MVA Rare Disease Hackathon 2026

SageBio’s Rare Disease, Real Kid hackathon gives every entrant the same case: the whole genome of one child with mosaic variegated aneuploidy, a disorder in which cells gain and lose chromosomes as they divide. Track 1 asks for the causal genotype. Working on the University of Leeds AIRE cluster, I annotated the genome with Ensembl VEP 116, AlphaMissense and SpliceAI, then filtered a 17-gene panel of mitotic-checkpoint genes down to rare, functional variants.

Only one gene carried two of them, so I submitted that pair as a single row. The gated genome stayed on the cluster throughout. On 12 September 2026 the organisers’ scorer returned a full match: 100 of 100 rank points and an F-max of 1.000, on the first of six allowed submissions.