Exome Sequencing

Kashi Clinical Laboratories is a Life Technologies certified service provider for Ion Ampliseq Exome Sequencing. This certification indicates that the sequencing data generated by our laboratory meets a high quality standard. Using the Ion Proton platform and its straightforward technical approach also allows for a rapid turnaround time.

Recent advances in next generation sequencing have opened the door for unprecedented genomic exploration. However, sequencing the whole human genome continues to be costly, requires complex data analysis and is considerably time consuming. The human exome, representing only one percent of total genetic material, is the portion of the genome that codes for proteins. Most importantly, the majority of disease-causing mutations are found within this region.

Exome sequencing is a straightforward and efficient technique that targets the portion of the genome that is most likely to contain genetic variants of medical importance. Compared with whole genome sequencing it requires only one-tenth of the sequence depth and bypasses analytical difficulties associated with intronic regions that are filled with repeats and are computationally difficult to align.

Ion Ampliseq Exome services provided by Kashi include:

  • Coverage of 58Mb including 33Mb of exonic DNA representing >97% of known coding regions
  • Suitable for samples with low DNA concentrations, requiring only 50ng input DNA
  • Basic data analysis includes production of aligned reads and a list of annotated variants

Potential applications for exome sequencing:

Exome sequencing is facilitating ground breaking discoveries about the genetics of disease. Gaining a deeper understanding of the importance of each patient’s genetic background is leading to a personalized approach to medicine. A few of the promising areas where exome sequencing is transforming clinical research include:

  • Enhancing knowledge of the genomic mutations involved in the progression of various types of cancers
  • Understanding why individuals have different responses to pharmaceuticals and predicting personalized treatment regimens that will most effectively meet the needs of patients
  • Investigating the genetic basis of complex diseases including Alzheimer’s, autism, multiple sclerosis, diabetes, and other polygenic disorders
  • Diagnosis of rare genetic disorders