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Human Whole Exome Sequencing

Human Whole exome sequencing (hWES) is widely acknowledged as a cost-effective and powerful sequencing approach for pinpointing disease-causing mutations. Despite constituting only about 1.7% of the entire genome, exons play a crucial role by directly reflecting the profile of total protein functions. Notably, in the human genome, over 85% of mutations related to diseases manifest within the protein coding regions. BMKGENE offers a comprehensive and flexible human whole exome sequencing service with two different exon capturing strategies available to meet various research goals.

Service Details

Demo Results

Service Features

● Two exome panels available based on target enrichment with probes: Sure Select Human All Exon v6 (Agilent) and xGen Exome Hybridization Panel v2 (IDT).

● Sequencing on Illumina NovaSeq.

● Bioinformatic pipeline directed towards disease analysis or tumour analysis.

Service Advantages

● Targets Protein Coding Region: by capturing and sequencing protein coding regions, hWES is utilized to reveal variants related to protein structure.

● Cost Effective: hWES yields approximately 85% of human disease-associated mutations from 1% of human genome.

● High Accuracy: with high sequencing depth, hWES facilitates detection of both common variants and rare variants with frequencies lower than 1%.

● Rigorous Quality Control: we implement 5 core control points across all stages, from sample and library preparation to sequencing and bioinformatics. This meticulous monitoring ensures the delivery of consistently high-quality results.

● Comprehensive bioinformatics analysis: our pipeline goes beyond identifying variations to the reference genome, as it incorporates advanced methods designed to specifically address research questions related to genetic aspects of diseases or tumour analysis.

● Post-Sales Support: Our commitment extends beyond project completion with a 3-month after-sale service period. During this time, we offer project follow-up, troubleshooting assistance, and Q&A sessions to address any queries related to the results.

Sample Specifications

Exon capture Strategy

Sequencing Strategy

Recommended data output

Quality control

Sure Select Human All Exon v6 (Agilent)

or xGen Exome Hybridization Panel v2 (IDT)


Illumina NovaSeq PE150

5 -10 Gb

For mendelian disorders/rare diseases: > 50x

For tumor samples: < 100x


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

Bioinformatic analysis of hWEs-disease  includes:

● Sequencing data QC

● Reference Genome Alignment

● Identification of SNPs and InDels

● Functional Annotation of SNPs and InDels

WES_BI work flow_Tumor-01

Bioinformatic analysis of tumor samples includes:

● Sequencing data QC

● Reference Genome Alignment

● Identification of SNPs, InDels and somatic variations

● Identification of germline variants

● Mutation signatures analysis

● Identification of drive genes based on gain-of-function mutations

● Mutation annotation at the level of drug susceptibility

● Heterogeneity analysis – calculation of purity and ploidy

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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    Data QC – Statistics of Exome capture



    Variant identification – InDels


    Advanced analysis: identification and distribution of deleterious SNPs/InDels – Circos plot


    Tumor analysis: identification and distribution of somatic mutations – Circos plot



    Tumour analysis: clonal lineages



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