Position Enrichment Test
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Entering edit mode
8.0 years ago

Hi,

I've several samples, each of it containing multiple genomic position of interest. Which statistical test can I use to assess enrichment of specific genomic regions ?

For example here three sample with 3 position

A    B    C
100    100    100
200    300    300
1000    500    2000


So here 100 is a position that is enriched .

Thanks

enrichment test position • 1.7k views
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I guess it depends on what you're comparing against to determine enrichment. What's the genesis of these numbers? Is the background distribution of positions assumed to be random?

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these positions are fusion event positions

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8.0 years ago

Many folks in this situation would use simple thresholds for "enrichment" since the background (null hypothesis) is not well understood. In your data, for example, one might argue that even two samples sharing a position would constitute "enrichment", such as position 300. In the context of NGS data, many fusion event detection algorithms have problems with a high false-positive-rate, so even after filtering for recurrence, there may be further filters that need to be applied (uniqueness of region, mapping quality, coverage of individual fusion events, split-read support, etc.).