Dear Health Consumer,
When you are ready to have a better understanding of your human genome responsible for a majority of known disease-related variants that can help you and your doctor monitor and predict your health and be proactive with disease related challenges in the future to achieve a better health outcome, you may use this letter.
A letter for your doctor to request the WES DNA lab test
Regards,
Connie Dello Buono
Motherhealth
1708 Hallmark Lane San Jose CA 95124
motherhealth@gmail.com
408-854-1883
Disease prediction, senior care and health concierge
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Exome sequencing provides a cost-effective alternative to whole genome sequencing as it targets only the protein coding region of the human genome responsible for a majority of known disease related variants. Whether you are conducting studies in rare Mendelian disorders, complex disease, cancer research, or human population studies, Novogene’s comprehensive human whole exome sequencing service provides a high-quality, affordable and convenient solution.
Novogene’s bioinformatics analysis includes data QC, mapping with reference genome, SNP/InDel, somatic SNP/InDel calling, statistics and annotation. Novogene utilizes internationally recognized software in bioinformatics analysis, e.g. BWA, SAMtools, GATK, etc.
In particular, Novogene bioinformatics pipeline includes annotation with the exome aggregation consortium (ExAC). ExAC dataset spans 60,706 unrelated individuals sequenced as part of various disease-specific and population genetic studies. This population scale database greatly facilitates research of disease pathogenesis.
The Novogene Advantage
- Unsurpassed data quality: We guarantee a Q30 score ≥80%, exceeding Illumina’s official guarantee of ≥75%. See our data example.
- State-of-the-art exome capture: Agilent SureSelect Human All Exome V6 (58 M) is used.
- Accurate variant calling with longer read length up to 150 bp.
- Extraordinary informatics expertise: Novogene uses its cutting-edge bioinformatics pipeline and internationally recognized best-in-class software to provide customers with “publication-ready data”.
Project Workflow
Exome Capture
- Agilent SureSelect Human All Exon V6 Kit
Sequencing Strategy
- 180~280 bp insert DNA library
- HiSeq platform, paired-end 150 bp
Data Quality Guarantee
- We guarantee that ≥ 80% of bases have a sequencing quality score ≥ Q30, which exceeds Illumina’s official guarantee of ≥ 75%.
Sample Requirements
- Input DNA:
- For fresh sample: ≥ 1.0 μg (a minimum of 200 ng can be accepted with risk)
- For FFPE sample: ≥ 1.5 μg
- DNA concentration: ≥ 20 ng/μl
- DNA Volume: ≥ 10 μl
- OD260/280 = 1.8 – 2.0 without degradation or RNA contamination
Turnaround Time
- Within 22 working days after verification of sample quality (without data analysis)
- Additional 5 working days for data analysis
Recommended Sequencing Depth
- For Mendelian disorder/rare disease: effective sequencing depth above 50×
- For tumor sample: effective sequencing depth above 100×
Analysis pipeline
Advanced Analysis
Monogenic disorders
1. Variant filtering
2. Analysis under dominant/recessive model (Pedigree information is needed)
2.1 Analysis under dominant model
2.2 Analysis under recessive model
3. Functional annotation of candidate genes
4. Pathway enrichment analysis of candidate genes
5. Linkage analysis
6. Regions of homozygosity (ROH) analysis
Complex/multifactorial disorders
1. Variant filtering
2. Analysis under dominant/recessive model (Pedigree information is needed)
2.1 Analysis under dominant model
2.2 Analysis under recessive model
3. Functional annotation of candidate genes
4. Pathway enrichment analysis of candidate genes
5. De novo mutation analysis (Trio/Quartet)
5.1 De novo SNP/InDel detection
5.2 Calculation of de novo mutation rates
6. Protein-protein interaction (PPI) analysis
7. Association analysis of candidate genes (at least 20 trios or case/control pairs)
Cancer (for tumor-normal pair samples)
1. Screening for predisposing genes
2. Mutation spectrum & mutation signature analyses
3. Screening for known driver genes
4. Analyses of tumor significantly mutated genes
5. Analysis of copy number variations (CNV)
5.1. Analysis of CNV distribution
5.2.Analysis of CNV recurrence
6. Fusion gene detection (for WGS porject only)
7. Purity & ploidy analyses of tumor samples
8. Tumor heterogeneity analyses
9. Tumor evolution analysis
10. Display of genomic variants with Circos
