Table 3  Summary of small sequence variants detected for the sequenced genotypes when compared with the reference genome
GenotypeSequenced Sample(s)Number of Small Variants With Coverage > 40%No. of These With 100% PenetranceLocation of Putative Mutation
Wild typewild type970
pro23pro23/fus1390
pro44pro4438676 variants not within coding region, one changes stop codon of SMAC_03223
fuspro23/fus and fus5451changes intron splice site of tih
  • Mutations caused by small sequence variants were identified by screening the sequence data for SNPs and indels (insertions/deletions) of <4 bases with a coverage of at least 40% of the average coverage (see Table 2) for that sample, and which occur in one sample only, or in the case of the fus mutant, in two samples (pro23/fus and fus). For these putative mutations, it was subsequently checked whether they had 100% penetrance, i.e. all the reads in the strain had the SNP/indel and none of the reads in another strain carried this specific mutation.