What types of exome sequencing services does YaazhXenomics offer?

YaazhXenomics specializes in expert Whole Exome Analysis (WES) and Clinical Exome services. These are tailored for comprehensive genetic insights, including applications for rare diseases and oncology.

How does YaazhXenomics ensure accuracy in its Whole Exome Analysis?

We utilize an advanced AI-driven bioinformatics pipeline, integrating tools like DeepVariant for precise variant calling and AlphaMissense for enhanced variant interpretation. This approach ensures highly accurate and reliable results.

What kind of reporting is provided with YaazhXenomics' exome analysis?

Our services include comprehensive ACMG (American College of Medical Genetics and Genomics) reporting. This ensures that identified variants are classified and presented according to established clinical guidelines for clear interpretation.

Can YaazhXenomics' WES analysis detect Copy Number Variations (CNVs)?

Yes, our Whole Exome Analysis pipeline is designed to detect exonic Copy Number Variations (CNVs). This capability provides a more complete understanding of genetic alterations beyond single nucleotide variants.

Genomics Division

AI-Driven Whole Exome Analysis (WES) Services

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

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.

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

Standard Variant Calling & Annotation

₹4,000 - ₹6,000

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

₹5,000 - ₹7,500

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.

Frequently Asked Questions

1 What types of exome sequencing services does YaazhXenomics offer?: YaazhXenomics specializes in expert Whole Exome Analysis (WES) and Clinical Exome services. These are tailored for comprehensive genetic insights, including applications for rare diseases and oncology.
2 How does YaazhXenomics ensure accuracy in its Whole Exome Analysis?: We utilize an advanced AI-driven bioinformatics pipeline, integrating tools like DeepVariant for precise variant calling and AlphaMissense for enhanced variant interpretation. This approach ensures highly accurate and reliable results.
3 What kind of reporting is provided with YaazhXenomics' exome analysis?: Our services include comprehensive ACMG (American College of Medical Genetics and Genomics) reporting. This ensures that identified variants are classified and presented according to established clinical guidelines for clear interpretation.
4 Can YaazhXenomics' WES analysis detect Copy Number Variations (CNVs)?: Yes, our Whole Exome Analysis pipeline is designed to detect exonic Copy Number Variations (CNVs). This capability provides a more complete understanding of genetic alterations beyond single nucleotide variants.