WHOLE GENOME SEQUENCING (WGS)
Whole Genome Sequencing (WGS) detects the complete genome sequence at one time and provides the most comprehensive collection of an individual’s genetic variation based on the human reference genome. The DNA library is whole genome sequenced (WGS) at a chosen depth based on cost, throughput and data output requirements.
Variants are unascertained, meaning that the quality of data generated is inherently unbiased towards any particular population (Martin et al., 2021, Homburger et al., 2019, Wojcik et al. 2018).
Novel, population-specific variants can be detected. These advantages are especially beneficial in non- White populations because corresponding reference data that support arrays are often lacking (Visscher et al., 2017).