Whole Exome Sequencing Analysis

Whole exome sequencing (WES) is used extensively to selectively capture and sequence protein coding regions of the genome. The protein coding regions accounts for only 2% of whole genome. WES covers more than 85% of this region encompassing disease causing and genetically influencing variants. The mutations detected using WES have applications in population genetics, cancer studies and secondary or incidental findings.

  • WES is workable, cost effective and time efficient in comparison to original/ primitive method of Sanger sequencing.

  • WES gives an added advantage over whole genome sequencing, as it focuses on genes that are more likely to affect the phenotype.

  • WES helps in elucidating genetic variants underlying human diseases



  • WES has applications ranging from healthcare to genomics-based research.

  • WES is a novel approach to personalized medicine.

  • With WES genetic basis of multifactorial diseases can be determined, uncovering the polygenic phenotype associations.

  • WES has paved way for predictive and prognostic testing, prenatal genetics, studies on multifactorial diseases, association of genome with drug metabolism and response (pharmacogenetics) and targeted treatments for cancer.

  • WES is widely used for studying natural evolution in plants, host-pathogen interactions and exonic aid in improvement of crops