Table 1.
Dataset | Sample size | Platform | The number of autosomal variants |
---|---|---|---|
GEM-J WGA | 7609 | WGS | 92,311,243 |
JGA-NGS | 125 | WES | 4,561,009 |
JGA-SNP | 183,884 | SNP array | 1,236,461 |
ToMMo 8.3KJPN | 8380 | WGS | 91,462,814 |
HGVD v2.3 | 1208 | WES | 539,980 |
JPN_UNION | 201,206 | 116,006,352 |
JPN_UNION included no duplicates in the number of autosomal variants, while it included duplicates in the sample size. More than half of the GEM-J WGA samples overlapped with ToMMo 8.3KJPN. Quality filters for variant calling defined for each dataset were not considered (i.e., all detected variants were counted). Additionally, multiallelic variants were decomposed into two or more monoallelic variants and considered as separate variants.