Table 1.
Detailed information of 27 reference populations used in this study.
| Populations | Abbreviations | Continents | Sample sizes | Sources |
|---|---|---|---|---|
| African Caribbean in Barbados | ACB | Africa | 96 | 1000 genomes project phase 3 |
| African Ancestry in Southwest USA | ASW | Africa | 61 | 1000 genomes project phase 3 |
| Esan in Nigeria | ESN | Africa | 99 | 1000 genomes project phase 3 |
| Gambian in Western Division, Mandinka | GWD | Africa | 113 | 1000 genomes project phase 3 |
| Luhya in Webuye, Kenya | LWK | Africa | 99 | 1000 genomes project phase 3 |
| Mende in Sierra Leone | MSL | Africa | 85 | 1000 genomes project phase 3 |
| Yoruba in Ibadan, Nigeria | YRI | Africa | 108 | 1000 genomes project phase 3 |
| Colombian in Medellin, Colombia | CLM | America | 94 | 1000 genomes project phase 3 |
| Mexican ancestry in Los Angeles, California | MXL | America | 64 | 1000 genomes project phase 3 |
| Peruvian in Lima, Peru | PEL | America | 85 | 1000 genomes project phase 3 |
| Puerto Rican in Puerto Rico | PUR | America | 104 | 1000 genomes project phase 3 |
| Chinese Dai in Xishuangbanna, China | CDX | East Asia | 93 | 1000 genomes project phase 3 |
| Han Chinese in Beijing, China | CHB | East Asia | 103 | 1000 genomes project phase 3 |
| Southern Han Chinese, China | CHS | East Asia | 105 | 1000 genomes project phase 3 |
| Japanese in Tokyo, Japan | JPT | East Asia | 104 | 1000 genomes project phase 3 |
| Kinh in Ho Chi Minh City, Vietnam | KHV | East Asia | 99 | 1000 genomes project phase 3 |
| Utah residents with Northern and Western European ancestry | CEU | Europe | 99 | 1000 genomes project phase 3 |
| Finnish in Finland | FIN | Europe | 99 | 1000 genomes project phase 3 |
| British in England and Scotland | GBR | Europe | 91 | 1000 genomes project phase 3 |
| Iberian populations in Spain | IBS | Europe | 107 | 1000 genomes project phase 3 |
| Toscani in Italy | TSI | Europe | 107 | 1000 genomes project phase 3 |
| Gujarati Indian in Houston, TX, USA | GIH | South Asia | 103 | 1000 genomes project phase 3 |
| Indian Telugu in the UK | ITU | South Asia | 102 | 1000 genomes project phase 3 |
| Punjabi in Lahore, Pakistan | PJL | South Asia | 96 | 1000 genomes project phase 3 |
| Sri Lankan Tamil in the UK | STU | South Asia | 102 | 1000 genomes project phase 3 |
| Bengali in Bangladesh | BEB | South Asia | 86 | 1000 genomes project phase 3 |
| Chinese Kazak | XJK | From China | 510 | Our lab |