Applications

Potential applications for Complete Genomics' whole human genome sequencing service include:

Cancer Research

The Complete Genomics Cancer Sequencing Service is specifically optimized for cancer studies, geared towards comparison of tumor-normal samples. Our Analysis Pipeline contains variation detection algorithms enhanced to account for the unique properties of a cancer genome, while maintaining superior performance across all sample types. Understanding somatic mutations can help guide a better understanding of cancer, and may lead to the development of new cancer therapeutics and diagnostics and may enable physicians to select the best course of therapy based on specific mutations found in a tumor.

Mendelian Disease Research

There are thousands of Mendelian diseases, diseases that have been found to be prevalent in families and are likely to have a significant genetic component. However, the genetic cause of most of these diseases is currently unknown. By sequencing the whole genomes of the affected families, the genetic causes of these Mendelian diseases can be understood, which could lead to the development of novel diagnostics and therapeutics.

Rare Variant Disease Research

Diseases such as central nervous system disorders, cardiac disease and certain metabolic disorders that appear broadly in the population are thought to be caused by rare variants. Large-scale studies of affected individuals may help to identify the disrupted pathways and lead to the development of novel diagnostics and therapeutics.