Whole Genome Sequencing Analysis

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.


  • 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.