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Table 3 Relative increase in mean estimated r 2 by reference sample size (MAF 0.5–1 %)

From: A new strategy for enhancing imputation quality of rare variants from next-generation sequencing data via combining SNP and exome chip data

Genotype panel

300 to 500

500 to 700

700 to 848

SNP chip only

9.27 %

4.90 %

2.09 %

Combined (SNP + exome chip)

8.18 %

4.46 %

1.74 %