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. 2015 Apr 30;11(4):e1005131. doi: 10.1371/journal.pgen.1005131

Table 1. The accuracy and minor allele concordance rate of imputed genotypes.

Population n % of 86k SNPs that are polymorphic % SNPs with any missing data Imputation method (recomb. rate source) Refer. haplo. Mean r 2 by SNP Mean minor allele concord. (%)
Thailand(THL) 91 42% 34% IMPUTE2 90 THL 0.51 31.8
(GB4x7G8) 471 ALL 0.70 66.5
IMPUTE2 90 THL 0.53 38.2
(HB3xDD2) 471 ALL 0.70 67.2
IMPUTE2 90 THL 0.56 46.1
(LDhat) 471 ALL 0.71 70.7
BEAGLE 90 THL 0.92 91.4
(map free) 471 ALL 0.27 29.0
Cambodia (CBO) 253 60% 45% IMPUTE2 252 CBO 0.77 68.8
(GB4x7G8) 471 ALL 0.87 82.5
IMPUTE2 252 CBO 0.78 73.7
(HB3xDD2) 471 ALL 0.88 83.2
IMPUTE2 252 CBO 0.84 79.1
(LDhat) 471 ALL 0.90 86.1
BEAGLE 252 CBO 0.96 92.1
(map free) 471 ALL 0.65 63.3
Gambia (GMB) 55 38% 38% IMPUTE2 54 GMB 0.99 95.4
(GB4x7G8) 471 ALL 0.99 95.2
IMPUTE2 54 GMB 0.99 95.4
(HB3xDD2) 471 ALL 0.99 95.4
IMPUTE2 54 GMB 0.99 95.4
(LDhat) 471 ALL 0.99 95.4
BEAGLE 54 GMB 0.90 87.1
(map free) 471 ALL 0.21 23.0
Malawi (MLW) 60 41% 37% IMPUTE2 59 MLW 0.34 9.5
(GB4x7G8) 471 ALL 0.25 20.2
IMPUTE2 59 MLW 0.30 9.2
(HB3xDD2) 471 ALL 0.25 20.8
IMPUTE2 59 MLW 0.69 49.0
(LDhat) 471 ALL 0.26 12.3
BEAGLE 59 MLW 0.87 85.0
(map free) 471 ALL 0.06 6.7

Accuracy is consistently high with Beagle when only population-specific haplotypes are used as references; improves with IMPUTE when a cosmopolitan reference panel is used; and is highest with IMPUTE when LDhat-inferred recombination rates are used. ALL refers to a cosmopolitan panel including populations from the listed countries (n = 459) and Vietnam (n = 12).