DNA sequencing is increasingly being used in medicine, but doctors can have trouble making sense of the data. Now sequencing machine manufacturer Illumina has announced that it will integrate software into its desktop sequencing platform to assist physicians with that task. The most interesting aspect of the analysis tool may be its ability to share, which could be key to unlocking the real promise of genomics in medicine.
Every person's genome is full of variations—research estimates that the genomes of any two people differ at around three million positions—but most of these differences, called variants, are harmless. But some variants cause disease, and others contribute to the likelihood of disease. When a variant is suspected to affect health, doctors can turn to the scientific literature for clues, but they may not find any useful information there, or they may find data on entire populations that may not apply to an individual patient.