Human Whole Genome Analysis (hWGS)
Decoding the complete 3.2 billion base pairs. We provide high-precision bioinformatics for clinical diagnostics, uncovering deep intronic variants, complex structural rearrangements, and pharmacogenomic markers.
Data Security & Clinical Reporting
Human genomic data requires the highest level of security. We ensure GDPR and HIPAA-compliant data handling architectures.
For translational research, we provide publication-ready graphics (Circos plots, Manhattan plots) and assist in structuring variant interpretations according to strict ACMG/AMP/CAP guidelines for constitutional and somatic variants.
Instrument & AI Pipeline
Sequencing Platforms
Short-Read (High-Throughput): Illumina NovaSeq X Plus, MGI DNBSEQ-T7. The industry standard for high-accuracy SNV and Indel calling across large cohorts. Long-Read (Phasing & SVs): PacBio Revio (HiFi Reads) and Oxford Nanopore (PromethION). Essential for haplotype phasing, resolving tandem repeats, and capturing complex structural variation.
AI-Driven Bioinformatics
• Data Requirements: >30x (Germline/Rare Disease), >90x (Tumor) with corresponding >30x Normal, Q30 > 85%. • DeepSomatic & DeepVariant: Google's CNN-based models radically reduce false positives in both germline and difficult tumor somatic contexts. • SpliceAI: Deep learning model predicting how non-coding variants affect mRNA splicing, critical for rare disease diagnosis. Pipeline: DRAGEN-compatible BWA-MEM2, DeepVariant, Manta/Smoove (SVs), SpliceAI, AlphaMissense, SnpEff, PharmCAT (PGx).
Service Tiers & Deliverables
Research Germline WGS
₹10,000 - ₹15,000 Standard 30x Depth Analysis TAT: 4 - 6 Days Deliverables: Compressed CRAM/BAM, germline gVCF/VCF, comprehensive annotation (gnomAD, ClinVar, SpliceAI scores), and structural variant profiles.
Somatic Tumor-Normal WGS
₹15,000 - ₹20,000 High Depth (90x Tumor / 30x Normal) TAT: 4 - 6 Days Deliverables: Somatic VCFs, CNV/SV calls, TMB/HRD scoring, tumor purity/ploidy estimates, and Circos plots of chromosomal rearrangements.
Analytical Scope
- 1. Clinical WGS & Rare Disease Going beyond the exome to resolve diagnostic odysseys in probands and family trios. • Detection of deep intronic and regulatory (promoter/enhancer) mutations. • High-resolution mapping of large Structural Variants (SVs) and Mobile Element Insertions (MEIs). • ACMG-compliant pathogenicity reporting.
- 2. Oncology: Comprehensive Tumor Profiling Tumor-Normal paired WGS to uncover the complete mutational landscape of cancer. • Non-coding driver mutations and complex chromosomal rearrangements (Chromothripsis). • Precise Tumor Mutational Burden (TMB) and Homologous Recombination Deficiency (HRD) scoring.
- 3. Pharmacogenomics (PGx) & HLA Typing Extracting high-resolution HLA alleles and CY450 gene variants to predict personalized drug responses and adverse reactions.
The WGS Advantage Over WES
Uniform Coverage: WGS eliminates the capture biases of WES, providing highly uniform coverage across GC-rich regions and exons.
Structural Variation: WES struggles with CNVs and SVs. WGS provides unparalleled accuracy in detecting large deletions, duplications, inversions, and translocations.
Telomere-to-Telomere (T2T): Integrating long-read data allows us to resolve previously "dark" regions of the human genome, including centromeres and highly repetitive genes.