deleterious mutation

Subramanian S 2011 High proportions of deleterious polymorphisms in constrained human genes. Mol Biol Evol 28:49-52.

• genome-wide estimates using >14,000 human-chimp nuclear genes and 1 million SNPs from four human genomes showed a significant proportion of deleterious nonsynonymous SNPs (~15%)
• this study reveals a negative correlation between the magnitude of selection pressure and the proportion of deleterious SNPs on human genes