Your 'normal' genome carries about 216 broken genes — and that is normal

What does a healthy genome actually look like? Researchers at the University of Exeter mined sequencing data from more than 900,000 people in the US All of Us programme and the UK Biobank to find out — and the answer is reassuringly messy. The typical person differs from the reference genome at about 4.4 million positions, carries at least 216 variants predicted to damage protein function, and holds one to three rare variants classed as disease-causing — mostly carrier status for conditions they will never develop. 'Everybody does have rare, deleterious, disease-causing variation in their genomes,' said corresponding author Professor Caroline Wright. Published in Genome Medicine, the study gives doctors a long-missing baseline: a variant is only alarming against a picture of what normal looks like — and normal, it turns out, is gloriously imperfect.

SDG 3 · Good health and well-being — Mechanism: tech innovation