Table 5. Comparison of the methodological approaches in recent publications that have used high throughput next generation sequencing for retinal disease diagnosis.

Authors [Reference]	Detecting phenotypes	Library preparation		NGS instrument	Number of independent samples tested	Pathogenic mutation identified (%)
		Gene number	Method
Bowne et al [8]	adRP	46	PCR amplicons	454GS FLX Titanium (Roche) & GAIIx (Illumina)	21	5 (24%)
Simpson et al [9]	RP	45	Solid phase customised capture array (NimbleGen)	GAIIx (Illumina)	5	3 (60%)
Coppieters et al [11]	LCA	16	PCR amplicons	GAIIx (Illumina)	17	3 (18%)
Neveling et al [12]	RP	111	Solid phase customised capture array (NimbleGen)	454GS FLX Titanium (Roche)	100	36 (36%)
Audo et al [10]	RD	254	Liquid phase targeted SureSelect capture (Agilent)	GAIIx (Illumina)	13	7 (54%)
O'Sullivan et al [13]	RD	105	Liquid phase targeted SureSelect capture (Agilent)	SOLiD 4 (Life Technologies)	50	21 (42%)
Shanks et al [14]	RP & CRD	73	Solid phase customised capture array (NimbleGen)	454GS FLX Titanium (Roche)	36	9 (25%)
Watson et al [This paper]	RD	162 (Retnet, July 2010)	Liquid phase targeted SureSelect capture (Agilent)	GAIIx (Illumina)	20	12 (60%)

adRP = autosomal dominant retinitis pigmentosa; CRD = cone rod dystrophy; LCA = leber congenital amaurosis;

RD = retinal dystrophies; RP = retinitis pigmentosa.