Table 1.

Characteristics of case cohorts. Benchmark cohort, 119 cases total. Validation cohort, 60 cases total. Grand total, 179 cases

	Assay type		Variant type		Proband sex		Pedigree Type
Mode of inheritance	WGS	WES	SNV/Indel	SV	Male	Female	Single	Duos	Trios
Benchmark cohort
Autosomal dominant	70	11	66	15	36	45	35	6	40
Autosomal recessive	27	–	23	4	14	13	9	1	17
X-linked dominant	6	–	5	1	1	5	2	–	4
X-linked recessive	5	–	5	–	5	–	2	1	2
Sub-totals	108	11	99	20	56	63	48	8	63
Validation cohort
Autosomal dominant	3	34	37	–	10	27	15	2	20
Autosomal recessive	1	14	15	–	5	10	9	–	6
X-linked dominant	1	5	6	–	3	3	1	3	2
X-linked recessive	–	2	2	–	2	–	1	–	1
Sub-totals	5	55	60	0	20	40	26	5	29