Testing for an Unusual Distribution of Rare Variants (original) (raw)
Figure 2
The distribution of recurrent, low frequency non-synonymous variants.
In (A) 100 high and 100 low extremes of triglyceride levels drawn from the Malmo Diet and Cancer Study – Cardiovascular Arm in APOB and (B) 350 cases of Crohn's disease and 350 controls collected by the NIDDK IBD Genetics Consortium in NOD2, identified from pooled data and then individually genotyped. The background (gray) represents the binomial probability distribution while the foreground (red points) shows observed data from NOD2 and APOB sequencing, in which, for example, APOB (A) the n = 3 row indicates three observed variants, one seen in 3 cases and 0 controls, one seen in 2 cases and 1 control, and one seen in 0 cases and 3 controls.