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.
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
| Features | Illumina | MGI | Element (AVITI) |
|---|---|---|---|
| Coverage Uniformity (0.2X) | >99% | >99% | >99% |
| Reproducibility (%) | 97.9 | 97.7 | 97 |
| Sensitivity (%) | 96.7 | 97.6 | 96 |
| On Target Ratio (%) | >80 | >80 | >80 |
| Disease Class | List Of Diseases |
|---|---|
| Cardiac disorders | Dyslipidemia, Aortopathy, Congenital heart defect, cardiovascular diseases |
| Dermatological disorders | Ectodermal dysplasia, Albinism, Xeroderma pigmentosum, Ichthyosis |
| Endocrinological disorders | Pancreatitis, Premature ovarian failure, Adrenal hyperplasia, Hyperparathyroidism |
| Bone disorders | Arthrogryposis, Osteopetrosis, Cleft lip palate, Amelogenesis imperfecta |
| Immunological disorders | Immune dysregulation, Defects in intrinsic and innate immunity |
| Hepatological disorders | Polycystic liver disease, Cholestasis, Congenital hepatic fibrosis |
| Hematological disorders | Bleeding & Thrombotic disorder, Bone marrow failure, Anemia |
| Metabolic disorders | Aminoacidopathies, Purine/Pyrimidine disorders, Creatine biosynthesis disorders |
| Eye disorders | Ectopia lentis, Retinoblastoma, Corneal dystrophy, Optic atrophy |
| Pulmonological disorders | Bronchiectasis, Cystic fibrosis, Primary ciliary dyskinesia |
| Neurological disorders | Neuromuscular disorders, Autism, Seizures & Brain abnormalities, Neurodegenerative disorders |
| Oncological disorders | Hematological malignancy, Brain cancer, Colorectal cancer, Breast cancer, Ovarian cancer |
| No. of Genes: | ~21,500 |
| Inclusions: | SNVs, Indels, CNVs, Mitochondrial genome |
| Panel size: | 38.2 Mb |
| Recommended coverage: | 150-180X |
| Data required (per sample): | 6 GB |
| Pre-capture pooling: | 8 |
| 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 |
Comprehensive Gene Coverage Across Key Databases:
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.
High On-Target Alignment Across Different Cancer Patient Samples:
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 Uniformity for Reliable Sequencing Results:
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.
Target Coverage at 1X Across Panels:
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.
| Commercial Name | Cat No. | Pack Size | Platform |
|---|---|---|---|
| Clinical Exome Sequencing Expanded (WES) NGS Test kit | G710008-1 | 24 T | Illumina |
| G710008-2 | 96 T | Illumina | |
| G710008-3 | 96 T - EZY | Illumina - EZY | |
| Clinical Exome Sequencing Expanded (WES) NGS Test kit | G710008-4 | 24 T | MGI |
| G710008-5 | 96 T | MGI | |
| G710008-6 | 96 T - EZY | MGI - EZY | |
| Clinical Exome Sequencing Expanded (WES) NGS Test kit | G710008-7 | 24 T | Aviti |
| G710008-8 | 96 T | Aviti | |
| G710008-9 | 96 T - EZY | Aviti - EZY | |
| Clinical Exome Sequencing Expanded (WES) NGS Test kit | G710008-10 | 24 T | Thermo |
| G710008-11 | 96 T | Thermo | |
| G710008-12 | 96 T – EZY | Thermo – EZY |
Download useful documents and technical information for the Exome Sequencing.
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