Abstract
Background Characterizing genetic diversity is crucial for reconstructing human evolution and for understanding the genetic basis of complex diseases; however, human population genetics are very complicated. Previously, we proved that based on the Hardy-Weinberg equilibrium, the heterozygous vs. non-reference homozygous single nucleotide polymorphism (SNP) ratio (het/nonref-hom) is two [1]. Later, we found that this ratio is race dependent, with African being the most genetically diverse race and Asian being the most homozygous [2]. This observation prompted us to conduct further study to understand the reasoning behind this diversity.
Highlights
Characterizing genetic diversity is crucial for reconstructing human evolution and for understanding the genetic basis of complex diseases; human population genetics are very complicated
Materials and methods Using the 1000 Genomes Project (1000G) released genomic data of 2504 individuals (26 races from five majorraces), we first computed the ratio which has been applied as a quality control parameter for sequencing data [1,3]
The resulting population structure is consistent with the major geographical regions
Summary
Characterizing genetic diversity is crucial for reconstructing human evolution and for understanding the genetic basis of complex diseases; human population genetics are very complicated. We proved that based on the Hardy-Weinberg equilibrium, the heterozygous vs non-reference homozygous single nucleotide polymorphism (SNP) ratio (het/nonref-hom) is two [1]. We found that this ratio is race dependent, with African being the most genetically diverse race and Asian being the most homozygous [2]. This observation prompted us to conduct further study to understand the reasoning behind this diversity
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