(1) Leading-edge bioinformatics accurately analyze and interpret whole-genome sequences. All types of somatic and germline mutations can be comprehensively revealed within a predictable timeframe. The ability to work with whole-genome marks the pinnacle of genome technology, as opposed to the currently widespread ‘quick-and-light’ genome techniques such as exome or targeted sequencing (*). We are equipped with standardized protocols for the majority of analyses that have been established over the last 15 years. With our expertise, we are continuously expanding and building on an unprecedented scale of clinical/whole-genome database for selected target diseases. Upon request, we would be glad to further optimize and/or newly develop bioinformatic protocols for unvisited tasks!
(2) Innovative organoid techniques enable long-term culture of patient-derived primary tissues (both cancer and non-cancer) in a chemically defined medium (in vitro). We are establishing, experimenting, and banking patient-derived organoid models within our in house facility. We are an official partner of HUB Organoids (https://huborganoids.nl), with our organoids cultured under their license. The latest protocols are actively reflected in our work through international collaboration with HUB Organoids and renowned researchers around the world.
(3) User-friendly tools provided for patients, clinicians and industries. Whole-genome datasets are absolutely heavy (at least 100Gb per sample, frequently peta-byte scale per project), and are not feasible for non specialists to obtain insights without interactive analytic tools supported by graphical user interface, user-friendly genome browsers and medically annotated reports. The weight and complexity of the data itself necessitates advanced analytics, thus we are actively simplifying these technical components for commercial access.
Below are 10 selected publications representing key capabilities of GENOME INSIGHT.
We explored 138 whole-genomes of lung cancer.<br>We revealed when and how driver fusion genes are acquired.
We infected our lung organoid to SARS-CoV-2 (COVID-19 virus) and observed the viral infection process of human alveolar cells.
We identified somatic mosaicism in STAT1 gene that may be the cause of IPEX-LD, a combined immunodeficiency and autoimmune disorder.
We developed a user-friendly online tool that can analyze signatures of somatic mutations.
Single-cell RNA sequencing of blood immune cells revealed type I interferon–associated hyper-inflammation in severe COVID-19.
We revealed the course of clonal evolution during lung cancer targeted therapy and its predictive biomarker
We revealed somatic mutations acquired during early human embryogenesis and further tracked cellular dynamics using the mutations.
We were the first to reveal KIF5B-RET gene fusion, a oncogenic event in lung adenocarcinoma.
We combined DNA and RNA-sequencing data from 18 individuals. We standardized the procedure for exome and RNA-seq analyses.
We completed whole-genome sequencing of a Korean individual. Our combinatorial approach allowed detailed characterization of genetic variants in a whole-genome scale.