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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 6000


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

 

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

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WES_BI work flow_Tumor-01

Service Work Flow

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Experiment design

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Sample delivery

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DNA extraction

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Library construction

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Sequencing

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Data analysis

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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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