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.

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• 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

 

Applications:

• 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

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