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. Author manuscript; available in PMC: 2015 Mar 12.
Published in final edited form as: JAMA. 2014 Mar 12;311(10):1035–1045. doi: 10.1001/jama.2014.1717

Figure 3. Genotype Concordance Between Whole-Genome Sequencing Platforms in 12 Participants Sequenced in the Genomic Medicine Application Pilot Project.

Figure 3

A, Genotype concordance for all variant positions. B, Genotype concordance for variants in protein-coding regions. C, Genotype concordance for candidate inherited disease risk variants. Concordant refers to sequence variants with the same alleles and zygosity (ie, homozygous calls in both platforms) called by both platforms; discordant, refers to sequence variants called by both platforms but with different alleles or zygosity; and not called, sequence variants identified using the Illumina platform for which no variant genotype call was made by the Complete Genomics platform.