Chromosomal Structural Abnormality Detection

Chromosomal Structural Abnormality Detection

Gene editing and viral vector transduction may induce large-scale chromosomal structural variants — including deletions, rearrangements, and translocations — that can activate oncogenes or inactivate tumor suppressor genes, posing significant safety risks. GeneRulor has established a multi-layered chromosomal integrity assessment platform based on second- and third-generation sequencing technologies. PEM-seq enables highly sensitive detection of chromosomal rearrangements and translocations with precise breakpoint mapping. Second-generation Long Range PCR combined with sequencing captures large-fragment deletions (from several kb to tens of kb), compensating for the blind spots of conventional short-read sequencing. Third-generation WGS leverages ultra-long read lengths to systematically identify structural variants (SVs) — including inversions, insertions, and complex rearrangements — with single-copy-level resolution. Third-generation PEM-seq further enhances the detection of exogenous sequence insertion events, revealing long-fragment integrations undetectable by short-read sequencing and their integration efficiency, enabling precise and comprehensive detection of chromosomal structural aberrations. Karyotype analysis, as the classical gold standard in cytogenetics, visualizes chromosomal number and structural abnormalities through G-banding, providing fundamental safety assurance for the product. This platform is applicable to CAR-T, TCR-T, iPSC-derived cells, gene-edited stem cells, and other cell therapy products — enabling early identification of potential genotoxic risks during R&D, guiding process optimization, and generating regulatory-compliant chromosomal integrity evidence for quality control and preclinical evaluation to effectively reduce tumorigenic risk.