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Human Whole Exome Sequencing

Whole exome sequencing (WES) is regarded as a cost-effective sequencing strategy for identifying disease-causing mutations. Although exons only take up approximately 1.7% of entire genome, it represents the profile of total protein functions directly. In human genome, it has been reported that more than 85% of disease related mutations occur in protein coding region.

BMKGENE offers comprehensive and flexible human whole exome sequencing services with different exon capturing strategies available to meet various research goals.

Platform:  Illumina NovaSeq Platform


Service Details

Demo Results

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

WES_BI work flow_Disease-01
WES_BI work flow_Tumor-01

Service Work Flow

sample delivery

Sample delivery

Pilot experiment

DNA extraction

Library Preparation

Library construction

Sequencing

Sequencing

Data analysis

Data analysis

数据上传-01

Data delivery

After sale Services

After-sale services


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  • 1.Alignment statistics

    Table 1 Statistics of map result

     

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    Table 2 Statistics of exome capture

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    2.Variation Detection

    Figure 1 Statistics of SNV and InDel

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    3.Advanced Analysis

    Figure 2 Circos plot of Genome-wide harmful SNV and InDel

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    Table 3 Screening of disease-causing genes

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