Table 2.

Summary of overall output and filtered variants for the performed trio-Whole exome sequencing experiments.

Trio	% 10X reads	% 20X reads	Number of variants	LoF/Missense	Compound heterozygous	Homozygous variants	De novo variants
Proband 1	96.55	91.72	116,189	858	33 (14 genes)	3	6
Mother	96.86	93.01	117,082
Father	97.37	91.84	115,855
Proband 2	96.78	92.52	123,862	1005	48 (20 genes)	9	12
Mother	97.21	91.60	123,725
Father	98.37	95.71	123,111
Proband 3	96.34	86.23	121,215	847	54 (23 genes)	16	8
Mother	97.65	93.36	121,163
Father	97.45	92.79	122,161
Proband 4	97.37	93.12	125,668	885	70 (23 genes)	5	3
Mother	97.24	93.95	126,700
Father	97.26	92.61	124,454

% 10X reads, percentage of nucleotide positions covered by at least 10 reads after application of filtering and fragments de-duplication procedures; % 20X reads, percentage of nucleotide positions covered by at least 20 reads after application of filtering and fragments de-duplication procedures; LoF, Loss of Function.