The whole genome sequencing is a comprehensive method to analyze the entire genome of an individual. It is proven to be essential and invaluable for the identification of gene functions and their involvement in disease.

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Applications:

• WGS can survey exonic regions that are poorly captured, and be used to detect structural variants especially in the case of newborn and pediatric diseases.

• It also helps pharmacologist to tailor disease treatments to an individual’s genetic makeup.

• It has major applications in Mendelian diseases, complex diseases, and cancers in medical genetics.

• It also enables identification of additional classes of mutations like large structural rearrangements, balanced translocations, uniparental isodisomy, and mosaicism.

• It also helps in providing information concerning the genetic basis of phenotypic characteristics, including antibiotic susceptibility and virulence.