The platform is an end-to-end solution for immuno- and precision oncology biomarker discovery applications, simultaneously enabling the analysis of: tumor escape mechanisms (including HLA typing and somatic
mutation detection), immune repertoire profiles, neoantigen load, tumor mutational burden, microsatellite instability, oncoviruses, and immune checkpoint gene expression.
In this retrospective analysis for quality assessment of clinical
mutation detection in NSCLCs using an NGS assay, we confirmed a low incidence of coexisting PIK3CA mutations within the mTOR pathway with EGFR, KRAS, or BRAF mutations within the EGFR/MAPK pathway.
This latest patent further expands the global intellectual property position for the company's rare
mutation detection technology, which already includes patents in the US, China, Australia, and Europe, said Lyle Arnold, Ph.D., the chief scientific officer.
We describe a novel approach for rapid somatic
mutation detection in a colorectal cancer case using a "molecular touch-prep" specimen at the time of resection.
By adding KEW's somatic
mutation detection capabilities to Invitae's extensive portfolio of diagnostic genetic testing panels for hereditary cancers, Invitae will be able to help clinicians guide their patients from initial cancer diagnosis through treatment and monitoring.
Mutation detection analysis was performed in complete coding region and exon/intron junctions of patients by direct sequencing method.
Transgenomic is a global biotechnology company advancing personalised medicine in oncology and inherited diseases through advanced diagnostic technologies, such as its revolutionary Ice Cold-PCR, which enables use of liquid biopsies for
mutation detection.
Transgenomic's ICE COLD-PCR technology delivers up to a 500-fold increase in
mutation detection compared to most current methods, with levels of detection routinely achievable down to 0.01%.
Out of these, the most important is the sensitivity and specificity of
mutation detection method.
Its products are used in gene expression and copy number variation (CNV) analysis,
mutation detection, SNP genotyping, platform, and laboratory environment.
Based on the above analysis, methods of
Mutation Detection and Slop Calculation are adopted to extract urban and rural areas.