Genetic Diagnosis of Charcot-Marie-Tooth Disease in a Population by Next-Generation Sequencing

Table 3

Sequence capture performance results and variant identification among 70 affected patients.

		Average	Standard deviation	Min	Max
Coverage	Coverage, all regions^1	515.5	105.1	77.1	828.7
	% Base ≥ 2x coverage, all regions^1	99.0	0.001	98.6	100.0
	% Base ≥ 30x coverage, all regions^1	97.7	0.007	93.5	99.2
Variant identification	Variants in all regions^1	202	18.2	163	241
	Variants in all regions^1 after filtering^2	11	3.2	6	21
	Nonsynonymous variants in exons^2	3	1.4	1	7
	Synonymous variants in exons^2	3	1.0	2	6
	Variants in ± 10 bp intron, 3′UTR and 5′UTR variants^2	5	2.7	2	14

1All regions = exons ± 10 bp intron sequence, 3′UTR and 5′UTR.
²Filtering against presence in ≥1% of dbSNP135 or 1000 genomes and presence in ≥4 in-house unrelated controls.
bp = base pair; UTR = untranslated region.