Edited by: Dr. Chee Seng Ku, Prof George Patrinos
The advent of NGS technologies and sequence enrichment methods to capture all the protein-coding regions have made exome-sequencing approach technically feasible and cost effective. This was demonstrated in the first publication in 2009 utilising the approach to identify causative variants for Freeman-Sheldon syndrome. This was then followed by an exponential rate of publications employing exome-sequencing to decipher the genetic basis of Mendelian disorders with unknown genetic etiologies.
With this new thematic series in Human Genomics, we recognize the importance of this rapidly emerging field of applying exome-sequencing to study the genetic basis of human diseases and its discoveries.
Collection published: 1 January 2015
Last updated: 19 July 2015