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.

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Latest Research and Reviews

  • Research
    | Open Access

    • Laura Godfrey
    • , Nicholas T. Crump
    • , Sorcha O’Byrne
    • , I-Jun Lau
    • , Siobhan Rice
    • , Joe R. Harman
    • , Thomas Jackson
    • , Natalina Elliott
    • , Gemma Buck
    • , Christopher Connor
    • , Ross Thorne
    • , David J. H. F. Knapp
    • , Olaf Heidenreich
    • , Paresh Vyas
    • , Pablo Menendez
    • , Sarah Inglott
    • , Philip Ancliff
    • , Huimin Geng
    • , Irene Roberts
    • , Anindita Roy
    •  & Thomas A. Milne
    Leukemia, 1-17
  • Reviews |

    Telomere length is maintained by telomerase, which comprises a reverse transcriptase and a template RNA. Telomerase activity is disrupted in several genetic disorders, but is commonly increased in cancer. Recent studies have uncovered many regulatory mechanisms of telomerase and how telomerase upregulation in cancer is achieved.

    • Caitlin M. Roake
    •  & Steven E. Artandi
  • Research
    | Open Access

    Pladsen et al. develop Copy Aberration Regional Mapping Analysis (CARMA), an algorithm that derives motifs for copy number profiles in breast cancers by integrating several features, to predict breast cancer prognosis and stratifications. Their algorithm can detect replication and repair defects and can be used in personalized medicine.

    • Arne V. Pladsen
    • , Gro Nilsen
    • , Oscar M. Rueda
    • , Miriam R. Aure
    • , Ørnulf Borgan
    • , Knut Liestøl
    • , Valeria Vitelli
    • , Arnoldo Frigessi
    • , Anita Langerød
    • , Anthony Mathelier
    • , Tone F. Bathen
    • , Elin Borgen
    • , Anne-Lise Børresen-Dale
    • , Olav Engebråten
    • , Britt Fritzman
    • , Øystein Garred
    • , Jürgen Geisler
    • , Gry Aarum Geitvik
    • , Solveig Hofvind
    • , Vessela Kristensen
    • , Rolf Kåresen
    • , Anita Langerød
    • , Ole Christian Lingjærde
    • , Gunhild Mari Mælandsmo
    • , Bjørn Naume
    • , Hege G. Russnes
    • , Kristine Kleivi Sahlberg
    • , Torill Sauer
    • , Helle Kristine Skjerven
    • , Ellen Schlichting
    • , Therese Sørlie
    • , Olav Engebråten
    • , Vessela Kristensen
    • , David C. Wedge
    • , Peter Van Loo
    • , Carlos Caldas
    • , Anne-Lise Børresen-Dale
    • , Hege G. Russnes
    •  & Ole Christian Lingjærde
  • Research
    | Open Access

    Around half of the heritability underpinning familial high-grade serous ovarian carcinoma remains unidentified. Here, the authors show that extremely rare protein encoding loss-of-function variants, with a high degree of genetic heterogeneity, may account for some of this missing heritability.

    • Deepak N. Subramanian
    • , Magnus Zethoven
    • , Simone McInerny
    • , James A. Morgan
    • , Simone M. Rowley
    • , Jue Er Amanda Lee
    • , Na Li
    • , Kylie L. Gorringe
    • , Paul A. James
    •  & Ian G. Campbell
  • Research
    | Open Access

    Vitamin D is a precursor of the steroid hormone 1,25-dihydroxyvitamin D3, and its deficiency is associated with many adverse health outcomes. Here, Revez et al. perform a genome-wide association study for circulating 25-hydroxyvitamin D in 417,580 individuals and test for potential causal relationships with other traits using Mendelian randomization.

    • Joana A. Revez
    • , Tian Lin
    • , Zhen Qiao
    • , Angli Xue
    • , Yan Holtz
    • , Zhihong Zhu
    • , Jian Zeng
    • , Huanwei Wang
    • , Julia Sidorenko
    • , Kathryn E. Kemper
    • , Anna A. E. Vinkhuyzen
    • , Julanne Frater
    • , Darryl Eyles
    • , Thomas H. J. Burne
    • , Brittany Mitchell
    • , Nicholas G. Martin
    • , Gu Zhu
    • , Peter M. Visscher
    • , Jian Yang
    • , Naomi R. Wray
    •  & John J. McGrath

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