Harnessing the Power of Next Generation Sequencing for Clinical Diagnostics
Clinical Exome Sequencing
Clinical exome sequencing (CES) is a DNA test that targets the protein-coding regions of genes known to cause diseases, covering 1-2% of the genome. It successfully searches all the genes reported in the medical literature and mutation databases known to cause any of the traits listed by the physicians. This focused approach is cost-effective, generates smaller data sets for quicker analysis, and provides faster interpretation of the results compared to whole-genome and whole-exome sequencing
CES offers high diagnostic yield, particularly for rare genetic disorders, and supports applications in cancer genomics and prenatal diagnosis. By identifying pathogenic variants, CES enables personalized clinical management plans, improving patient outcomes and facilitating timely clinical decision-making.
Whole Exome Sequencing
Whole-exome sequencing is sequencing of all the coding regions and also the splice junctions of any genes present in the genome. The “exome” represents all the transcribed portions of the human genome that are translated into proteins. It sequences all the ∼180,000 annotated exons of the ∼20,000 genes of the human genome giving it a unique value in the diagnosis of monogenic disorders.
Exome sequencing can efficiently identify coding variants across a broad range of applications, including heritable diseases, and cancer studies.
Whole Genome Sequencing
Whole genome sequencing (WGS) is a DNA test designed to determine the order of every single nucleotide in an individual’s genome. This comprehensive approach sequences both the protein coding and non-coding regions of the genome. It although is more data-intensive and costly approach, provides detailed insights into the genetic basis of diseases and traits.
WGS supports research by comprehensively covering all the single-nucleotide variants and insertions and deletions(indels) of complex diseases, cancer genomics, and population genetics, facilitating the discovery of novel variants contributing to the pathology. By providing a complete genetic profile, WGS enables personalized treatment plans and advances our understanding of genetic contributions to health and disease.