Exome sequencing helped the fine diagnosis of two siblings afflicted with atypical Timothy syndrome (TS2)

BMC Medical Genetics

Table 1 Summary statistics for exome sequencing

	All reads	# mapped reads	# uniquely mapped reads	# non-redundant uniquely mapped reads	# non-redundant reads uniquely mapped in targeted regions	Average sequencing depth in target regions
Father	215,270,552	212,495,384	207,507,067	88,105,506	49,357,904	100.29
Mother	218,495,007	215,280,440	210,261,330	84,480,091	47,828,952	97.15
Son	217,253,295	214,298,717	209,188,980	85,277,852	47,758,981	96.87
Daughter	218,048,872	214,904,784	209,988,667	89,229,385	49,872,405	101.19
Mean	217,266,932	214,244,831	209,236,511	86,773,209	48,704,561	98.88
sd	1,426,571	1,234,435	1,239,520	2,258,488	1,072,618	2.19

ISSN: 1471-2350