Supplementary Table 4: Percent Capture of Known Genes for OI, Marfan Syndrome and Marfanoid

Supplementary Table 4: Percent capture of known genes for OI, Marfan syndrome and Marfanoid phenotypes, at ≥10x depth per exon from unrelated sequenced samples, comparing IlluminaTruSeq to NimbleGenSeqCap EZ V2 platforms.

Known OI genes
Gene / Number of exons / IlluminaTruSeq (n=218) / NimbleGenSeqCap EZ (n=14)
COL1A1 / 51 / 89%
No capture of exon 42
Captured <90% of a further 10 exons / 81%
No capture of exon 31
Captured <90% of a further 23exons
COL1A2 / 52 / 90%
Captured <90% of 11exons / 100%
CRTAP / 7 / 63%
No capture of exon 1
Captured <90% of allexons / 86%
No capture of exon 1
LEPRE1 / 15 / 86%
Captured <90% of 3exons / 92%
Captured <90% of 2exons
FKBP10 / 11 / 72%
Captured <90% of 7exons / 73%
Captured <90% of 5 exons
SP7 / 2 / 80
Captured <90% of 1exon / 95%
Captured <90% of 1 exon
SERPINF1 / 7 / 88%
Captured <90% of 4 exons / 85%
Captured <90% of 1 exon
PPIB / 5 / 72%
Captured <90% of 3exons / 81%
Captured <90% of 1exon
PLOD2 / 20 / 70%
Captured <90% of 17exons / 95%
No capture of exon 20
SERPINH1 / 4 / 76%
Captured <90% of 2 exons / 75%
Captured <90% of 1 exon
BMP1 / 21 / 77%
Captured <90% of 12 exons / 79%
No capture of exon 1
Captured <90% of a further 8 exons
LRP5 / 24 / 63%
No capture of exon 1 and 9
Captured <90% of a further 19 exons / 66%
No capture of exon 1
Captured <90% of a further 15exons
IFITM5 / 2 / 51%
Captured <90% of exons 1 and 2 / 12%
Captured <90% of exons 1 and 2
TMEM38B / 6 / 75%
Captured <90% of 4 exons / 93%
Captured <90% of exon 1
WNT1 / 4 / 30%
Captured <90% of 4 exons / 21%
No capture of exon 1
Captured <90% of further 3 exons
MFS and Loeys-Dietz genes
Gene / Number of exons / IlluminaTruSeq (n=218) / NimbleGenSeqCap EZ (n=14)
FBN1 / 66 / 91%
Captured <90% of 19 exons / 98%
Captured <90% of 4 exons
TGFBR1 / 9 / 70%
No capture of exon1
Capture <90% for further 6 exons / 89%
No capture of exon1
TGFBR2 / 9 / 67%
Captured <90% of 5 exons / 87%
No capture of exon1