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Exome Sequencing In Oncology

Overview – What is exome sequencing in oncology

Every tumour contains a mixture of inherited mutations, also called germline mutations, and somatic alterations. Somatic alterations are tumour-specific genomic aberrations. Some germline mutations can be used to evaluate the risk for cancer development in predisposed individuals. However, the somatic variants are typically considered potential therapeutic targets.


Applications – What are the advantages of exome sequencing in oncology

Whole exome sequencing of DNA from tumour-only samples typically identifies both somatic and germline mutations. Germline mutations are clinically irrelevant due to their presence in both normal and cancer tissue. Importantly, germline mutations that are misidentified as somatic mutations could lead healthcare providers to select inappropriate treatment strategies that bring no health benefit to the patient and that uselessly increase healthcare costs. Alternatively, false characterisation of somatic mutations as germline mutations could lead physicians to disregard viable treatment options.


Products related to exome sequencing in oncology

Eurofins Genomics attempts to avoid the consequences of misinterpreted genetic information by offering sequencing of DNA isolated from both tumour and normal tissue. Matched tumour-normal sequencing analysis enables accurate identification and subtraction of germline mutations from somatic aberrations. The INVIEW Whole Exome (60 Mb) is a comprehensive service with library preparation, next-generation sequencing and quality control that provides robust stability and enhanced efficiency.

Eurofins Genomics also provides the fastest Sanger Sequencing Services and  optimised DNA and RNA oligonucleotides, such as (q)PCR Primer NightXpress, SeqPrimer NightXpress, and SaltFree Oligo NightXpress.


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