whole-genome sequencing

Whole-genome sequencing means reading essentially all of an individual's DNA, not just the gene-coding fraction. It is the most complete genetic snapshot of a person available today — the entire instruction set, coding and non-coding regions alike.

Compared with exome sequencing, which reads only protein-coding parts, whole-genome sequencing also covers the vast non-coding majority: regulatory switches, introns, and the long stretches between genes. This lets it detect variants that exome sequencing would miss, including changes in gene-control regions and large structural rearrangements.

The cost of whole-genome sequencing has fallen dramatically, making it increasingly common in research and medicine. The harder problem now is interpretation: most of us carry millions of variants, the vast majority harmless, and telling a meaningful change apart from background noise still requires careful analysis and, often, comparison with large reference databases.