Mutation Detection
We are going to tell you what’s wrong!
Structural variants (SVs) are a hallmark of the genomic instability that underlies cancer and other diseases, include translocations, large deletions, amplifications, and inversions. The accurate and timely detection of cancer associated mutations, including structural variants, is important for patient management, from early detection to monitoring for cellular relapse, as well as predicting outcome of treatment. Detection of all cancer associated mutations is complicated by the low tumor cellularity often present in tumor samples and biopsies due to contaminating normal cells
If there’s a mutation, we’ll find it !
Additionally, 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 long-read nature (up to 20 kb) of nanopore sequencing allows us to read through repetitive regions. Even with long mate-pair sequencing at deep coverage, 2nd generation methods’ short-read sequences prohibit accurate and efficient mapping of repetitive regions, which often house SVs.
advanced ai powered analysis
The technology we use is not only helpful for mutation detection in cancers, but also in different genetic diseases where genetic alterations’ detection is useful early on in life. Newborn genetic diseases’ screening is extremely important, so as to take the necessary steps regarding treatments and lifestyle modifications necessary for leading a healthy life for the newborn. Our solution does not only involve sequencing the disease-causing genes, but also using artificial intelligence for prediction of the severity of the disease, and generating an understandable, easy-to-look-at report which helps physicians understand and properly treat different genetic diseases, because we deliver extremely fast and accurate results, because especially in cancer, time is gold.
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