Whole Exome Sequencing

Whole Exome Sequencing Assay


The human genome contains nearly 3 billion bases, yet only about 1.7%, around 180,000 coding regions make up the exome. Remarkably, about 85% of disease-causing mutations are found within this small fraction. By focusing on the exome, whole exome sequencing (WES) delivers a powerful, cost-effective approach to uncover clinically relevant variants with far greater efficiency than whole genome sequencing. Whole-exome sequencing (WES) is a powerful next-generation sequencing (NGS) approach that decodes the protein-coding regions of the genome, the area's most responsible for disease, making it a widely adopted tool in clinical and research settings.

Whole-exome sequencing, powered by exome enrichment, is an efficient and powerful tool to uncover genetic variants that shape heritable traits ranging from disease-causing mutations to natural variations making it invaluable for applications in population genetics, cancer research, genetic disease studies, and even crop and livestock improvement. Conventional exome sequencing panels often require a trade-off between comprehensive genomic coverage and assay performance, leading to uneven coverage, higher duplication rates, ultimately impacting the sensitivity and reliability of variant detection.

Key Features & Benefits


Developed with a deep understanding of both clinical and research needs, G2M’s Whole exome sequencing assay is designed with exceptional uniformity and high on-target efficiency with the panel content aligned with the latest curated genomic data for enhanced clinical relevance. The panel encompasses ~21,500 genes catering to various hereditary conditions and germline cancers.

Key Features

  • More than 90% of bases with ≥ Q30 quality score.
  • The mitochondrial genome is included in the panel design.

Validated performance

  • Databases used for Annotation: ClinVar, OMIM, gnomAD 1000Genome, dbSNP.
  • Recommended sequencing depth for Mendelian disorder/rare disease: ≥ 80-100x.

Exome Sequencing Assay

  • Complete Exome Coverage.
  • FASTQ to Clinical Interpretation Capability.
  • Flexible Integration with NGS Sequencers.

Panel Specifications


*Hybridization time may vary based on panel size

No. of Genes:
~21,500
Variant types:
SNVs, Indels, CNVs, Mitochondrial genome
Panel size:
38.2 Mb
Recommended coverage:
150-180X
Data required (per sample):
6 GB
Methodology:
Hybridization capture-based target enrichment
Recommended sequencing mode:
Paired end 150 (PE 150)
Sample types:
Blood, Saliva, Amniotic fluid, Chorionic Villus, Tissue
Starting sample input:
50-500 ng Genomic DNA
Average library insert size:
~300 bp

Panel performance


Features
Performance
Coverage Uniformity (0.2X):
>99%
Reproducibility (%):
97.9
Sensitivity (%):
96.7
On Target Ratio (%):
>80

High Confidence Gene Annotation Across Trusted Databases

Whole Exome Sequencing Gene Mapping Analysis

The chart illustrates the high percentage of genes mapped to major clinical and phenotype databases - OMIM, ClinVar, and HPO ensuring robust integration of genetic information. Nearly 100% coverage in OMIM and HPO, along with over 90% in ClinVar, highlights the robustness of these databases for accurate gene interpretation and evidence based clinical insights.

Optimized Coverage Delivering Accuracy Across Samples

Whole Exome Sequencing (WES) Analysis

On-target ratios across patient samples consistently exceeded over 85%, highlighting the panel’s optimized design, efficient probe capture, and robust sequencing performance for reliable genomic profiling.

Exceptional Coverage Uniformity Validated by Low Fold 80 Metric

Whole Exome Sequencing Data Analysis

Fold 80 base penalty measures coverage uniformity, the lower the value, the less over-sequencing required for reliable results. G2M achieves a penalty of < 1.25, reflecting exceptional capture design and hybridization efficiency compared to competitors, ensuring cost-effective, high-quality sequencing.

Efficient Whole Exome Sequencing with Ultra-Low Depth Coverage

Whole Exome Sequencing Variant Analysis

The bar chart compares target coverage at 1X for sample NA12878 across three panels: G2M, Company A, and Company B. G2M demonstrates near complete coverage (~100%), outperforming competitors and ensuring reliable sequencing with minimal gaps critical for accurate variant detection and high-quality results.

Ordering Information


Commercial Name Cat No. Pack Size Platform
Whole Exome Sequencing NGS Test kit G710008-1 24 T Illumina
G710008-2 96 T Illumina
G710008-3 96 T - EZY Illumina - EZY
Whole Exome Sequencing NGS Test kit G710008-4 24 T MGI
G710008-5 96 T MGI
G710008-6 96 T - EZY MGI - EZY
Whole Exome Sequencing NGS Test kit G710008-7 24 T Aviti
G710008-8 96 T Aviti
G710008-9 96 T - EZY Aviti - EZY
Whole Exome Sequencing NGS Test kit G710008-10 24 T Thermo
G710008-11 96 T Thermo
G710008-12 96 T – EZY Thermo – EZY

Resources


Product documentation, coverage files, and technical benchmarking for the Whole Exome Sequencing panel — download directly or request from our applications team.

Product Sheet

WES Panel — Specifications

Full spec sheet covering target size, chemistry options, and ordering SKUs.

Download PDF
Data Files

Target Region BED Files

Coordinate files for the exome panel and available spike-in content.

Download ZIP
Technical Note

Benchmarking vs. Comparator Panels

Uniformity, on-target rate, and duplicate rate comparison methodology.

Read Note
Application Note

Population-Specific Variant Curation

How the South Asian reference cohort shapes probe design and depth.

Read Note
Case Study

Diagnostic Yield in Referral Cohorts

Results summary from a regional genetics referral centre.

Read Case Study
FAQ

Ordering & Sample Requirements

Minimum input DNA, shipping conditions, and reporting timelines.

View FAQ

Product Enquiry Form


Interested in a system demo or
speaking with someone?

Get a demo of the system that you are interested in or contact a specialist to get your questions answered. Fill out a request form and we will be in touch shortly.

Since its inception in 2016, Genes2me has been constantly striving towards setting a benchmark in the diagnostics space by introducing premium quality (Made in India) diagnostic kits which are CE-IVD, ISO-13485:2016, and ISO 9001:2015 certified, assuring our clients of unparalleled quality and compliance with international standards.


© 2026 Genes2me. All rights reserved.