Overview
Whole Exome Sequencing (WES) enables researchers to focus on the genes most likely to affect disorder or phenotype by selectively sequencing the coding regions of a genome. Mice, Mus musculus, are important model organisms for human disease research and drug development. Novogene’s mouse whole exome sequencing (mWES) empowers you to identify causative mutations in mice with phenotypes, which may directly lead to the discovery of human disease genes.
Service SpecificationsApplications
- Drug development
- Model research on human health and disease
Advantages
- State-of-the-art NGS technologies: Novogene is a world leader in sequencing capacity using state-of-the-art technology, including Illumina HiSeq and NovaSeq 6000 Systems.
- Highest data quality: We guarantee a Q30 score ≥ 80%, exceeding Illumina’s official guarantee of ≥ 75%. See our data example.
- Extraordinary informatics expertise: Novogene uses its cutting-edge bioinformatics pipeline and internationally recognized, best-in-class software to provide customers with highly reliable, publication-ready data.
Sample Requirements
| Sample Type | Amount (Qubit®) | Purity |
| Genomic DNA | ≥ 400 ng | OD260/280=1.8-2.0 |
| Genomic DNA from FFPE | ≥ 0.8 μg |
Sequencing Parameters and Analysis Contents
| Platform | Illumina Novaseq 6000 | |||||
| Read length | Paired-end 150 bp | |||||
| Recommended sequencing depth | Effective sequencing depth above 50× (6G) | |||||
| Standard analysis |
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Note: For detailed information, please refer to the Service Specifications and contact us for customized requests.
Project Workflow
Sequencing error rate distribution
Note: The x-axis represents position in reads, and the y-axis represents the average error rate of bases of all reads at a position.
GC content distribution
Note: The x-axis is position in reads, and the y-axis is percentage of each type of bases (A, T, G, C); different bases are distinguishable by different colors.
Sequencing depth & coverage distribution
Note: Average sequencing depth (bar plot) and coverage (dot-line plot) in each chromosome. The x-axis represents chromosome; the left y-axis is the average depth; the right y-axis is the coverage (proportion of covered bases).
SNP detection
| Sample | Sample_1 | Sample_2 | Sample_3 | Sample_4 | Sample_5 |
| CDS | 22849 | 22726 | 22681 | 22679 | 22496 |
| Synonymous SNP | 11491 | 11441 | 11416 | 11,408.00 | 11532 |
| missense SNP | 10697 | 10657 | 10,628.00 | 10639 | 10359 |
| stopgain | 91 | 87 | 87 | 87 | 79 |
| stoploss | 12 | 12 | 12 | 13 | 15 |
| unknown | 564 | 535 | 544 | 536 | 520 |
| intronic | 130230 | 128685 | 129046 | 132820 | 182248 |
| UTR3 | 6431 | 6217 | 6301 | 6413 | 7612 |
| UTR5 | 3177 | 3150 | 3163 | 3234 | 3730 |
| splicing | 81 | 81 | 81 | 81 | 76 |
| ncRNA exonic | 3328 | 3289 | 3312 | 3343 | 4037 |
| ncRNA intronic | 11066 | 10967 | 10946 | 11426 | 17658 |
| ncRNA splicing | 8 | 10 | 13 | 13 | 13 |
| upstream | 4488 | 4204 | 4270 | 4458 | 6344 |
| downstream | 2392 | 2352 | 2436 | 2406 | 3501 |
| intergenic | 66631 | 64399 | 64589 | 68470 | 137307 |
| Total | 250922 | 246335 | 247081 | 255588 | 385335 |
Heatmap of significantly mutated genes
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