Tokyo (AFP) – Imagine the body’s instruction manual, the genome: here words are genes, letters are DNA, and the equivalent of typos can have disastrous consequences.
In recent years, scientists have grown increasingly fluent in the language of genome, but much remains mysterious, including the function of many of our genes.
Discovering what these genes are for, and how they work, is key to understanding what happens when they malfunction, causing disease and sometimes death.
Now a group of scientists is harnessing a massive database of genetic information from over 140,000 people to better understand which of our genes are important, and how we might better target medicines to treat genetic disease.
The database itself is something of a landmark. Known as the Genome Aggregation Database or gnomAD (pronounced nomad), it contains over 15,000 whole genome sequences — the equivalent of a full-length instruction manual — and over 125,000 whole