Redefining copy number variation and single-nucleotide polymorphism counting via novel concepts based on recent PCR enhancements.

Abstract excerpt

Human genes have numerous copy number variations (CNVs) and single-nucleotide polymorphisms (SNPs) that control most of the body's core functions. On average, 12-16 % of human genes have CNVs, and a single gene can have a few hundred to several thousand SNPs. Numerous genome-wide association studies (GWAS) have shown that CNVs and SNPs can coexist in certain genomic regions, amplifying their effects on gene...

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