Article
The abundance of deleterious polymorphisms in humans.
Genetics - 1 Apr 2012
Subramanian Sankar
Abstract excerpt
Here I show a gradual decline in the proportion of deleterious nonsynonymous SNPs (nSNPs) from tip to root of the human population tree. This study reveals that up to 48% of nSNPs specific to a single genome are deleterious in nature, which underscores the abundance of deleterious polymorphisms in humans.
Topics
- Adaptation, Biological
- Amino Acid Substitution
- Ethnicity
- Evolution, Molecular
- Gene Frequency
- Genetics, Population
- Genome, Human
- Humans
- Phylogeny
- Polymorphism, Single Nucleotide
- Time Factors