Clinical Genomics Division

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.

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.

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

Standard 30x Depth Analysis

₹10,000 - ₹15,000

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

High Depth (90x Tumor / 30x Normal)

₹15,000 - ₹20,000

TAT: 4 - 6 Days

Deliverables: Somatic VCFs, CNV/SV calls, TMB/HRD scoring, tumor purity/ploidy estimates, and Circos plots of chromosomal rearrangements.

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.

Indian female bioinformatics scientist working on clinical genomic data