Rxivist logo

Rxivist combines preprints from bioRxiv with data from Twitter to help you find the papers being discussed in your field. Currently indexing 64,882 bioRxiv papers from 287,592 authors.

Systematic classification of shared components of genetic risk for common human diseases

By Adrian Cortes, Calliope Dendrou, Lars Fugger, Gil McVean

Posted 23 Jul 2018
bioRxiv DOI: 10.1101/374207

Disease classification is fundamental to clinical practice, but current taxonomies do not necessarily reflect the pathophysiological processes that are common or unique to different disorders, such as those determined by genetic risk factors. Here, we use routine healthcare data from the 500,000 participants in the UK Biobank to map genome-wide associations across 19,628 diagnostic terms. We find that 3,510 independent genetic risk loci affect multiple clinical phenotypes, which we cluster into 629 distinct disease association profiles. We use multiple approaches to link clusters to different underlying biological pathways and show how these clusters define the genetic architecture of common medical conditions, including hypertension and immune-mediated diseases. Finally, we demonstrate how clusters can be utilised to re-define disease relationships and to inform therapeutic strategies.

Download data

  • Downloaded 1,169 times
  • Download rankings, all-time:
    • Site-wide: 5,699 out of 64,882
    • In genetics: 453 out of 3,681
  • Year to date:
    • Site-wide: 10,664 out of 64,882
  • Since beginning of last month:
    • Site-wide: 16,133 out of 64,882

Altmetric data


Downloads over time

Distribution of downloads per paper, site-wide


Sign up for the Rxivist weekly newsletter! (Click here for more details.)


News