High throughput sequencing and assessing disease risk

Abstract

High-throughput sequencing has dramatically improved our ability to determine and diagnose the underlying causes of human disease. The use of whole-genome and whole-exome sequencing has facilitated faster and more cost-effective identification of new genes implicated in Mendelian disease. It has also improved our ability to identify disease-causing mutations for Mendelian diseases whose associated genes are already known. These benefits apply not only in cases in which the objective is to assess genetic disease risk in adults and children, but also for prenatal genetic testing and embryonic testing. High-throughput sequencing has also impacted our ability to assess risk for complex diseases and will likely continue to influence this area of disease research as more and more individuals undergo sequencing and we better understand the significance of variation, both rare and common, across the genome. Through these activities, high-throughput sequencing has the potential to revolutionize medicine.