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

Table 3

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

𝑁	𝑁𝑎=𝑁			𝑁𝑎=𝑁/2; 𝑁𝑐=𝑁/2	𝑁𝑎=𝑁−1; 𝑁𝑐=1	𝑁𝑎=𝑁−1; 𝑁𝑐=1	𝑁𝑎=𝑁−3; 𝑁𝑐=3	𝑁𝑎=𝑁/2; 𝑁𝑐=𝑁/2
	𝐴𝐴: 100%	𝐴𝐴: 90%	𝐴𝐴: 80%	𝐴𝐴: 100% (𝑎); 0% (𝑐)	𝐴𝐴: 100% (𝑎); 0% (𝑐)	𝐴𝐴: ≥80% (𝑎); 0% (𝑐)	𝐴𝐴: ≥80% (𝑎); 0% (𝑐)	𝐴𝐴: ≥80% (𝑎); ≤20% (𝑐)
1	6666.50	—	—	—	—	—	—	—
2	3333.25	—	—	3333.25	3333.25	—	—	—
3	2222.17	—	—	—	1111.08	—	—	—
4	1666.63	—	—	555.54	555.54	—	—	—
5	1333.30	—	2999.93	—	333.33	—	—	—
10	666.65	1407.37	2240.68	5.29	74.07	—	—	203.70
11	606.05	—	—	—	60.60	422.55	—	—
13	512.81	—	—	—	42.73	—	41.83	—
20	333.33	1054.55	1863.36	0.00	17.54	—	—	11.86
21	317.45	—	—	—	15.87	276.10	—	—
23	289.85	—	—	—	13.17	—	15.73	—
50	133.33	843.18	1637.71	—	2.72	—	—	0.01
51	130.72	—	—	—	—	199.84	—	—
53	125.78	—	—	—	—	—	6.80	—
100	66.67	772.77	1562.62	—	—	—	—	—