Identification of deleterious mutations within three human genomes

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Figure 2.
Figure 2.

Characteristics of deleterious mutations. (A) Deleterious mutations (n = 1928) are more likely to occur in recently duplicated genes relative to neutral variants (n = 8287). (B) Mutations at perfectly conserved sites, mutations that cause radical amino acid changes, defined by BLOSUM62 ≤ −2, and mutations to amino acids that are not observed outside of eutherian mammals are more frequent among rare (n = 807) compared with common deleterious mutations (n = 1121).

This Article

  1. Genome Res. 19: 1553-1561

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