Targeted Sequencing

Identifying and targeting specific genomic regions of interest advances our understanding of diseases and their underlying mutations.  Targeted sequencing enables scientists to study regions of interest or regions associated with disease with greater precision and efficiency.  Researchers use targeted sequencing to investigate a variety of disease areas including oncology, inherited disease, immunology, infectious diseases, and more.


  • Focus sequencing and analysis resources on regions of interest
  • Detect and quantify low-frequency variants
  • Validate germline or somatic mutations discovered during whole genome or other survey approaches

Learn More

Please visit the pages below for more information about how targeted 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 targeted sequencing and other approaches from Roche Sequencing


Advancement in laboratory protocols to automate and streamline targeted sequencing.