Whole Exome Sequencing

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 higher yield of relevant variants at a far lower cost than whole genome sequencing. Whole exome sequencing supports a broad range of studies for researchers, including genetic disease-related variants, complex diseases, cancer research, or human population genetics.

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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 Cases1 Application Cases2

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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