What is Whole Exome Sequencing (WES) & Targeted Exome Sequencing?

Whole Exome Sequencing (WES) sequences all ~20,000–22,000 protein-coding genes (exons), ideal for discovering novel/rare variants in undiagnosed genetic conditions.

Targeted Exome Sequencing focuses on custom or pre-designed panels (e.g., clinical exome, oncology panels, cardiology, neurology) for higher depth/coverage on specific genes/regions – perfect for cancer somatic variant detection, hereditary disease screening, or pharmacogenomics.

Both use target enrichment (hybrid capture) followed by high-throughput NGS for accurate SNP/InDel calling, CNV detection, and variant annotation.

Our Exome & Targeted Sequencing Platforms

• Illumina NovaSeq / NextSeq – high-throughput, deep coverage (80–150x+ recommended for germline/clinical)
• Additional platforms for flexibility (contact us for MGI or others)
• Custom/targeted panels via leading enrichment kits (Agilent SureSelect, Twist, IDT, Roche, etc.)

End-to-End Exome Sequencing Workflow at Yaazh Xenomics

1. Sample Receipt & QC – gDNA extraction from blood, saliva, tissue, FFPE (optimized kits for low-input/clinical samples)
2. Library Preparation & Target Enrichment – Fragmentation, adapter ligation, hybrid capture of exonic regions
3. High-Throughput Sequencing – Paired-end reads on modern Illumina platforms for excellent on-target rates
4. Advanced Bioinformatics & Analysis (Free / Custom):
   • Alignment (BWA/GATK best practices), variant calling (SNPs/InDels/CNVs)
   • Annotation (ClinVar, gnomAD, OMIM, COSMIC, REVEL, etc.)
   • Germline / somatic pipelines (tumor-normal paired available)
   • Trio analysis support (proband + parents for de novo variants)
   • Prioritization of pathogenic/likely pathogenic variants per ACMG/AMP guidelines
   • Custom reports: VCF, annotated Excel, clinical summary, IGV snapshots
5. Deliverables:
   • Raw FASTQ + BAM files
   • Variant call files (VCF/gVCF)
   • Comprehensive report with prioritized variants & interpretation
   • Optional: Sanger validation of key variants

Why Choose Yaazh Xenomics for WES & Targeted Exome in India?

• Affordable pricing – competitive with top Indian labs, no compromise on depth/quality
• Rapid turnaround – fast project delivery for clinical/research needs
• High on-target coverage & uniformity for reliable variant detection
• Expert support for rare diseases, oncology, inherited disorders
• Coimbatore-based lab with nationwide sample pickup/shipping
• ISO-certified processes + strict QC (negative controls, spike-ins)
• Free basic bioinformatics; advanced/custom analysis available

Applications of Whole Exome & Targeted Exome Sequencing

• Rare & undiagnosed genetic diseases (pediatric, adult-onset)
• Clinical exome for hereditary conditions (trio/family analysis)
• Cancer genomics – tumor profiling, somatic mutations, therapy selection
• Population genetics & carrier screening
• Pharmacogenomics & drug response prediction
• Reproductive genetics & preconception testing

Pros & Cons of Exome Sequencing

Advantages

• Cost-effective vs. whole genome (focus on coding regions with most variants)
• Higher depth/coverage for better sensitivity on clinically relevant genes
• Proven for diagnostic yield in rare diseases (~25–40% in many cohorts)

Limitations

• Misses non-coding/regulatory variants (consider WGS if needed)
• Lower sensitivity for large CNVs/SVs vs. array + WGS combo
• Interpretation complexity – requires expert variant review

For full genome insights, explore our Whole Genome Sequencing services.