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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
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BMC Medical Genetics

ISSN: 1471-2350

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