Preparing some genomic annotations

Mappability track

I produced a mappability track from the UCSC track. The raw file contains, for each base in the genome, an estimation of the probability that a read is correctly mapped at this position.

Using a sliding-window approach, I compute the average mappability in regions of size 1 Kbp. This is a more manageable amount of data and still informative, especially when interested in large regions (e.g. SVs).

I used a custom Perl script to efficiently parse the bedGraph-transformed original file. See the code on GitHub.

I uploaded the result there: https://dl.dropboxusercontent.com/s/i537zjs65dpw34n/map100mer-1kbp.bed.gz?dl=0.

We can cut the genome into three mappability classes:

• unique regions with high mappability estimate (>0.95).
• low-map regions with a non-null mappability but lower than 0.95.
• no-map regions with mappability 0.