Table 1 Summary of SUDI cases and their parents and results of sequencing analysis.

Trio No	Subject	Age	Sex	Total aligned reads	Total aligned bases	Targeted aligned reads	Mean region coverage depth	Target coverage at 20X (%)
1	Case	3 M	Female	12,491,263	1,494,300,281	10,542,312	85	82
	Father	–	–	21,352,420	3,069,189,175	14,139,830	124.2	96.9
	Mother	–	–	15,157,248	2,148,307,197	10,561,623	91.9	94.1
2	Case	1Y8M	Female	14,318,515	1,727,573,727	10,812,331	86.6	88.4
	Father	–	–	18,296,664	2,543,663,623	12,035,904	101.2	96.4
	Mother	–	–	20,837,322	2,915,885,754	13,477,515	113.9	95.5
3	Case	3 M	Female	14,482,070	2,037,650,595	9,811,216	84.8	93.8
	Father	–	–	17,437,111	2,451,099,641	11,825,077	101.7	95.6
	Mother	–	–	17,211,772	2,432,468,086	11,476,012	99.2	95.1
4	Case	3 M	Female	20,731,617	2,981,575,844	14,700,318	129.4	97
	Father	–	–	17,000,730	2,364,257,419	12,397,912	106.9	95.7
	Mother	–	–	14,574,427	2,070,845,131	10,579,807	92.6	94.7
5	Case	4 M	Female	16,762,916	2,344,786,584	10,088,104	85.6	95.3
	Father	–	–	17,644,526	2,424,775,119	11,695,666	100.4	92.1
	Mother	–	–	22,127,138	2,971,368,392	15,889,907	134.2	95.4
6	Case	2Y	Male	16,932,684	2,353,138,678	10,368,292	87.6	95.8
	Father	–	–	15,497,810	2,083,213,340	10,775,295	92.5	79.7
	Mother	–	–	23,474,057	3,265,426,029	16,050,903	136.9	96.8
7	Case	6 M	Male	18,961,926	2,635,964,881	11,983,786	100.7	96.2
	Father	–	–	19,247,261	2,676,991,782	12,048,382	101.9	95.5
	Mother	–	–	14,468,867	2,009,952,449	8,700,560	75.2	80.2

Quick links

Search