A single exome

In the age of 50,000+ and 60,000+ whole exome catalogues, it's hard to find processed data for a single exome. At least I had trouble trying to find a single VCF file for a single exome from one individual. After searching for a while, I gave up and decided to generate one myself. This post...

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Basic Shiny app to fetch variant information

I created a basic Shiny app that uses the myvariant package to fetch variant information from MyVariant.info. The variants need to be represented in the format recommended by the Human Genome Variation Society. Once you have your variant of interest in the correct format, just hit "Get variant info!" and the annotations will appear on...

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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...

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Getting started with GEMINI

After getting started and getting acquainted with DNA sequencing data, it's finally time to explore DNA variation. A tool that makes this easy is GEMINI and this post briefly demonstrates some of its functionality. I have only used GEMINI sparingly and what I know about the tool is gathered mostly from their documentation and tutorials....

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