Novogene’s hWES service offers a convenient solution with plenty of profits, such as various panels to choose from, high-quality data, and publication-ready results that can help you achieve your research goals. Novogene also offers clinical-grade whole exome sequencing in clinical-grade sequencing laboratories validated and in compliance with CAP standards.
Applications
- Human whole exome sequencing has been successfully helping researchers to obtain answers to many different and cutting-edge research and clinical questions:
- Genome variant studies through exon detection
- Pathogenic mechanism and molecular characterization of samples in research and clinical contexts
- Cancer biopsy as a tool
Benefits
- hWES focuses on the exome regions which can help achieve higher sequencing depth with significantly fewer data of good quality, compared with WGS.
- hWES increases the sensitivity of the analysis which makes the detection of rare mutations easy.
- Novogene’s extraordinary professional bioinformatics pipeline and internationally recognized software ensures that our customers always receive reliable and publication-ready data.
Specifications: DNA Sample Requirements
| Platform Type | Sample Type | Amount (Qubit®) | Purity |
| Illumina NovaSeq 6000 | Genomic DNA | ≥ 300 ng | A260/280 = 1.8-2.0; no degradation,no contamination |
| cfDNA/ctDNA | ≥ 30 ng | Fragments should be in multiples of 170 bp, with no genomic contamination |
|
| Genomic DNA from FFPE tissue | ≥ 500 ng | Fragments should be ≥ 1000 bp |
Specifications: Sequencing and Analysis
| Sequencing Platform | Illumina NovaSeq 6000 |
| Read Length | Paired-end 150 bp |
| Sequencing Depth | For Mendelian disorder/rare disease: effective sequencing depth above 50× (6G) |
| For tumor sample: effective sequencing depth above 100× (12G) | |
| Data Analysis | Data quality control
Alignment to a reference genome SNP and InDel calling Somatic SNP/InDel/CNV mutation detection (tumor-normal paired samples) |
Project Workflow
From sample preparation, library preparation, DNA sequencing and data quality control, to bioinformatics analysis, Novogene provides high-quality products and professional services. Each step is performed in agreement with a high scientific standard and meticulous design to ensure high-quality research results.
