Whole Exome Analysis (WES)
Focusing on the 1-2% of the genome that codes for proteins. We provide high-depth, high-precision analysis for clinical diagnostics, rare Mendelian diseases, and complex oncology research.
Publication & Reporting Support
We do not just hand over raw VCFs. We provide publication-ready graphics (Lollipop plots for mutations, Waterfall plots for cancer cohorts) and comprehensive methodology write-ups suitable for medical journals.
For clinical researchers, we assist in formatting variant findings according to strict ACMG/AMP guidelines.
Instrument & AI Pipeline
Instrument Compatibility
Standard Short-Read WES: Illumina (NovaSeq, NextSeq), MGI (DNBSEQ-G400, T7), AVITI (Element Biosciences), Thermo Fisher (Ion Proton/S5). Compatible with Agilent SureSelect, Twist Bioscience, and Illumina Nextera capture kits. Targeted Long-Read Panels: PacBio (Revio) and Oxford Nanopore for phasing clinically relevant exonic regions and resolving pseudogenes.
AI Pipeline & Data Quality
• Data Quality: Q30 > 80%, On-Target Rate > 70%. • Required Depth: >50x (Research), >100x (Clinical Mendelian), >200x to 500x (Somatic/Tumor). • AI Utilization: We integrate Google DeepVariant for highly accurate variant calling and Google AlphaMissense / PrimateAI-3D for state-of-the-art pathogenicity prediction of unknown missense variants. Tools: BWA-MEM, GATK4 (Mutect2 for somatic), DeepVariant, SnpEff, VEP, ExomeDepth, InterVar (ACMG).
Service Tiers & Deliverables
Research Exome Analysis
₹4,000 - ₹6,000 Standard Variant Calling & Annotation TAT: 2 - 4 Days Deliverables: BAM/BAI files, VCF, Annotated VCF (SnpEff/VEP), Target coverage metrics, and primary variant excel sheets.
Clinical / Tumor-Normal WES
₹5,000 - ₹7,500 Deep Coverage & ACMG Classification TAT: 4 - 6 Days Deliverables: Somatic VCFs, CNV calls, Tumor Mutational Burden (TMB) scoring, and phenotype-driven variant prioritization reports.
Analysis Capabilities
- 1. Clinical Exome & Rare Diseases Identification of causative mutations in probands or family trios (Trio-WES). • Variant filtering based on population frequency (gnomAD, 1000G). • Pathogenicity classification following strict ACMG/AMP guidelines.
- 2. Oncology & Somatic Calling Tumor-Normal paired analysis to identify driver mutations, tumor mutational burden (TMB), and microsatellite instability (MSI).
- 3. Exonic CNV Detection Beyond SNPs and Indels, we utilize read-depth algorithms to detect Copy Number Variations (deletions/duplications) spanning individual or multiple exons.
Application Focus
Diagnostic Research: Solving diagnostic odysseys for inherited genetic disorders using phenotype-driven gene panels (HPO terms).
Cancer Genomics: Identifying actionable mutations for precision oncology and targeted therapeutics.
Population Studies: Discovering novel variants in specific ethnic cohorts and performing genome-wide association studies (GWAS) on exome data.