Table 1.

Results from linked-read whole-exome sequencing of a trio using dried blood spots and whole-blood samples

	Whole blood				Dried blood spots
	Father	Mother	Proband	Average	Father	Mother	Proband	Average
Input DNA
Median molecule length (bp)	45,239	47,415	55,129	49,261	11,155	2425	15,643	9741
% DNA in molecules >20 kb	80	82	84	82	14	5	12	11
% DNA in molecules >100 kb	7	13	13	11	0.42	1.29	0.75	0.82
DNA loaded (ng)	1.14	1.58	1.17	1.30	0.20	0.29	0.30	0.26
GEM Performance
GEMs detected	1,472,690	1,627,223	1,450,403	1,516,772	1,236,375	1,235,548	1,124,027	1,198,650
Mean DNA per GEM (bp)	488,116	673,692	501,609	554,472	86,500	122,798	128,697	112,665
Sequencing and alignment
Number of reads	102,043,815	146,325,136	87,244,491	111,871,147	134,915,555	111,553,510	110,707,511	119,058,859
Fold coverage	66	94	56	72	77	67	61	68
Zero coverage	0.19	0.37	0.62	0.39	0.85	1.23	1.24	1.11
Median insert size (bp)	197	204	183	195	166	172	184	174
% bases on target	60	58	59	59	60	60	55	58
% fragments on target	60	59	59	59	60	60	56	59
% mapped reads	98	98	98	98	94	96	96	95
Avg. mapping quality	59	56	56	57	52	53	54	53
% duplication	17	24	28	23	40	43	45	43