Pharmacogenomics in Children: Advantages and Challenges of Next Generation Sequencing Applications

Table 1

Genomic variation in an individual in numbers. All data is given for an individual exome or genome. The number of nonsynonymous variants, which induce a change in amino acid, has been specified as these are more likely to have a functional effect than synonymous variants (where the amino acid remains the same despite the nucleotide change), although functional synonymous variants have been described.

	Number of variants
Similarity between two individual genomes	99.5%
Whole genome sequencing variant uptake	3,5 million SNP variants; 1000 large CNVs
Whole exome sequencing variant uptake	20.000–100.000 variants
Coding variants in the genome	20.000–25.000 variants
Nonsynonymous coding variants in the genome	9.000–11.000 variants