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

From: Federated analysis of autosomal recessive coding variants in 29,745 developmental disorder patients from diverse populations

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

  1. aFor some GIA sub-groups, there were no reference samples in the same cluster (Extended Data Fig. 2), so we give only the GIA groups label for these.
  2. bIndicates the seven GIA sub-groups included in the overall attributable fraction calculations given throughout the text, in Figs. 1 and 2, Extended Data Figs. 47 and Supplementary Figs. 8 and 12. FROH, fraction of the genome in runs of homozygosity.