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

Rare cell populations play a pivotal role in the initiation and progression of diseases like 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 signaling and AIDS onset associated cell subsets in peripheral blood, and minimal residual disease associated populations in leukemia with frequencies as low as 0.005%.