Tumor mutational burden (TMB) refers to the total number of somatic gene mutations (including point mutations, insertions/deletions, etc.) per million base pairs in a tumor genome. It quantifies the degree of mutation in tumor cells.

Simply put, a higher TMB indicates a higher number of abnormal proteins (neoantigens) produced by tumor cells. These neoantigens are more likely to be recognized as "foreign" by the body's own immune system (T cells), triggering a more robust immune attack. When immunotherapies such as PD-1/PD-L1 inhibitors are used to remove tumor suppression of immune cells, patients with high TMB tumors are more likely to achieve favorable treatment outcomes and durable clinical responses.

Microsatellite instability (MSI) refers to a phenomenon in which microsatellite lengths change during cell division due to defects in the DNA mismatch repair (MMR) system. Microsatellites are short tandem repeats (typically 1-6 base pairs) that are ubiquitous throughout the genome. Normally, errors during DNA replication are promptly corrected by the MMR system. However, when MMR genes (such as MLH1, MSH2, MSH6, and PMS2) are mutated or silenced, errors accumulate, leading to variations in microsatellite lengths and the MSI phenotype.

Compared to traditional invasive prenatal diagnostic techniques (such as amniocentesis and chorionic villus sampling), NIPT requires only 10 mL of maternal venous blood, completely avoiding the risks of intrauterine infection and miscarriage associated with the procedure (with a risk of approximately 0.5-1%). Therefore, it is more easily accepted by pregnant women and offers significant advantages such as being non-invasive, safe, and with zero miscarriage risk. It has become a widely used first-line prenatal screening option worldwide.

NGS-HLA typing uses high-throughput sequencing technology to sequence the entire HLA gene, achieving high-resolution and high-accuracy typing. Compared to traditional methods (such as PCR-SSO, PCR-SSP, and Sanger sequencing), NGS can cover the entire HLA gene region, including exons, introns, and untranslated regions, providing more comprehensive genetic information.

NGS Cell Authentication Services utilize high-throughput sequencing technology to perform deep sequencing of the entire genome or targeted regions of a cell sample. By comparing and analyzing sequence information, NGS enables precise identification of cell species, species of origin, and tissue type, as well as detection of microbial contamination (such as mycoplasma). It not only confirms whether a cell is the expected type but also reveals its unique genetic background and stability at a deeper level, serving as a "genetic ID card" that ensures the reliability of experimental data and production safety.

In the era of precision medicine, monoclonality analysis has become a core tool for hematologic malignancy diagnosis, therapeutic efficacy monitoring, and immunology research. With the maturity of next-generation sequencing (NGS) technology, NGS-based monoclonality analysis services are gradually replacing traditional methods. With their unprecedented sensitivity, quantitative capabilities, and high throughput, they provide stronger technical support for clinical and scientific research. This article will provide an in-depth analysis of the working principles, standardized workflow, and wide-ranging application scenarios of NGS-based monoclonality analysis.

Next-generation sequencing (NGS) technology has become a core tool in modern life science and medical research, widely used in fields such as genomics, transcriptomics, and epigenetics. However, the generation of NGS data is complex and multi-step, and the stability and reliability of its results directly impact the accuracy of scientific conclusions. Therefore, systematic stability analysis of NGS technology is crucial. This article will explore stability analysis of NGS technology from four perspectives: principle, workflow, analysis cycle, and application scenarios.

Material Number: CBP10402

Material Number: CBP10428

Material Number: CBP10402