Evaluation of whole exome sequencing as an alternative to BeadChip and whole genome sequencing in human population genetic analysis.
Zoltán MarótiZsolt BoldogkőiDóra TombáczMichael SnyderKalmár TiborPublished in: BMC genomics (2018)
Our results draw attention to some of the inherent problems that arise from using pre-selected SNP sets for population genetic analysis. Additionally, we demonstrate that exome sequencing provides a better alternative to the array-based methods for population genetic analysis. In this study, we propose a strategy for unbiased variant collection from exome data and offer a bioinformatics protocol for proper data processing.