Exploring the UK10K variants

It has been almost two months since my last post; I have been occupied with preparing a fellowship application (which has been sent off!) and now I'm occupied with preparing and writing papers. Sadly, I've pushed blogging right down the priority list, even though it's one of the things I enjoy doing the most. This post is on exploring the variants that were discovered as part of the UK10K project. For the uninitiated, the UK10K project was a massive undertaking that aimed to characterise human genetic variation within the UK population by using whole exome (WES) and genome sequencing (WGS). The WGS arm sequenced healthy individuals (n=3,781) that were part of longitudinal studies and the WES arm sequenced individuals (n=5,294 and 5,182 passing QC) with rare diseases, severe obesity, and neurodevelopmental disorders. It's not quite 10K, but it's still an impressive number for now, since the 100,000 Genomes Project has already reached 7,306 genomes:

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