Tumor-associated structural variants are
complicated when they occur in repetitive
regions, which account for over half of the
human genome. The ability of the sequencing
technologies we use, to read through repetitive
regions could make it an ideal tool for detecting
tumor-associated structural variants. The longread nature (up to 20 kb) of third generation
sequencing allows us to read through repetitive
regions. Even with long mate-pair sequencing at
deep coverage, 2nd generation methods’ shortread sequences prohibit accurate and efficient
mapping of repetitive regions, which often house
SVs. After sequencing, we perform AI-enhanced
analysis to give you an insight towards all
mutations present in the targeted gene, we
generate an AI-enhanced report with full list of
benign, potentially pathogenic, and pathogenic
mutations, along with mutations that can be
targeted by genomic drugs. We also provide the
possibility to store mutations linked to
individuals, in order to provide better genetic
counselling for offspring and map the mutations
throughout the entire family tree, and also map
mutations throughout the entire country to
provide basis for GWAS studies.