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SNPs & InDels in HuRef Autosomes

 

Across all autosomal chromosomes, the observed diversity

values for SNPs and indels are 6.15 3 104 and 0.84 3 104

respectively. When restricted to coding regions only, hSNP 1/4

3.59 3 104 and hindel 1/4 0.07 3 104, indicating that 42% of

SNPs and 91% of indels have been eliminated by selection in

coding regions. The strong selection against coding indels is

not surprising, because most will introduce a frameshift and

produce a nonfunctional protein. Our observed hSNP falls

within the range of 5.4 3 104 to 8.3 3 104 that has been

previously reported by other groups [44–47]