Table 1 Sample sizes and average autozygosity for the 22 GIA sub-groups included in the analyses after removing probands with cross-continental admixture. The counts for all GIA sub-groups are shown in Supplementary Table 2. Note that DDD samples from these GIA sub-groups were excluded if there were fewer than 100 unrelated, unaffected parents in DDD
GIA sub-group | Closest corresponding reference population | Number of unrelated probands | Number of unrelated, unaffected parents | Average FROH for probands | ||||
|---|---|---|---|---|---|---|---|---|
DDD | GeneDx | Combined | DDD | GeneDx | DDD | GeneDx | ||
AFR3 | West African | − | 96 | 96 | − | 232 | − | 0.0013 |
AFR4b | African-American | − | 843 | 843 | − | 2,109 | − | 0.0003 |
AMR0b | Mexican | − | 1,178 | 1,178 | − | 2,674 | − | 0.0017 |
AMR3 | Puerto Rican | − | 380 | 380 | − | 894 | − | 0.0027 |
AMR4 | Latin Americana | − | 204 | 204 | − | 511 | − | 0.0029 |
AMR9 | Colombian | − | 260 | 260 | − | 745 | − | 0.0028 |
EAS1 | East Asiana | − | 65 | 65 | − | 205 | − | 0.0003 |
EAS2 | Chinese | − | 295 | 295 | − | 732 | − | 0.0008 |
EAS3 | East Asiana | − | 128 | 128 | − | 348 | − | 0.0007 |
EAS5 | Vietnamese/Cambodian | − | 89 | 89 | − | 245 | − | 0.0010 |
EUR1 | Europeana | − | 657 | 657 | − | 1,694 | − | 0.0021 |
EUR3 | Europeana | − | 125 | 125 | − | 512 | − | 0.0005 |
EUR4b | Western European | 7,057 | 12,489 | 19,546 | 12,997 | 26,016 | 0.0005 | 0.0004 |
EUR5b | Eastern European | 208 | 1,577 | 1,785 | 459 | 3,909 | 0.0008 | 0.0002 |
EUR6 | Europeana | − | 38 | 38 | − | 200 | − | 0.0001 |
EUR7 | Italian | 118 | 1,412 | 1,530 | 294 | 3,620 | 0.0010 | 0.0005 |
MDE2 | Middle Easterna | − | 79 | 79 | − | 149 | − | 0.0468 |
MDE3b | Middle Easterna | 87 | 571 | 658 | 157 | 1,114 | 0.0351 | 0.0335 |
MDE4 | Middle Easterna | − | 87 | 87 | − | 167 | − | 0.0347 |
SAS3 | Bangladeshi | 80 | 109 | 189 | 125 | 242 | 0.0185 | 0.0082 |
SAS4b | Pakistani | 467 | 454 | 921 | 577 | 832 | 0.0539 | 0.0298 |
SAS5b | Indian | 100 | 492 | 592 | 187 | 1,019 | 0.0185 | 0.0108 |
Total (all GIA sub-groups) | 8,117 | 21,628 | 29,745 | 14,796 | 48,169 | 0.0044 | 0.0027 | |
Total (seven GIA sub-groups in Fig. 1) | 7,919 | 17,604 | 25,523 | 14,377 | 37,673 | 0.0043 | 0.0026 | |