High-end interpretation
of whole-genome sequences

With proprietary technology and pioneering research,
we are capable of revealing the genomic foundation for human diseases.

(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.

  • #WGS #Cancer #Lung cancer #Genomic rearrangements Lee JJ et al., Cell (2019)

    Tracing oncogene rearrangements in the mutational history of lung adenocarcinomas. (Link)

    We explored 138 whole-genomes of lung cancer.
    We revealed when and how driver fusion genes are acquired.

  • #organoids #COVID-19 #Single-cell #Infection model

    Youk J et al., Cell Stem Cell (2020) Three-dimensional human alveolar stem cell culture models reveal infection response to SARS-CoV-2.(Link)

    We infected our lung organoid to SARS-CoV-2 (COVID-19 virus) and observed the viral infection process of human alveolar cells.

  • #WGS #Rare disease #Somatic mosaicism

    Lee JS et al., J Allergy Clin Immunol (2020) Germline gain-of-function mutation of STAT1 rescued by somatic mosaicism in IPEX-LD.(Link)

    We identified somatic mosaicism in STAT1 gene that may be the cause of IPEX-LD, a combined immunodeficiency and autoimmune disorder.

  • #Tool #Mutational Signature

    Lee J et al., Nucleic Acids Res (2018) Mutalisk: a web-based somatic MUTation AnaLyIS toolkit for genomic, transcriptional and epigenomic signatures.(Link)

    We developed a user-friendly online tool that can analyze signatures of somatic mutations.

  • #Single-cell RNA-seq #COVID-19 #Immunology

    Lee JS et al., Science Immunology (2020)(Link) Immunophenotyping of COVID-19 and influenza highlights the role of type I interferons in development of severe COVID-19.

    Single-cell RNA sequencing of blood immune cells revealed type I interferon–associated hyper-inflammation in severe COVID-19.

  • #WGS #Longitudinal #Lung cancer #Clonal Evolution

    Lee J-K et al., J Clin Oncol (2017)(Link) Clonal history and genetic predictors of transformation into small-cell carcinomas from lung adeocarcinomas.

    We revealed the course of clonal evolution during lung cancer targeted therapy and its predictive biomarker

  • #WGS #Somatic mosaicism

    Ju YS et al., Nature (2017)(Link) Somatic mutations reveal asymmetric cellular dynamics in the early human embryo.

    We revealed somatic mutations acquired during early human embryogenesis and further tracked cellular dynamics using the mutations.

  • #RNA-seq #WGS #Fusion oncogene

    Ju YS et al., Genome Res (2012)(Link) A transforming KIF5B and RET gene fusion in lung adenocarcinoma revealed from whole-genome and transcriptome sequencing.

    We were the first to reveal KIF5B-RET gene fusion, a oncogenic event in lung adenocarcinoma.

  • #WGS #Rare disease #Somatic mosaicism

    Ju YS et al., Nature Genetics (2010)(Link) Extensive genomic and transcriptional diversity identified through massively parallel DNA and RNA sequencing of eighteen Korean individuals.

    We combined DNA and RNA-sequencing data from 18 individuals. We standardized the procedure for exome and RNA-seq analyses.

  • #WGS #Korean #Somatic mosaicism

    Kim J.-I. et al., Nature (2009)(Link) A highly annotated whole-genome sequence of a Korean individual.

    We completed whole-genome sequencing of a Korean individual. Our combinatorial approach allowed detailed characterization of genetic variants in a whole-genome scale.

  • Targeted sequencing vs Whole-genome sequencing

    Targeted sequencing only identifies a fraction of mutations.
    It provides a greater depth of information for genes of interest at the
    expense of signature analysis reliability.

    Whole-genome sequence (WGS) reveals all genetic aberrations
    (mutation types, base substitutions, copy number changes, and structural variants), thereby permitting mutation signature detection.