Table 1.
List of the reference panel datasets.
| Dataset name (human genome assembly) | Description | Data access level |
|---|---|---|
| 1KGP_ALL (GRCh37) | A reference panel consisting of unrelated subjects of diverse ancestries (N = 2504) from the 1000 Genomes Project (phase 3, version 5). The X-chromosome is included. | Publicly available |
| 1KGP_EAS (GRCh37) | A reference panel consisting of unrelated subjects of East Asian ancestries (N = 504) from the 1000 Genomes Project (phase 3, version 5). The X-chromosome is included. | Publicly available |
| 1KGP_ALL (GRCh38) | A reference panel consisting of unrelated subjects of diverse ancestries (N = 2548) from the 1000 Genomes Project (30x on GRCh38). The X-chromosome is not included. | Publicly available |
| 1KGP_EAS (GRCh38) | A reference panel consisting of unrelated subjects of East Asian ancestries (N = 508) from the 1000 Genomes Project (30x on GRCh38). The X-chromosome is not included. | Publicly available |
| BBJ1K + 1KGP_ALL (GRCh37) | A reference panel consisting of the BioBank Japan subjects of Japanese ancestry (N = 1037) and the 1000 Genomes Project (phase 3, version 5) subjects of diverse ancestries (N = 2504). In total, N = 3541. The X-chromosome is not included. | Controlled access |
| BBJ1K + 1KGP_EAS (GRCh37) | A reference panel consisting of the BioBank Japan subjects of Japanese ancestry (N = 1037) and the 1000 Genomes Project (phase 3, version 5) subjects of East Asian ancestries (N = 504). In total, N = 1541. The X-chromosome is not included. | Controlled access |
1KGP denotes the 1000 Genome Project, BBJ1K the BioBank Japan subjects of Japanese ancestry (N = 1037), EAS East Asian.