , Massimo Mezzavilla
    • , Marc Haber
    • , Shane McCarthy
    • , Yuan Chen
    • , Vagheesh Narasimhan
    • , Arthur Gilly
    • , Qasim Ayub
    • , Vincenza Colonna
    • , Lorraine Southam
    • , Christopher Finan
    • , Andrea Massaia
    • , Himanshu Chheda
    • , Priit Palta
    • , Graham Ritchie
    • , Jennifer Asimit
    • , George Dedoussis
    • , Paolo Gasparini
    • , Aarno Palotie
    • , Samuli Ripatti
    • , Nicole Soranzo
    • , Daniela Toniolo
    • , James F. Wilson
    • , Richard Durbin
    • , Chris Tyler-Smith
    •  & Eleftheria Zeggini

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