Scrambling in the Tree of Life

Self-supervised learning of genome-rearrangement patterns from pairwise whole-genome alignments.

OIST · 2026 – present

As genomes diverge they rearrange: inversions, translocations, duplications, fissions and fusions. This project asks whether a self-supervised model can learn a meaningful geometry of these rearrangements directly from alignment structure, without labelled topologies. Supervised by Prof. Nicholas Luscombe and Dr. Charles Plessy.

Approach

  • Data. Each pairwise whole-genome alignment becomes a 5D point cloud of aligned blocks: genomic coordinates, strand and alignment quality.
  • Model. A Set Transformer models interactions between blocks, and Pooling by Multihead Attention maps each variable-size set to one embedding.
  • Objective. VICReg: invariance across views, variance against collapse, covariance to decorrelate dimensions.
  • Scale. PyTorch DDP on 4× A100 GPUs on OIST’s Saion cluster, with BF16, Flash Attention and torch.compile.

Status

Ongoing. I am currently testing whether the learned clusters reflect genomic topology rather than domain identity.