We have validated Onco LifePipe® by analyzing two dataset with different mutations.
The first dataset was InSilico data containing 15 mutations among the most common mutated genes in myelodisplasic syndromes. Each mutation was insertedwith variable allele frequencies. The second dataset corresponds to Illumina shared data, sequenced with Cancer Hotspot panel on MiSeq system. These samples have 12 to 44 variants with median allele frequency of 8%.
Firstly, on in silico data, we showed that the association of complementary variant callers improves the detection of all variant types (SNP, insertion or deletion). Moreover, we observed that sequencing conditions (depth and error rate) can have a limited impact on variant detection, depending on the variant calling tool. On Illumina public data, we confirmed Onco LifePipe® robustness for somatic driver variants detection including subclonal variants until an allele frequency of 1%.