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

Table 2.

θ values for different types of autosomal sequence (×10-4) and average fraction of bases conserved between human and mouse, human and fugu


Type of sequence

θ

Fraction conserved
Mouse Fugu
Genome-wide average 8.25
Coding 4.80 0.85 0.68
Coding, synonymous 12.50
Coding, nonsynonymous 2.50
UTR (5′ or 3′) 7.62 0.75
Intron 8.50 0.69
Inter-genic
8.30
0.69

This Article

  1. Genome Res. 15: 960-966

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