Open AccessThe Abundance of Deleterious Polymorphisms in Humans
Author(s) -
Sankar Subramanian
Publication year - 2012
Publication title -
genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.792
H-Index - 246
eISSN - 1943-2631
pISSN - 0016-6731
DOI - 10.1534/genetics.111.137893
Subject(s) - biology , nonsynonymous substitution , genetics , single nucleotide polymorphism , genome , population , abundance (ecology) , evolutionary biology , gene , genotype , ecology , demography , sociology
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.
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