Sensitive detection of rare disease-associated cell subsets via representation learning.

Journal: Nature communications
PMID:

Abstract

Rare cell populations play a pivotal role in the initiation and progression of diseases such as cancer. However, the identification of such subpopulations remains a difficult task. This work describes CellCnn, a representation learning approach to detect rare cell subsets associated with disease using high-dimensional single-cell measurements. Using CellCnn, we identify paracrine signalling-, AIDS onset- and rare CMV infection-associated cell subsets in peripheral blood, and extremely rare leukaemic blast populations in minimal residual disease-like situations with frequencies as low as 0.01%.

Authors

  • Eirini Arvaniti
    Institute for Molecular Systems Biology, Department of Biology, ETH Zurich, Auguste-Piccard-Hof 1, Zurich 8093, Switzerland.
  • Manfred Claassen
    Internal Medicine I, University Hospital Tübingen, Faculty of Medicine, University of Tübingen, Tübingen, Germany.