Medical genomics

Definition

Medical genomics is the application and integration of genomic and other data—including functional genomics, genome structure, genome-scale population genetics, epigenomics, proteomics, systems analysis and pharmacogenomics—to better understand the genetic bases of drug response and disease.

Latest Research and Reviews

  • Reviews |

    Including diverse populations in genomic studies has the potential to improve the use of genomic data in the clinic. Here, members of the National Human Genome Research Institute review the benefits of increasing diversity, the challenges to overcome and key recommendations for how to achieve this goal.

    • Lucia A. Hindorff
    • , Vence L. Bonham
    • , Lawrence C. Brody
    • , Margaret E. C. Ginoza
    • , Carolyn M. Hutter
    • , Teri A. Manolio
    •  & Eric D. Green
  • Research | | open

    The detection of structural variants can be difficult with short-read sequencing technology, especially when variants are highly complex. Here, the authors use a MinION nanopore sequencer to analyse two patient genomes and develop NanoSV to map known and novel structural variants in long read data.

    • Mircea Cretu Stancu
    • , Markus J. van Roosmalen
    • , Ivo Renkens
    • , Marleen M. Nieboer
    • , Sjors Middelkamp
    • , Joep de Ligt
    • , Giulia Pregno
    • , Daniela Giachino
    • , Giorgia Mandrile
    • , Jose Espejo Valle-Inclan
    • , Jerome Korzelius
    • , Ewart de Bruijn
    • , Edwin Cuppen
    • , Michael E. Talkowski
    • , Tobias Marschall
    • , Jeroen de Ridder
    •  & Wigard P. Kloosterman
  • Research | | open

    Maturity-onset diabetes of the young (MODY) is the most common subtype of familial diabetes. Here, Patel et al. use targeted DNA sequencing of MODY patients and large-scale publically available data to show that RFX6 heterozygous protein truncating variants cause reduced penetrance MODY.

    • Kashyap A. Patel
    • , Jarno Kettunen
    • , Markku Laakso
    • , Alena Stančáková
    • , Thomas W. Laver
    • , Kevin Colclough
    • , Matthew B. Johnson
    • , Marc Abramowicz
    • , Leif Groop
    • , Päivi J. Miettinen
    • , Maggie H. Shepherd
    • , Sarah E. Flanagan
    • , Sian Ellard
    • , Nobuya Inagaki
    • , Andrew T. Hattersley
    • , Tiinamaija Tuomi
    • , Miriam Cnop
    •  & Michael N. Weedon

News and Comment