Appendix 4 of Singh, Mol Vis 2016; 22:1036-1047.


Appendix 4. Split-read alignment analysis.

To access the data, click or select the words “Appendix 4.” By split read alignment of the sequence reads, we could detect the precise breakpoints in the RB1 gene in 2 out of 6 deletions. In the sample RB6, for the identified deletion (c.719–2574_1127+678delinsC), the break points were: 2574 bp upstream (chr13:4893377) of exon 8 (5′ break-point) and the 3′ break-point was mapped to 678 bp downstream (chr13:48943418) of exon11 of the RB1 gene (A). The identified deletion in the sample RB6, was confirmed by Sanger sequencing (B). In the sample RB31, for the identified deletion [c.2643_(*1915+3849)del], the break points were: 21 bases (chr13:49050959) at 3′ end of exon 25 and complete deletion of exon 26 and exon 27 and the 3′ break-point was mapped to 3849 bp (chr13:49059971) downstream of 3′UTR of the RB1 gene (C). The identified deletion in the sample RB31, was confirmed by Sanger sequencing (D).