Table 9.
Studies evaluating the prevalence of rare pharmacogenetic variants.
| Study | Cohort size | Populations | Number of loci | Sequencing method | Exonic SNVs | Intronic SNVs |
|---|---|---|---|---|---|---|
| (Nelson et al., 2012) | 14,002 | 3 global populations | 2002 | Targeted sequencing | 39,647 | 11,177 |
| (Mizzi et al., 2014) | 482 | 12 global populations | 231 | WGS | 26,807 in exons andproximal regulatorysequences | 382,157 in intronsand surrounding regions |
| (Gordon, et al., 2014) | 6503 | 2 global populations | 12 CYP genes | WES & WGS | 1006 | Not analyzed |
| (Fujikura et al., 2015) | 6503 | 2 global populations | Human CYP genefamily (57 genes) | WES & WGS | 4254 | 1911 |
| (Bush et al., 2016) | 5639 | 5 populations from the US | 82 | Targeted sequencing | 13,194 | 5231 |
| (Kozyra et al., 2017) | 6503 | 5 global populations | 146 | WES | 12,152 | 7176 |
| (Han et al., 2017) | 376 | Koreans | 122 | Targeted sequencing | 4573 | 1079 |
| (Ahn & Park, 2017) | 12,844 | 5 global populations | 48 | WES | Around 9550 | Not analyzed |
| (Zhou & Lauschke, 2018) | 5076 | Ashkenazi Jews | 17 | WES & WGS | 327 | Not analyzed |
| (Wright, Carleton, Hayden, & Ross, 2018) | 2504 | 26 global populations | 120 | WGS | 12,084 | |
| (Ingelman-Sundberg et al., 2018) | 60,706 | Global | 208 | WES | 69,923 | Not analyzed |
| (Zhang & Lauschke, 2018) | 138,632 | 7 global populations | Human SLCO genefamily (11 genes) | WES & WGS | 9811 | 3877 |