Human Whole Exome Sequencing

Whole exome sequencing (WES) is regarded as a cost-effective sequencing strategy in identifying disease-causing mutations. Although exons only takes 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 strategise available to meet various research goals.

Platform:  Illumina NovaSeq 6000

Service Details

Demo Results

Service Advantages

3. Mutation signature NMF clustering

ØTargeted Protein Coding Region: by capturing and sequencing protein coding region, hWES is utilized to reveal variants related to protein structure.
ØHigh Accuracy: with high sequencing depth, hWES facilitates detection of common variants and rare variants with frequencies lower than 1%
ØCost Effective: hWES yields approximately 85% of human disease mutations from 1% of human genome
ØFive strict QC procedures covering the whole process with Q30>85% guaranteed

Service Specifications



Exon Capture Strategy

Illumina NovaSeq 6000


Agilent SureSelect

Twist Bioscience

Sample Requirements

DNA Amount: ≥ 400 ng (gDNA from fresh tissues); ≥ 0.8 μg (gDNA from FFPE)
DNA Concentration: ≥ 20 ng/μL
Purity: D260/280 = 1.8-2.0; no degradation and no contamination (RNA or protein)

Recommended Sample Delivery

For Mendelian disorders/rare diseases: effective sequencing depth above 50×
For tumor samples: effective sequencing depth above 100×

4. Distribution of driver genes Mutation spectrum

Service Work Flow


Experiment design


Sample delivery


RNA extraction


Library construction




Data analysis


After-sale services

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  • 1.Circos on chromosome-level genome assembly of G. rotundifolium by Nanopore sequencing platform

    3. Mutation signature NMF clustering

    Different mutagenesis processes such as DNA replication infidelity, genotoxin exposures, etc. during DNA replication may lead to specific types of mutations, which are known as mutational signatures. According to the bases next to SNV (±1 bp), SNV can be classified into 96 types. NMF (non-negative matrix factorization) clustering analysis is processed based on the frequency of these types and classified SNV into different mutational signatures.

    2.Distribution of driver genes/ Mutation spectrum
    4. Distribution of driver genes Mutation spectrum

    Significantly mutated genes (SMGs) are identified by analyzing gene mutation rate and background mutation rate with MutSigCV software. SMGs are more likely to be driver genes.


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