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Table 1 Summary of samples used in validation experiments with known variants as reported by Coriell

From: Analytical validation of whole exome and whole genome sequencing for clinical applications

Sample Sex Known variants Note
NA12878 F Heterozygous CYP2C19 c.681G > A (rs4244285)  
NA12891 M Homozygous CYP2C19 c.681G > A (rs4244285) Father to NA12878
NA12892 F N/A Mother to NA12878
NA10080 M Heterozygous PTEN c.781C > T  
NA18507 M N/A