I've ~150,000 genomic position that seems to be clustered in specific genomic regions (hotspot). However these "hotspots" may have different sizes (from very small ~ 10,000bp to very large ~500,000bp - bp = base pair). Could someone give me some advice to detect such peaks ? My idea was to use a small window-based approach and to find adjacent small-windows were the number of positions are significantly higher than random (using simulation).

Here's an subset of my data focuses on a portion of one chromosome. The top panel shows each individual genomic positions of interest (one vertical bar represents one site). The bottom panel shows the density computed using ggplot's stat_density using adjust=0.001 and bw=1000. I manually added the the red lines to show the information I want to extract from such data. An important point would be to extract only peak region that are more dense than by chance. I was thinking to perform a simulation were I randomly distribute 150,000 genomic sites and computes a kind of background density in order to compare with my real data. Any advice ?

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Edit : I add the same plot with 5 random set of genomic sites (same size as the real dataset). My idea is to extract these region over the background.

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  • $\begingroup$ You could compute the kernel density of the physical position of your markers. That way you could detect the peaks by using the baseline density as a comparison point. $\endgroup$ – Riff Dec 12 '16 at 9:07
  • $\begingroup$ Ok so in R use density() on the data. But how estimate the baseline density ? $\endgroup$ – Nicolas Rosewick Dec 12 '16 at 9:16
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    $\begingroup$ What is "density" in genomic data? Can you define it? $\endgroup$ – Anony-Mousse Dec 13 '16 at 3:08
  • $\begingroup$ Density=region where the number of positions is higher than expected by chance $\endgroup$ – Nicolas Rosewick Dec 13 '16 at 7:11
  • $\begingroup$ For the baseline density you could perhaps use a Poisson null model? (This could give a "p value" then ... but is there a standard way to do this in your field?) $\endgroup$ – GeoMatt22 Apr 28 '17 at 1:22

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