Whole Exome Sequencing (WES)
Harnessing the Power of Whole Exome Sequencing for Clinical Diagnostics
Whole-exome sequencing involves sequencing the protein-coding regions of more than 20000 genes. The human exome represents less than 2% of the genome, but contains ~85% of known disease-related variants, making this method a cost-effective alternative to whole-genome sequencing. Produces a smaller, more manageable data set for faster, easier data analysis compared to whole-genome approaches
Exome sequencing can efficiently identify coding variants across a broad range of applications, including population genetics, genetic disease, and cancer studies.
Unleashing the Potential of WES in Clinical Diagnostics:
- Unravelling Complex Disorders: WES identifies disease-causing genetic variants, to provide answers to complex and undiagnosed disorders.
- Comprehensive Genetic Analysis: WES examines SNVs, CNVs, indels, and rare de novo mutations, to enable accurate detection and interpretation of genetic changes.
- Timely Care: Rapid WES delivers prompt results, facilitating swift clinical decision-making.(REMOVE FULL STOP AND CONTINUE THE SENTENCE) by targeting disease- elevant exome regions, WES offers cost-effective diagnostics without compromising accuracy.
- WES offers cost-effective diagnostics without compromising accuracy.
Sample Requirements
- Blood (3-5 ml)
- DNA (1-5 ug, 260/280 ratio=1.8-2.0)
The General Workflow For Whole Exome Sequencing (WES) include;
- DNA isolation and Quality Check
- Library Preparation
- Sequencing
- Bioinformatics analysis
- Reporting
Methodology
- NGS
TAT
- 4 Weeks
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