Getting started with analysing DNA sequencing data

I have recently entered new territory and started working on analysing DNA sequencing data (as opposed to analysing RNA sequencing, i.e. transcriptomics). While it is still the analysis of lots of sequencing reads, one of the goals is to identify disease causing mutations; this is in contrast to identifying differentially expressed genes or inferring gene networks. The new playground includes an entirely new repertoire of bioinformatic tools, file formats, and genetics that I was unaware of. While it is always fun to learn about new things, time is always a constraint. In this post, I write about some of the tools and file formats I learned about, and hopefully they will be useful for those who are getting started with analysing DNA sequencing data.

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