We have validated Onco LifePipe® by analyzing two dataset with
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%.