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. 2020 Aug 5;14(1):204–213. doi: 10.1111/cts.12844

Figure 1.

Figure 1

Genotyping concordance with 1000 Genomes Project (1KG) sequence variant accuracy controls. (a) Heatmap concordance of 98 variants (y‐axis) with available genotype results in 1KG phase III version 5a across 32 selected reference DNA samples (x‐axis). Please note that the rs72549356 variant is not included in the figure due to this insertion/deletion variant not being called in the 1KG dataset; however, the variant was detected by genotyping in HG03166 and confirmed by Sanger sequencing (see Results). (b) Heatmap concordance of 98 variants (y‐axis) with available genotype results in 1KG phase III version 5a across 32 selected reference DNA samples (x‐axis) after 1KG/genotyping assay error corrections. Light blue: homozygous reference (concordant); medium blue: heterozygous (concordant); dark blue: homozygous alternate (concordant); pink: initially discordant genotype results between 1KG and the Agena genotyping (1KG error); and red: initially discordant genotype results between 1KG and the Agena genotyping (Agena error). See Results for discussion related to discordant genotyping correction among the 1KG accuracy controls.