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Table 1 Carrier frequencies for select super-populations in the 1000 Genomes dataset

From: Validation of a high resolution NGS method for detecting spinal muscular atrophy carriers among phase 3 participants in the 1000 Genomes Project

Superpopulation (subpopulations)

Number of Samples

Number of Carriers (P(carrier) > 1/2)

Carrier frequency, pObs (95 % exact CI)

Published carrier frequency, p0 (95 % CI)

P-value

(H0: pObs = p0)

Caucasian (CEU, FIN, GBR, IBS, TSI)

503

13

0.026 (0.014 , 0.044)

0.022 (0.020, 0.024)

0.543

Black (ACB, ASW, ESN, GWD, LWK, MSL, YRI)

661

4

0.006 (0.002, 0.015)

0.014 (0.009, 0.018)

0.095

Asian (CDX, CHB, CHS, JPT, KHV)

502

6

0.012 (0.004, 0.026)

0.020 (0.016, 0.024)

0.261

Hispanic (MXL, PUR, CLM)

261

6

0.023 (0.009, 0.049)

0.012 (0.006, 0.017)

0.140

Asian Indian (GIH, ITU, STU, BEB, PJL)

489

3

0.006 (0.001, 0.018)

0.020 (0.010, 0.029)

0.022

All

2501

36

0.01 (0.010, 0.020)

0.019 (0.018, 0.020)

0.138