Whole Exome Sequencing WES CapitalBio

The human genome contains approximately 180,000 coding regions (exome), constituting about 1.7% of a human genome. It is estimated that 85% of the disease-causing mutations occur in the exome. For this reason, sequencing of the whole exome has the potential to uncover a higher yield of relevant variants at a far lower cost than whole genome sequencing. Whole exome sequencing analysis, also known as WES testing, supports a broad range of studies for researchers, including genetic disease-related variants, complex diseases, cancer research, or human population genetics. Whole exome sequencing test, exome sequencing test, and whole exome sequencing service are essential tools in these studies. Exome genetic testing and full exome sequencing provide detailed insights into genetic mutations. The whole exome sequencing test price is often more affordable compared to whole genome sequencing. WES sequencing and whole exome sequencing workflow are critical components of the process. Various whole exome sequencing companies offer these services, detailing the whole exome sequencing steps involved. Whole exome genetic testing and exome sequencing analysis are pivotal in advancing our understanding of genetic disorders.

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Research on cancer genome

Tumor susceptibility gene, the pathogenesis of tumors, tumor metastasis/relapse/ heterogeneity

Research on genetic disease genome

Monogenic disease, rare disease, complex disease, de novo mutation.

Research on pharmacogenomics

Drug-resistance mechanism, targeted drug therapy

Research on population queue and evolution

Normal population queue, disease population queue, cumulative mutation of environmental factors

WORKFLOW SPECIFICATIONS Application Cases 1 Application Cases 2

Whole Exome Sequencing Workflow

Sample Preparation- DNA QC - Library Preparation - Library QC - WES Sequencing - WES DATA Analysis QC - Bioinformatics Analysis

Human Whole Exome Sequencing Workflow

Platform	NovaSeq 6000
Read length	Paired-end 150bp
Sequencing Depth	We suggest: For Mendelian disorder/rare disease: effective sequencing depth above 100× (10G) For tumor sample: effective sequencing depth above 200× (20G)


Data Analysis	★Quality Control ★Reads Mapping to Reference Sequence ★Variant Calling ★Functional Annotation ★More data mining upon your request

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Research on genome characteristics ofadvanced MBC (metastatic breast cancer)

Genomic characterization of metastatic breast cancers

Nature, 2019, 569:560-564.IF:43.07

Sample type: Sample of cancer tissue and whole blood matching

Sample quantity: 629

Keyword: WES, tumor characteristics and breast cancer

In May 2019, Nature published the paper related to WES of 629 samples of patients with metastatic breast cancer. This research indicates the gene mutation characteristics of advanced MBCand provides the clues for the therapeutic drug reaction, prognosis and tumor progression. According to this research, the mean sequencing depth of exome is 100~120x. Analysis and identification are performed to the somatic cell mononucleotide mutation, small fragment insertion and missing and copy number variation of samples of patients with MBC. The new characteristics of metastatic tumors are found in this research, which is helpful to the research, patient prognosis or special treatment to the genic changes related to reaction.

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Identification and research of association loci to Type II diabetes

Whole Exome sequencing WES testing of 20,791 cases of type 2 diabetes and 24,440 controls

Nature, 2019, 570:71-76. IF:43.07

Sample type: Whole blood

Sample quantity:20,791 T2D patients and 24,440 control groups

Keyword: WES, identification of association loci and Type l diabetes

In May 2019, Nature published the largest known research on the exome sequencing ofmutations related to diabetes. For patients with Type II diabetes, the significance of 15 mutation loci on 7 genes reach the effect threshold of exome, and 10 loci of them are non-synonymous mutations.There are two mutations in 15 mutation loci: The association of SFI1 gene mutation and MC4R gene mutation to the Type I diabetes is not found in the GWAS research.As a method for simple and efficient screening of susceptibility gene in complete disease, WES is of great significance to the detection and analysis of Type II diabetes gene mutation, and it can be complemented with GWAS.

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