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

By Eirini Arvaniti, Manfred Claassen. 2016

170 citations recorded by the source corpus.

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%. While rare cell subpopulations frequently make the difference between health and disease, their detection remains a challenge. Here, the authors devise CellCnn, a representation learning approach to detecting such rare cell populations from high-dimensional single cell data, and, among other examples, demonstrate its capacity for detecting rare leukaemic blasts in minimal residual disease.

Subfields: Biophysics, Molecular Biology

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In Biophysics

  1. Malte D. Luecken
  2. Fabian J Theis

In Molecular Biology

  1. Malte D. Luecken
  2. Fabian J Theis

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