Exome Sequencing in Today's Lab: Shifting the Paradigm in Translational and Clinical Research

Abstract

Next generation sequencing technologies have enabled a rapid expansion toward the understanding of inherited disorders, cancer biology, drug development, and treatment resistance. Exome sequencing has been increasingly and successfully applied in the clinical research setting for identifying common single nucleotide variants, copy number variations, and small insertions or deletions as well as rare de novo mutations that may explain Mendelian, complex, and rare genetic disorders. Recent advancement in rapid and low-cost exome sequencing make it an attractive alternative to traditional targeted gene panel sequencing for clinical research, while maintaining the possibility of discovering mutations in genes previously not associated with a disorder. Furthermore, the exome encompasses approximately 1% of the genome, yet contains approximately 85% of disease-causing mutations, making exome sequencing easier and cheaper than whole genome sequencing for identifying disease-causing variants in research. Researchers are now applying proband-father-mother (trio) exome sequencing to uncover variants that potentially either cause or modify the condition under study. In this webinar, the audience will learn about the current applications of exome sequencing in clinical research and its impact on the future of health care.