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Machine learning maps disease-linked, sequence-sensitive DNA

In a preprint, researchers built CAMBUS, a machine-learning method that models how DNA changes may affect whether genes can turn on in a cell. Across 29 immune cell types, it found 66,043 regions especially sensitive to sequence disruption, often overlapping DNA that evolution appears to preserve.

This can help researchers focus on non-coding DNA changes that may alter gene activity in particular cells. CAMBUS connected 1,533 possible causal variants across 70 complex traits to cell-specific regulatory regions, including links involving immune cells. The connections identify candidates for study, not proven causes.

✦ Sequence-sensitive DNA regions can help researchers narrow the search for disease mechanisms.

References
  1. [1]bioRxiv (preprint) ↗