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

Table 5

The expected number of SNVs after filtering in recessive disease using full-sibs.

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	4722.10	—	—	1944.40	1944.40	—	—	—
3	3958.23	—	—	—	763.87	—	—	—
4	3628.38	—	—	434.02	329.85	—	—	—
5	3476.48	—	4236.01	—	151.91	—	—	—
10	3337.59	3381.12	3578.15	5.37	4.35	—	—	200.19
11	3335.42	—	—	—	2.17	122.91	—	—
13	3333.79	—	—	—	0.54	—	31.16	—
20	3333.25	3334.14	3359.51	0.00	0.00	—	—	14.26
21	3333.25	—	—	—	0.00	13.13	—	—
23	3333.25	—	—	—	0.00	—	3.28	—
50	3333.25	3333.25	3333.30	—	0.00	—	—	0.02
51	3333.25	—	—	—	—	0.03	—	—
53	3333.25	—	—	—	—	—	0.01	—
100	3333.25	3333.25	3333.25	—	—	—	—	—