Long deletion signatures in repetitive genomic regions track somatic evolution and enable sensitive detection of microsatellite instability Deficiency in the mismatch repair system (MMRd) causes microsatellite instability (MSI) in cancers and determines eligibility for immunotherapy. Here, we show that MMRd tumours harbour long-deletion s...

Thrilled to share our discovery of novel long-deletion signatures—key markers for tracking #MMRd #CancerEvolution, even in low-pass (~0.1X) FFPE samples with low purity. This was made possible with our tool, MILO, as named by @trevorgraham.bsky.social. Our preprint: www.biorxiv.org/content/10.1...