Table 1.

Summary of detected variants in each family cohort

NGS strategy	Number of studies	Solved cases	% diagnosis
WES	83	29	35%
Large families	8	6	75%
Sibling couple	15	3	20%
Trio	26	8	31%
Sporadic cases	34	12	35%
WGS	12*	1	8%
Total	83	30	36%

^*Cases with no pathogenic variants were identified by WES