Research Article

The Number of Candidate Variants in Exome Sequencing for Mendelian Disease under No Genetic Heterogeneity

Table 2

The expected number of SNVs after filtering in dominant disease using unrelated individuals.






/ : 100% / : 90% / : 80% / :
100% ( )
0% ( )
/ :
100% ( )
0% ( )
/ :
≥80% ( )
0% ( )
/ :
≥80% ( )
0% ( )
/ :
≥80% ( )
≤20% ( )

119999.50
212221.92 7777.58 7777.58
39333.10 2888.82
47761.71 1317.43 1571.39
56751.15 11803.94 1010.56
104450.20 7292.89 9899.74 12.68 284.27 487.69
114209.42 240.77 1325.27
133821.65 180.60 111.07
202992.04 6220.39 8915.41 0.01 87.51 28.51
212911.32 80.72 944.79
232767.09 69.48 45.77
501808.56 5540.39 8311.92 19.82 0.02
511789.36 736.85
531752.68 21.74
1001249.75 5306.36 8108.38