Insights into rare genetic variants

A recent article in Nature reports the first findings of the UK10K project. One of the aims of this project launched in 2010 is to study rare (< 1%) and low frequency (1-5%) genetic variants in the British population using large sample sizes. The team behind the project whole-genome sequenced nearly 4,000 healthy individuals as well as 1,000 exomes from individuals who have one of eight targeted rare diseases (including neuromuscular disorders and eye malformations) or who are related to someone who does. This allowed the researchers to identify 24 million new SNVs. These discoveries have many implications. Notably, it provides insight on the association between rare genetic variants and complex traits. For example, a rare genetic variant would be linked to a form of autism. This association would not have been apparent without such large sample sizes.