Evaluation of whole exome sequencing as an alternative to BeadChip and whole genome sequencing in human population genetic analysis.

ABSTRACT:

Background

Understanding the underlying genetic structure of human populations is of fundamental interest to both biological and social sciences. Advances in high-throughput genotyping technology have markedly improved our understanding of global patterns of human genetic variation. The most widely used methods for collecting variant information at the DNA-level include whole genome sequencing, which remains costly, and the more economical solution of array-based techniques, as these are capable of simultaneously genotyping a pre-selected set of variable DNA sites in the human genome. The largest publicly accessible set of human genomic sequence data available today originates from exome sequencing that comprises around 1.2% of the whole genome (approximately 30 million base pairs)

SUBMITTER: Maroti Z 

PROVIDER: S-EPMC6206721 | biostudies-literature | 2018 Oct

REPOSITORIES: biostudies-literature