First Studies From The Largest-Ever Human Genome Database Released
BBC Earth|November - December 2020
The Genome Aggregation Database has collected 15,708 genomes and 125,748 exomes (the protein-coding part of the genome) to help shed light on how genetic mutations can lead to disease
Daniel Macarthur 
HOW DID THE GENOME AGGREGATION DATABASE (GNOMAD) PROJECT START?

I started my lab in Boston back in 2012. At that time, one of the first projects we launched was to begin sequencing DNA from patients affected by severe muscle diseases like muscular dystrophy.

What became clear was that we desperately needed better databases of normal variation [in genomes] to make sense of the genetic changes that we were seeing in these patients. Imagine if you sequenced the DNA from a patient, and you find a new genetic change there. You need to know whether or not that is a really rare genetic change that is disease-causing, or whether it’s actually prevalent in the population, in which case it’s almost certainly not responsible for that patient’s disease.

So, we set about beginning to build a new database of human genetic variation by taking advantage of a whole bunch of other studies that had been done at the time. These were starting to pull together DNA sequencing data for a whole variety of different common adult-onset disorders, things like type 2 diabetes and heart disease.

HOW DO YOU COLLECT THE DATA?

We don’t actually generate the data ourselves. The gnomAD Project team are data parasites: we take advantage of the data that’s been generated by others when they agree to contribute that data to our project. We can then do the challenging process of pulling that data together and aggregating it and cleaning it up and then producing this big shared database that can be released to the rest of the world. It is, I think, a testament to the overall generosity of the human genomics community that we’ve been able to pull together such an extensive resource through that approach.

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