Whole Exome Sequencing

Introduction and Workflow

Whole Exome Sequencing (WES) is sequencing of only protein-coding regions (<2% of the genome, also known as exome), which accounts for 80-85% of disease-related variants.
The workflow involves DNA isolation, fragmentation, capturing exonic regions, and sequencing to generate millions of short reads. In the bioinformatics analysis, these reads undergo alignment to a reference genome, followed by the variant calling (SNVs, Indels) and data analysis.
Pinpoints potential disease-causing mutations, providing valuable insights for population genetics, genetic disease research, and cancer studies.
Extensively utilized in diagnostic setting to detect clinically relevant genomic alterations associated with phenotype of the patient.

Cost-effective as compared to Whole Genome Sequencing (WGS), making it accessible to a broader range of researchers and clinicians.
WES offers extensive sequencing of exonic regions, improving the detection of single-nucleotide variants (SNVs), copy number variants (CNVs), and insertions/deletions (InDels) with a sensitivity comparable to WGS, ensuring high accuracy in identifying genetic variants.
WES generates a smaller data set compared to WGS, facilitating faster and easier data analysis, which can expedite research and diagnostic processes.
WES is widely used in both medical and agricultural fields, supporting advancements in disease diagnosis, personalized medicine, and crop improvement. Provides a comprehensive, high-resolution view of the genome, surpassing the coverage offered by targeted sequencing.

Genetic Disorder Diagnosis- Identifies genetic mutations associated with rare and inherited disorders by focusing on the exonic regions where most disease-related variants occur. This enables accurate diagnosis and personalized treatment plans.
Cancer Research- Detects somatic mutations in cancer genomes, providing insights into tumor biology, identifying potential biomarkers for early detection, and guiding targeted therapies for more effective treatment.
Drug Development- Assists in the discovery of new drug targets and the development of precision medicine by revealing the genetic underpinnings of diseases and how genetic variations affect drug responses.
Population Genetics- Explores genetic variations in diverse populations to understand genetic diversity, evolutionary processes, and the genetic basis of complex traits and diseases, aiding in public health and epidemiological studies.
Functional Genomics- Provides insights into gene function and regulation by identifying coding mutations that impact protein function, contributing to our understanding of gene-disease relationships and mechanisms of gene action.
Plant Genomics- Supports crop improvement and plant breeding programs by revealing the genetic basis of desirable traits and enhancing the understanding of plant genomes.

• Genomic DNA

• Cultivated cells, Blood, tissues, Fresh Frozen, FFPE(formalin-fixed paraffin-embedded)

Please refer to sample submission guidelines or Contact Us!

Illumina NovaSeq 6000/ NovaSeq X