Human Whole Exome Sequencing
Service Advantages
● Targeted Protein Coding Region: by capturing and sequencing protein coding region, hWES is utilized to reveal variants related to protein structure;
● High Accuracy: with high sequencing depth, hWES facilitates detection of common variants and rare variants with frequencies lower than 1%;
● Cost Effective: hWES yields approximately 85% of human disease mutations from 1% of human genome;
● Five strict QC procedures covering the whole process with Q30>85% guaranteed.
Sample Specifications
|
Platform
|
Library
|
Exon Capture Strategy
|
Recommend Sequencing Strategy
|
|
Illumina NovaSeq Platform
|
PE150 |
Agilent SureSelect Human All Exon V6 IDT xGen Exome Hyb Panel V2 |
5 Gb 10 Gb |
Sample Requirements
|
Sample Type
|
Amount (Qubit® )
|
Volume
|
Concentration
|
Purity(NanoDrop™ ) |
|
Genomic DNA
|
≥ 300 ng |
≥ 15 μL
|
≥ 20 ng/μL
|
OD260/280=1.8-2.0
no degradation, no contamination
|
Recommended Sequencing Depth
For Mendelian disorders/rare diseases: effective sequencing depth above 50×
For tumor samples: effective sequencing depth above 100×
Bioinformatics
Service Work Flow
Sample delivery
DNA extraction
Library construction
Sequencing
Data analysis
Data delivery
After-sale services
1.Alignment statistics
Table 1 Statistics of map result
Table 2 Statistics of exome capture
2.Variation Detection
Figure 1 Statistics of SNV and InDel
3.Advanced Analysis
Figure 2 Circos plot of Genome-wide harmful SNV and InDel
Table 3 Screening of disease-causing genes
