Supplementary Table 1: Summary statistics for osteogenesis imperfecta samples run on Illumina/TruSeq exome platform.
SKDP
-2.3
SKDP7.3
SKDP51.3
SKDP102.3
SKDP103.3
SKDP104.3
SKDP105.3
SKDP106.3
SKDP107.3
SKDP108.3
SKDP109.3
SKDP110.3
SKDP111.3
Mean
values
Total
bases
43221
69007
2943688
726
5377213
112
7827529
198
7946199
918
6118083
419
6951388
476
6084091
514
7016858
278
7013343
201
7379180
536
6757440
625
7270923
935
6385239
227
Bases on
target
exons (+/200bp)
34398
18848
2405344
044
4214459
406
6067921
367
6166443
709
4783419
969
5450673
655
4763327
369
5490113
820
5472997
441
5679134
179
5224247
648
5655405
395
4985638
988
Bases on
target
exons
23153
06654
1647906
016
2882731
701
4136363
858
4207253
846
3260161
526
3723264
055
3248204
409
3756871
178
3743565
297
3877501
898
3566571
860
3860743
457
3402034
289
% bases
on target
exons (+/200bp)
80
82
78
78
78
78
78
78
78
78
77
77
78
78
% bases
on target
exons
54
56
54
53
53
53
54
53
54
53
53
53
53
53
Target
exon
median
base
coverage
33
26
42
55
56
43
50
43
51
50
52
48
51
46
Target
exon
mean
base
coverage
38
28
43
61
62
48
55
47
56
55
57
53
57
51
% target
exon
bases
with
coverage
>1
95
94
95
93
93
93
93
93
93
94
94
94
94
94
% target
exon
bases
with
coverage
>5
91
88
91
89
89
88
89
88
89
90
90
90
90
89
% target
exon
bases
with
coverage
>10
85
79
87
86
86
85
86
85
86
87
87
87
87
86
% target
exon
bases
with
coverage
77
68
83
83
83
81
83
81
83
84
84
84
84
81
>15