Extended Data Fig. 3: Benchmark of TOPMed imputation accuracy across the allele frequency spectrum. | Nature Genetics

Extended Data Fig. 3: Benchmark of TOPMed imputation accuracy across the allele frequency spectrum.

From: Rare variant analyses in 51,256 type 2 diabetes cases and 370,487 controls reveal the pathogenicity spectrum of monogenic diabetes genes

Extended Data Fig. 3

The average percentage of carriers of variants identified in Monogenic Diabetes whole-exome sequencing in Goodrich et al.8 identified with imputation in a subset of 40 K UKB samples. The y-axis represents the average proportion of carriers identified among variants with imputation INFO > 0.8 in the imputed data from TOPMed vs HRC-1000G-UK10K (original UKB imputation release). The x-axis represents the different allele frequency bins. MAF, minor allele frequency; MAC, minor allele count.

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