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
|
Sample Requirments
|
|
1 Illumina NovaSeq 6000
|
PE150 |
Agilent SureSelect Human All Exon V6 IDT xGen Exome Hyb Panel V2 |
Concentration ≥ 20ng/μl, Amount DNA ≥ 1μg (Standard), Purity: D260/280 = 1.7-2.2, OD260/230 ≥0.5; no degradation and no contamination (RNA or protein) |
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
Experiment design
Sample delivery
DNA extraction
Library construction
Sequencing
Data analysis
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
