Table 2.

Mutation detection rate for ID in selected studies

Reference	Vissers Lelm et al., 2010 [23]	De Ligt et al., 2012 [18]	Rauch et al., 2012 [15]	DDD study, 2015 [11]	DDD study et al., 2017 [2]	Wright et al., 2018 [21]
Number of patients analysed (n)	10	100	51	1133	148	1133
Method applied	Trio WES	Trio WES	Trio WES	Trio WES	Trio WES	Trio WES
Detection rate (%)	60	16	45–55	27	31	40–43

WES whole exome sequencing