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