Table 2. Data analysis for family RP1459.

Chromosome	Length	Coverage	QR	QS	Genes	Disease	Concordance with phenotype of affected patients
1	12	118	34.97	412.6
1	24	2	11.26	2.2
1	16	89	38.93	346.4	SDCCAG8	Nephronophtisis	Non-concordant
2	25	98	37.73	369.7	C2ORF71	RP, CRD	Concordant
					ZNF513	RP	Concordant
2	8	90	25.79	232.1
2	7	4	26.47	10.5
2	6	95	0	0
2	14	88	24.08	211.9
2	9	106	39.54	419.1
3	5	6	15.62	9.3
4	6	116	28.98	336.1
4	21	101	35.18	355.3
4	44	91	3.33	30.3
5	5	22	2.72	5.9
5	10	84	39.42	331.1	VCAN	Wagner	Non-concordant
5	7	128	34.29	438.9
6	11	101	29.95	302.5
6	48	95	40.58	385.5	ELOVL4	MD	Non-concordant
6	7	114	40.5	461.7
7	13	129	25.97	335
7	6	69	27.64	190.7
8	5	105	21.17	222.2
8	6	15	0	0
8	31	101	39.96	403.5
9	31	1	34.21	3.42
10	40	92	13.06	120.1
10	18	90	23.14	208.2	CDH23	Usher syndrome	Non-concordant
10	16	99	35.73	353.7	OAT	Gyrate atrophy	Non-concordant
11	17	99	6.74	66.7
12	87	96	33.02	316.9	BBS10	BBS	Non-concordant
					CEP290	LCA, SLS, JS	Non-concordant
					COL2A1	Sticker, Wagner	Non-concordant
					RDH5	FA, CD	Non-concordant
12	20	75	3.58	26.8
13	11	114	32.4	369.3
15	20	95	0.26	2.47
16	11	106	28.4	301
16	13	5	11.94	5.9
17	13	42	21.06	88.4	USH1G	Usher syndrome	Non-concordant
					PRCD	RP	Concordant
					PDE6G	RP	Concordant
18	32	89	27.6	245.6
18	10	119	6.85	81.5
19	9	12	24.32	29.1
19	8	55	2.02	11.1

Abbreviations: BBS, Bardet Biedl syndrome; CD, cone dystrophy; CRD, cone rod dystrophy; FA, fundus albipunctatus; JS, Joubert syndrome; LCA, Leber congenital amaurosis; MD, macular dystrophy; QR, qualifying rate (percentage of qualifying SNPs/total number of SNPs); QS, qualifying score (coverage × QR/10); RP, retinitis pigmentosa; SLS, senior loken syndrome; Stickler, Stickler syndrome; Wagner, Wagner disease.

Length is in Mb; coverage is the average number of SNPs/Mb.

The line in bold contains the causative gene (see Results).