Whole Exome Sequencing

Comprehensive profiling of coding regions to identify genetic variants associated with disease research and molecular discovery.

Whole exome sequencing (WES) uses next-generation sequencing (NGS) to target the protein-coding regions of the genome, known as the exome. Although the exome represents only 1-2% of the human genome, it contains about 85% of known mutations linked to Mendelian disorders, making WES a cost-effective alternative to whole genome sequencing (WGS). By focusing on these critical regions, WES delivers deep coverage to identify germline and somatic mutations, supporting diverse research areas including genetic disorders, complex diseases, cancer, and population genetics.

Novogene offers extensive experience in whole exome sequencing with a range of commercial WES panels. Our service provides high-quality data and comprehensive bioinformatics analysis, complete with variant annotation and publication-ready figures.

Why Choose Novogene for WES?

Extensive WES Expertise

Deep experience in human and mouse whole exome sequencing, supporting major commercial panels including IDT, Agilent, Twist, and Agilent SureSelectXT Mouse Exon kits.

High-Quality, Reliable Sequencing Data

Industry-standard data quality with Q30 ≥ 85%, exceptional target region coverage, and optimized sequencing depth for sensitive mutation detection.

Advanced Bioinformatics & Publication-Ready Results

Comprehensive SNV, InDel, and CNV analyses delivered with ready-to-publish figures, powered by internationally recognized software and curated databases.

Fast Turnaround

Localized support and optimized workflows ensure rapid, reliable project delivery with consistently high data quality.

Multi-Omics Integration Capability

Seamless integration with whole genome, transcriptome, and epigenome platforms provides deeper biological and functional insights.

Applications of WES

Unlock targeted insights into the protein-coding regions of the genome for genetic disease research, cancer studies, and evolutionary analysis.

Genomic Variant Analysis in Cancer and Disease:

Enable accurate identification of exon-based genomic variants to support both research and diagnostic applications.

Pathogenic Mechanism Analysis:

Facilitate molecular characterization of disease-related mechanisms to advance understanding of complex pathologies.

Evolutionary Biology:

Obtain efficient exon-level data to investigate evolutionary patterns and assess genetic diversity across populations.

Mouse Model Disease & Drug Research:

Support mutation discovery for disease modeling and accelerate drug development in preclinical cancer studies.

Specifications

Sample Requirements

Sample amounts are listed for reference only. Download the Sample Requirements to learn more. For detailed information, please contact us with your customized requests.

Library Type	Sample Type	Amount(Qubit@)	Volume	Concentration	Purity
Human WES Library	Genomic DNA FFPE DNA cfDNA/ctDNA	≥ 300ng ≥ 400ng ≥ 40 ng	≥ 20ul ≥ 20ul ≥ 20ul	≥ 15ng/uL ≥ 15ng/uL ≥1 ng/μL	OD260/280 = 1.8-2.0; no degradation, no contamination Main peak above 3000 bp Fragments longer than 1000 bp Fragments of 170 bp or its multiples, no genomic DNA contamination
Mouse WES library	Genomic DNA	≥ 300ng	≥ 20ul	≥1 ng/μL	OD260/280 = 1.8-2.0; no degradation, no contamination

Sample Requirements

Sample amounts are listed for reference only. Download the Sample Requirements to learn more. For detailed information, please contact us with your customized requests.

Library Type	Sample Type	Amount(Qubit@)	Volume	Concentration	Purity
Human WES Library	Genomic DNA FFPE DNA cfDNA/ctDNA	≥ 300ng ≥ 400ng ≥ 40 ng	≥ 20ul ≥ 20ul ≥ 20ul	≥ 15ng/uL ≥ 15ng/uL ≥1 ng/μL	OD260/280 = 1.8-2.0; no degradation, no contamination Main peak above 3000 bp Fragments longer than 1000 bp Fragments of 170 bp or its multiples, no genomic DNA contamination
Mouse WES library	Genomic DNA	≥ 300ng	≥ 20ul	≥1 ng/μL	OD260/280 = 1.8-2.0; no degradation, no contamination

Sample Requirements

Sample amounts are listed for reference only. Download the Sample Requirements to learn more. For detailed information, please contact us with your customized requests.

Library Type	Sample Type	Amount(Qubit@)	Volume	Concentration	Purity
Human WES Library	Genomic DNA FFPE DNA cfDNA/ctDNA	≥ 300ng ≥ 400ng ≥ 40 ng	≥ 20ul ≥ 20ul ≥ 20ul	≥ 15ng/uL ≥ 15ng/uL ≥1 ng/μL	OD260/280 = 1.8-2.0; no degradation, no contamination Main peak above 3000 bp Fragments longer than 1000 bp Fragments of 170 bp or its multiples, no genomic DNA contamination
Mouse WES library	Genomic DNA	≥ 300ng	≥ 20ul	≥1 ng/μL	OD260/280 = 1.8-2.0; no degradation, no contamination

Sample Requirements

Sample amounts are listed for reference only. Download the Sample Requirements to learn more. For detailed information, please contact us with your customized requests.

Library Type	Sample Type	Amount(Qubit@)	Volume	Concentration	Purity
Human WES Library	Genomic DNA FFPE DNA cfDNA/ctDNA	≥ 300ng ≥ 400ng ≥ 40 ng	≥ 20ul ≥ 20ul ≥ 20ul	≥ 15ng/uL ≥ 15ng/uL ≥1 ng/μL	OD260/280 = 1.8-2.0; no degradation, no contamination Main peak above 3000 bp Fragments longer than 1000 bp Fragments of 170 bp or its multiples, no genomic DNA contamination
Mouse WES library	Genomic DNA	≥ 300ng	≥ 20ul	≥1 ng/μL	OD260/280 = 1.8-2.0; no degradation, no contamination

Sequencing and Analysis

Recommended data outputs and analysis contents displayed are for reference only. For detailed information, please contact us with your customized requests.

Platform Type	Illumina NovaSeq Platforms
Read Length	Paired-end 150 bp
Sequencing Depth	For Mendelian disorder/rare disease: effective sequencing depth above 50× For tumor sample: effective sequencing depth above 100×
Standard Data Analysis	Data Quality Control Alignment with Reference Genome Germline SNP and InDel calling, annotation, and statistics Somatic Variant Detection (only apply for tumor-normal paired samples) -SNP, InDel, CNV calling, annotation and statistics.

Project Workflow

Novogene’s Whole Exome Sequencing (WES) workflow begins with sample quality control to ensure DNA integrity and purity meet sequencing requirements. High‑quality samples then proceed to exome capture and library preparation, followed by library QC to confirm enrichment efficiency and fragment distribution.

Sequencing is performed using a paired‑end 150 bp (PE150) strategy on the Illumina platform to achieve the required depth for confident germline and somatic variant detection. After sequencing, raw reads undergo rigorous data quality control, alignment, and variant calling for SNPs, InDels, CNVs, and somatic variants (for tumor–normal pairs). Finally, Novogene’s bioinformatics pipeline delivers fully annotated variants and publication‑ready results.

Sequencing and Analysis

Recommended data outputs and analysis contents displayed are for reference only. For detailed information, please contact us with your customized requests.

Platform Type	Illumina NovaSeq Platforms
Read Length	Paired-end 150 bp
Sequencing Depth	For Mendelian disorder/rare disease: effective sequencing depth above 50× For tumor sample: effective sequencing depth above 100×
Standard Data Analysis	Data Quality Control Alignment with Reference Genome Germline SNP and InDel calling, annotation, and statistics Somatic Variant Detection (only apply for tumor-normal paired samples) -SNP, InDel, CNV calling, annotation and statistics.

Project Workflow

Sequencing and Analysis

Recommended data outputs and analysis contents displayed are for reference only. For detailed information, please contact us with your customized requests.

Platform Type	Illumina NovaSeq Platforms
Read Length	Paired-end 150 bp
Sequencing Depth	For Mendelian disorder/rare disease: effective sequencing depth above 50× For tumor sample: effective sequencing depth above 100×
Standard Data Analysis	Data Quality Control Alignment with Reference Genome Germline SNP and InDel calling, annotation, and statistics Somatic Variant Detection (only apply for tumor-normal paired samples) -SNP, InDel, CNV calling, annotation and statistics.

Project Workflow

Sequencing and Analysis

Recommended data outputs and analysis contents displayed are for reference only. For detailed information, please contact us with your customized requests.

Platform Type	Illumina NovaSeq Platforms
Read Length	Paired-end 150 bp
Sequencing Depth	For Mendelian disorder/rare disease: effective sequencing depth above 50× For tumor sample: effective sequencing depth above 100×
Standard Data Analysis	Data Quality Control Alignment with Reference Genome Germline SNP and InDel calling, annotation, and statistics Somatic Variant Detection (only apply for tumor-normal paired samples) -SNP, InDel, CNV calling, annotation and statistics.

Project Workflow

Specifications

Sample Requirements

Sample amounts are listed for reference only. Download the Sample Requirements to learn more. For detailed information, please contact us with your customized requests.

Library Type	Sample Type	Amount(Qubit@)	Volume	Concentration	Purity
Human WES Library	Genomic DNA FFPE DNA cfDNA/ctDNA	≥ 300ng ≥ 400ng ≥ 40 ng	≥ 20ul ≥ 20ul ≥ 20ul	≥ 15ng/uL ≥ 15ng/uL ≥1 ng/μL	OD260/280 = 1.8-2.0; no degradation, no contamination Main peak above 3000 bp Fragments longer than 1000 bp Fragments of 170 bp or its multiples, no genomic DNA contamination
Mouse WES library	Genomic DNA	≥ 300ng	≥ 20ul	≥1 ng/μL	OD260/280 = 1.8-2.0; no degradation, no contamination

Sample Requirements

Sample amounts are listed for reference only. Download the Sample Requirements to learn more. For detailed information, please contact us with your customized requests.

Library Type	Sample Type	Amount(Qubit@)	Volume	Concentration	Purity
Human WES Library	Genomic DNA FFPE DNA cfDNA/ctDNA	≥ 300ng ≥ 400ng ≥ 40 ng	≥ 20ul ≥ 20ul ≥ 20ul	≥ 15ng/uL ≥ 15ng/uL ≥1 ng/μL	OD260/280 = 1.8-2.0; no degradation, no contamination Main peak above 3000 bp Fragments longer than 1000 bp Fragments of 170 bp or its multiples, no genomic DNA contamination
Mouse WES library	Genomic DNA	≥ 300ng	≥ 20ul	≥1 ng/μL	OD260/280 = 1.8-2.0; no degradation, no contamination

Sample Requirements

Sample amounts are listed for reference only. Download the Sample Requirements to learn more. For detailed information, please contact us with your customized requests.

Library Type	Sample Type	Amount(Qubit@)	Volume	Concentration	Purity
Human WES Library	Genomic DNA FFPE DNA cfDNA/ctDNA	≥ 300ng ≥ 400ng ≥ 40 ng	≥ 20ul ≥ 20ul ≥ 20ul	≥ 15ng/uL ≥ 15ng/uL ≥1 ng/μL	OD260/280 = 1.8-2.0; no degradation, no contamination Main peak above 3000 bp Fragments longer than 1000 bp Fragments of 170 bp or its multiples, no genomic DNA contamination
Mouse WES library	Genomic DNA	≥ 300ng	≥ 20ul	≥1 ng/μL	OD260/280 = 1.8-2.0; no degradation, no contamination

Sample Requirements

Sample amounts are listed for reference only. Download the Sample Requirements to learn more. For detailed information, please contact us with your customized requests.

Library Type	Sample Type	Amount(Qubit@)	Volume	Concentration	Purity
Human WES Library	Genomic DNA FFPE DNA cfDNA/ctDNA	≥ 300ng ≥ 400ng ≥ 40 ng	≥ 20ul ≥ 20ul ≥ 20ul	≥ 15ng/uL ≥ 15ng/uL ≥1 ng/μL	OD260/280 = 1.8-2.0; no degradation, no contamination Main peak above 3000 bp Fragments longer than 1000 bp Fragments of 170 bp or its multiples, no genomic DNA contamination
Mouse WES library	Genomic DNA	≥ 300ng	≥ 20ul	≥1 ng/μL	OD260/280 = 1.8-2.0; no degradation, no contamination

Sequencing and Analysis

Recommended data outputs and analysis contents displayed are for reference only. For detailed information, please contact us with your customized requests.

Platform Type	Illumina NovaSeq Platforms
Read Length	Paired-end 150 bp
Sequencing Depth	For Mendelian disorder/rare disease: effective sequencing depth above 50× For tumor sample: effective sequencing depth above 100×
Standard Data Analysis	Data Quality Control Alignment with Reference Genome Germline SNP and InDel calling, annotation, and statistics Somatic Variant Detection (only apply for tumor-normal paired samples) -SNP, InDel, CNV calling, annotation and statistics.

Project Workflow

Sequencing and Analysis

Recommended data outputs and analysis contents displayed are for reference only. For detailed information, please contact us with your customized requests.

Platform Type	Illumina NovaSeq Platforms
Read Length	Paired-end 150 bp
Sequencing Depth	For Mendelian disorder/rare disease: effective sequencing depth above 50× For tumor sample: effective sequencing depth above 100×
Standard Data Analysis	Data Quality Control Alignment with Reference Genome Germline SNP and InDel calling, annotation, and statistics Somatic Variant Detection (only apply for tumor-normal paired samples) -SNP, InDel, CNV calling, annotation and statistics.

Project Workflow

Sequencing and Analysis

Recommended data outputs and analysis contents displayed are for reference only. For detailed information, please contact us with your customized requests.

Platform Type	Illumina NovaSeq Platforms
Read Length	Paired-end 150 bp
Sequencing Depth	For Mendelian disorder/rare disease: effective sequencing depth above 50× For tumor sample: effective sequencing depth above 100×
Standard Data Analysis	Data Quality Control Alignment with Reference Genome Germline SNP and InDel calling, annotation, and statistics Somatic Variant Detection (only apply for tumor-normal paired samples) -SNP, InDel, CNV calling, annotation and statistics.

Project Workflow

Sequencing and Analysis

Recommended data outputs and analysis contents displayed are for reference only. For detailed information, please contact us with your customized requests.

Platform Type	Illumina NovaSeq Platforms
Read Length	Paired-end 150 bp
Sequencing Depth	For Mendelian disorder/rare disease: effective sequencing depth above 50× For tumor sample: effective sequencing depth above 100×
Standard Data Analysis	Data Quality Control Alignment with Reference Genome Germline SNP and InDel calling, annotation, and statistics Somatic Variant Detection (only apply for tumor-normal paired samples) -SNP, InDel, CNV calling, annotation and statistics.

Project Workflow

Demo Results

1/1

Phenolyzer Analysis

Using client-provided disease terms, Phenolyzer integrates sequencing data with multiple databases to rank genes by disease relevance, visualized through gene-phenotype correlation diagrams.

1/1

Mutational Spectrum & Signature Analysis

Based on somatic SNVs, this analysis quantifies substitution patterns (e.g., C>A/G>T) across tumor samples, providing insights into mutational processes driving cancer development.

1/1

Oncodrive-Driven Gene Prediction

We integrate three approaches, significantly mutated genes (SMG), mutation clustering bias, and functional impact, to comprehensively predict cancer driver genes.

More Services

Human Whole Genome Sequencing

mRNA Sequencing

Whole Transcriptome Sequencing

Untargeted Metabolomics

Ready to Start Your Project?

Our platform offers tailored solutions for

your unique experimental needs, ensuring a seamless experience from project design to data delivery.

Whole Exome Sequencing

Comprehensive profiling of coding regions to identify genetic variants associated with disease research and molecular discovery.

Why Choose Novogene for WES?

Extensive WES Expertise

Deep experience in human and mouse whole exome sequencing, supporting major commercial panels including IDT, Agilent, Twist, and Agilent SureSelectXT Mouse Exon kits.

High-Quality, Reliable Sequencing Data

Industry-standard data quality with Q30 ≥ 85%, exceptional target region coverage, and optimized sequencing depth for sensitive mutation detection.

Advanced Bioinformatics & Publication-Ready Results

Comprehensive SNV, InDel, and CNV analyses delivered with ready-to-publish figures, powered by internationally recognized software and curated databases.

Fast Turnaround

Localized support and optimized workflows ensure rapid, reliable project delivery with consistently high data quality.

Multi-Omics Integration Capability

Seamless integration with whole genome, transcriptome, and epigenome platforms provides deeper biological and functional insights.

Applications of WES

Unlock targeted insights into the protein-coding regions of the genome for genetic disease research, cancer studies, and evolutionary analysis.

Genomic Variant Analysis in Cancer and Disease:

Enable accurate identification of exon-based genomic variants to support both research and diagnostic applications.

Pathogenic Mechanism Analysis:

Facilitate molecular characterization of disease-related mechanisms to advance understanding of complex pathologies.

Evolutionary Biology:

Obtain efficient exon-level data to investigate evolutionary patterns and assess genetic diversity across populations.

Mouse Model Disease & Drug Research:

Support mutation discovery for disease modeling and accelerate drug development in preclinical cancer studies.

Specifications

Sample Requirements

Sample amounts are listed for reference only. Download the Sample Requirements to learn more. For detailed information, please contact us with your customized requests.

Library Type	Sample Type	Amount(Qubit@)	Volume	Concentration	Purity
Human WES Library	Genomic DNA FFPE DNA cfDNA/ctDNA	≥ 300ng ≥ 400ng ≥ 40 ng	≥ 20ul ≥ 20ul ≥ 20ul	≥ 15ng/uL ≥ 15ng/uL ≥1 ng/μL	OD260/280 = 1.8-2.0; no degradation, no contamination Main peak above 3000 bp Fragments longer than 1000 bp Fragments of 170 bp or its multiples, no genomic DNA contamination
Mouse WES library	Genomic DNA	≥ 300ng	≥ 20ul	≥1 ng/μL	OD260/280 = 1.8-2.0; no degradation, no contamination

Sample Requirements

Sample amounts are listed for reference only. Download the Sample Requirements to learn more. For detailed information, please contact us with your customized requests.

Library Type	Sample Type	Amount(Qubit@)	Volume	Concentration	Purity
Human WES Library	Genomic DNA FFPE DNA cfDNA/ctDNA	≥ 300ng ≥ 400ng ≥ 40 ng	≥ 20ul ≥ 20ul ≥ 20ul	≥ 15ng/uL ≥ 15ng/uL ≥1 ng/μL	OD260/280 = 1.8-2.0; no degradation, no contamination Main peak above 3000 bp Fragments longer than 1000 bp Fragments of 170 bp or its multiples, no genomic DNA contamination
Mouse WES library	Genomic DNA	≥ 300ng	≥ 20ul	≥1 ng/μL	OD260/280 = 1.8-2.0; no degradation, no contamination

Sample Requirements

Sample amounts are listed for reference only. Download the Sample Requirements to learn more. For detailed information, please contact us with your customized requests.

Library Type	Sample Type	Amount(Qubit@)	Volume	Concentration	Purity
Human WES Library	Genomic DNA FFPE DNA cfDNA/ctDNA	≥ 300ng ≥ 400ng ≥ 40 ng	≥ 20ul ≥ 20ul ≥ 20ul	≥ 15ng/uL ≥ 15ng/uL ≥1 ng/μL	OD260/280 = 1.8-2.0; no degradation, no contamination Main peak above 3000 bp Fragments longer than 1000 bp Fragments of 170 bp or its multiples, no genomic DNA contamination
Mouse WES library	Genomic DNA	≥ 300ng	≥ 20ul	≥1 ng/μL	OD260/280 = 1.8-2.0; no degradation, no contamination

Sample Requirements

Sample amounts are listed for reference only. Download the Sample Requirements to learn more. For detailed information, please contact us with your customized requests.

Library Type	Sample Type	Amount(Qubit@)	Volume	Concentration	Purity
Human WES Library	Genomic DNA FFPE DNA cfDNA/ctDNA	≥ 300ng ≥ 400ng ≥ 40 ng	≥ 20ul ≥ 20ul ≥ 20ul	≥ 15ng/uL ≥ 15ng/uL ≥1 ng/μL	OD260/280 = 1.8-2.0; no degradation, no contamination Main peak above 3000 bp Fragments longer than 1000 bp Fragments of 170 bp or its multiples, no genomic DNA contamination
Mouse WES library	Genomic DNA	≥ 300ng	≥ 20ul	≥1 ng/μL	OD260/280 = 1.8-2.0; no degradation, no contamination

Sequencing and Analysis

Recommended data outputs and analysis contents displayed are for reference only. For detailed information, please contact us with your customized requests.

Platform Type	Illumina NovaSeq Platforms
Read Length	Paired-end 150 bp
Sequencing Depth	For Mendelian disorder/rare disease: effective sequencing depth above 50× For tumor sample: effective sequencing depth above 100×
Standard Data Analysis	Data Quality Control Alignment with Reference Genome Germline SNP and InDel calling, annotation, and statistics Somatic Variant Detection (only apply for tumor-normal paired samples) -SNP, InDel, CNV calling, annotation and statistics.

Project Workflow

Sequencing and Analysis

Recommended data outputs and analysis contents displayed are for reference only. For detailed information, please contact us with your customized requests.

Platform Type	Illumina NovaSeq Platforms
Read Length	Paired-end 150 bp
Sequencing Depth	For Mendelian disorder/rare disease: effective sequencing depth above 50× For tumor sample: effective sequencing depth above 100×
Standard Data Analysis	Data Quality Control Alignment with Reference Genome Germline SNP and InDel calling, annotation, and statistics Somatic Variant Detection (only apply for tumor-normal paired samples) -SNP, InDel, CNV calling, annotation and statistics.

Project Workflow

Sequencing and Analysis

Recommended data outputs and analysis contents displayed are for reference only. For detailed information, please contact us with your customized requests.

Platform Type	Illumina NovaSeq Platforms
Read Length	Paired-end 150 bp
Sequencing Depth	For Mendelian disorder/rare disease: effective sequencing depth above 50× For tumor sample: effective sequencing depth above 100×
Standard Data Analysis	Data Quality Control Alignment with Reference Genome Germline SNP and InDel calling, annotation, and statistics Somatic Variant Detection (only apply for tumor-normal paired samples) -SNP, InDel, CNV calling, annotation and statistics.

Project Workflow

Sequencing and Analysis

Recommended data outputs and analysis contents displayed are for reference only. For detailed information, please contact us with your customized requests.

Platform Type	Illumina NovaSeq Platforms
Read Length	Paired-end 150 bp
Sequencing Depth	For Mendelian disorder/rare disease: effective sequencing depth above 50× For tumor sample: effective sequencing depth above 100×
Standard Data Analysis	Data Quality Control Alignment with Reference Genome Germline SNP and InDel calling, annotation, and statistics Somatic Variant Detection (only apply for tumor-normal paired samples) -SNP, InDel, CNV calling, annotation and statistics.

Project Workflow

Specifications

Sample Requirements

Sample amounts are listed for reference only. Download the Sample Requirements to learn more. For detailed information, please contact us with your customized requests.

Library Type	Sample Type	Amount(Qubit@)	Volume	Concentration	Purity
Human WES Library	Genomic DNA FFPE DNA cfDNA/ctDNA	≥ 300ng ≥ 400ng ≥ 40 ng	≥ 20ul ≥ 20ul ≥ 20ul	≥ 15ng/uL ≥ 15ng/uL ≥1 ng/μL	OD260/280 = 1.8-2.0; no degradation, no contamination Main peak above 3000 bp Fragments longer than 1000 bp Fragments of 170 bp or its multiples, no genomic DNA contamination
Mouse WES library	Genomic DNA	≥ 300ng	≥ 20ul	≥1 ng/μL	OD260/280 = 1.8-2.0; no degradation, no contamination

Sample Requirements

Sample amounts are listed for reference only. Download the Sample Requirements to learn more. For detailed information, please contact us with your customized requests.

Library Type	Sample Type	Amount(Qubit@)	Volume	Concentration	Purity
Human WES Library	Genomic DNA FFPE DNA cfDNA/ctDNA	≥ 300ng ≥ 400ng ≥ 40 ng	≥ 20ul ≥ 20ul ≥ 20ul	≥ 15ng/uL ≥ 15ng/uL ≥1 ng/μL	OD260/280 = 1.8-2.0; no degradation, no contamination Main peak above 3000 bp Fragments longer than 1000 bp Fragments of 170 bp or its multiples, no genomic DNA contamination
Mouse WES library	Genomic DNA	≥ 300ng	≥ 20ul	≥1 ng/μL	OD260/280 = 1.8-2.0; no degradation, no contamination

Sample Requirements

Sample amounts are listed for reference only. Download the Sample Requirements to learn more. For detailed information, please contact us with your customized requests.

Library Type	Sample Type	Amount(Qubit@)	Volume	Concentration	Purity
Human WES Library	Genomic DNA FFPE DNA cfDNA/ctDNA	≥ 300ng ≥ 400ng ≥ 40 ng	≥ 20ul ≥ 20ul ≥ 20ul	≥ 15ng/uL ≥ 15ng/uL ≥1 ng/μL	OD260/280 = 1.8-2.0; no degradation, no contamination Main peak above 3000 bp Fragments longer than 1000 bp Fragments of 170 bp or its multiples, no genomic DNA contamination
Mouse WES library	Genomic DNA	≥ 300ng	≥ 20ul	≥1 ng/μL	OD260/280 = 1.8-2.0; no degradation, no contamination

Sample Requirements

Sample amounts are listed for reference only. Download the Sample Requirements to learn more. For detailed information, please contact us with your customized requests.

Library Type	Sample Type	Amount(Qubit@)	Volume	Concentration	Purity
Human WES Library	Genomic DNA FFPE DNA cfDNA/ctDNA	≥ 300ng ≥ 400ng ≥ 40 ng	≥ 20ul ≥ 20ul ≥ 20ul	≥ 15ng/uL ≥ 15ng/uL ≥1 ng/μL	OD260/280 = 1.8-2.0; no degradation, no contamination Main peak above 3000 bp Fragments longer than 1000 bp Fragments of 170 bp or its multiples, no genomic DNA contamination
Mouse WES library	Genomic DNA	≥ 300ng	≥ 20ul	≥1 ng/μL	OD260/280 = 1.8-2.0; no degradation, no contamination

Sequencing and Analysis

Recommended data outputs and analysis contents displayed are for reference only. For detailed information, please contact us with your customized requests.

Platform Type	Illumina NovaSeq Platforms
Read Length	Paired-end 150 bp
Sequencing Depth	For Mendelian disorder/rare disease: effective sequencing depth above 50× For tumor sample: effective sequencing depth above 100×
Standard Data Analysis	Data Quality Control Alignment with Reference Genome Germline SNP and InDel calling, annotation, and statistics Somatic Variant Detection (only apply for tumor-normal paired samples) -SNP, InDel, CNV calling, annotation and statistics.

Project Workflow

Sequencing and Analysis

Recommended data outputs and analysis contents displayed are for reference only. For detailed information, please contact us with your customized requests.

Platform Type	Illumina NovaSeq Platforms
Read Length	Paired-end 150 bp
Sequencing Depth	For Mendelian disorder/rare disease: effective sequencing depth above 50× For tumor sample: effective sequencing depth above 100×
Standard Data Analysis	Data Quality Control Alignment with Reference Genome Germline SNP and InDel calling, annotation, and statistics Somatic Variant Detection (only apply for tumor-normal paired samples) -SNP, InDel, CNV calling, annotation and statistics.

Project Workflow

Sequencing and Analysis

Recommended data outputs and analysis contents displayed are for reference only. For detailed information, please contact us with your customized requests.

Platform Type	Illumina NovaSeq Platforms
Read Length	Paired-end 150 bp
Sequencing Depth	For Mendelian disorder/rare disease: effective sequencing depth above 50× For tumor sample: effective sequencing depth above 100×
Standard Data Analysis	Data Quality Control Alignment with Reference Genome Germline SNP and InDel calling, annotation, and statistics Somatic Variant Detection (only apply for tumor-normal paired samples) -SNP, InDel, CNV calling, annotation and statistics.

Project Workflow

Sequencing and Analysis

Recommended data outputs and analysis contents displayed are for reference only. For detailed information, please contact us with your customized requests.

Platform Type	Illumina NovaSeq Platforms
Read Length	Paired-end 150 bp
Sequencing Depth	For Mendelian disorder/rare disease: effective sequencing depth above 50× For tumor sample: effective sequencing depth above 100×
Standard Data Analysis	Data Quality Control Alignment with Reference Genome Germline SNP and InDel calling, annotation, and statistics Somatic Variant Detection (only apply for tumor-normal paired samples) -SNP, InDel, CNV calling, annotation and statistics.

Project Workflow

Demo Results

1/1

Phenolyzer Analysis

Using client-provided disease terms, Phenolyzer integrates sequencing data with multiple databases to rank genes by disease relevance, visualized through gene-phenotype correlation diagrams.

1/1

Mutational Spectrum & Signature Analysis

Based on somatic SNVs, this analysis quantifies substitution patterns (e.g., C>A/G>T) across tumor samples, providing insights into mutational processes driving cancer development.

1/1

Oncodrive-Driven Gene Prediction

We integrate three approaches, significantly mutated genes (SMG), mutation clustering bias, and functional impact, to comprehensively predict cancer driver genes.

More Services

Human Whole Genome Sequencing

mRNA Sequencing

Whole Transcriptome Sequencing

Untargeted Metabolomics

Ready to Start Your Project?

Our platform offers tailored solutions for

your unique experimental needs, ensuring a seamless experience from project design to data delivery.