Exome Sequencing

Current knowledge of the genome reveals a majority of DNA changes causing human genetic diseases reside within the exome, which is why it is often referred to as the most relevant portion of the genome. Exome sequencing has quickly become the method of choice for identifying causative mutations for genetic disorders, or to discover functional variations for traits and drug responses.

Sequencing the exome in place of the entire genome enables a more efficient use of sequencing and analysis resources. 


  • Discover variants with greater sensitivity and specificity while minimizing sequencing costs from our efficient capture designs
  • Optimize throughput and sequencing coverage through sample multiplexing
  • Simplify bioinformatics analysis

Learn More

Please visit the pages below for more information about how exome sequencing has been used leading to advances in genetics and disease research:


A collection of recent publications featuring Roche Sequencing products


Leading researchers present advances and discoveries made possible using exome sequencing and other approaches from Roche Sequencing


Advancement in laboratory protocols to automate and streamline exome sequencing.