Skip to main content
Figure 3 | BMC Genomics

Figure 3

From: Evaluation and optimisation of indel detection workflows for ion torrent sequencing of the BRCA1 and BRCA2 genes

Figure 3

Proposed workflows for highly sensitive and specific indel detection from PGM data. BAM files were generated by read alignment of PGM sequencing outputs using either TMAP-TS3.4 (blue) or BWA (red). SAMtools was used to call indels. This was followed by a post-indel calling filtering using QDth and VARWth. An independent confirmation of called indel was performed using Sanger sequencing. The numbers of indels called by each step were specified.

Back to article page