Whole Exome Analysis
Clinical and research exome analysis — GATK best-practice variant calling, annotation and prioritisation with ACMG classification and phenotype-driven filtering.
What we offer
What you receive
Workflow
Sample & QC
Extraction, QC and library prep under documented, standardised protocols.
Sequencing / Processing
Calibrated runs and pipelines on validated platforms.
Bioinformatics
HPC-backed assembly, alignment, variant calling and annotation.
Report & Insight
Publication-ready reports, with a dedicated project manager throughout.
Frequently asked
We accept tissue, whole blood, cell pellets, extracted DNA/RNA and a range of environmental and microbial samples. Our team advises on collection and shipping for each project.
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Tell us your sample type, scope and timelines — we'll respond within one business day.
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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.
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
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Diagnostic Research: Solving diagnostic odysseys for inherited genetic disorders using phenotype-driven gene panels (HPO terms).
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Cancer Genomics: Identifying actionable mutations for precision oncology and targeted therapeutics.
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Population Studies: Discovering novel variants in specific ethnic cohorts and performing genome-wide association studies (GWAS) on exome data.
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.
Service Tiers & Deliverables
Research Exome Analysis
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
Deep Coverage & ACMG Classification
TAT: 4 - 6 Days
Deliverables: Somatic VCFs, CNV calls, Tumor Mutational Burden (TMB) scoring, and phenotype-driven variant prioritization reports.
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.
