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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





Exon Capture Strategy


 Recommend Sequencing Strategy




Illumina NovaSeq Platform



Agilent SureSelect Human All Exon V6

IDT xGen Exome Hyb Panel V2

5 Gb

10 Gb

Sample Requirements

Sample Type


 Amount (Qubit® )







 Purity(NanoDrop™ )


Genomic DNA


     ≥ 300 ng
        ≥ 15 μL
           ≥ 20 ng/μL
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×


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



Data analysis

Data analysis


Data delivery

After sale Services

After-sale services

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  • 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

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    Table 3 Screening of disease-causing genes

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