On the probability that a novel variant is a disease-causing mutation

Table 1.

Expected frequency distribution of neutral variants in humans


Frequency range

Expected fraction of neutral variants
<0.01 0.54
0.01–0.10 0.23
0.10–0.50 0.16
0.50–0.90 0.06
>0.90
0.01
  • The probability that a neutral variant has frequency between a and b is approximately C-1ln(b/a), where C is half the mean time to fixation or loss (Ewens 1974), which we have estimated as 10 for humans. Frequency of the most recently arisen allele (the derived allele) is used.

This Article

  1. Genome Res. 15: 960-966

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