Human Whole Genome Sequencing

Comprehensive genome-wide sequencing to identify genetic variation and support studies of human disease, population genetics, and precision medicine.

Human whole genome sequencing (hWGS) provides a complete view of an individual’s DNA, enabling the detection of all major genetic variations, including SNPs, InDels, CNVs, and SVs, in one cost‑effective assay. With advanced expertise and robust bioinformatics, Novogene delivers high‑quality data, publication‑ready analyses, and flexible reporting to support diverse research goals.

Equipped with state‑of‑the‑art platforms such as the Illumina NovaSeq X Plus, Oxford Nanopore PromethION, and PacBio Revio, we offer rapid turnaround times and exceptional scalability, processing up to 200,000 human genomes annually. This comprehensive hWGS service supports studies in genetic diseases, oncology, pathogenesis, and population genetics, with multiple sequencing technologies ensuring accurate characterization of even the most complex genomic regions.

Why Choose Novogene for Human WGS?

Superior Sequencing Data Quality

Advanced sequencing platforms and rigorous QC processes ensure reliable, accurate, and high‑quality results.

Comprehensive Genomic Analysis

Detects SNPs, InDels, CNVs, and SVs to support research in genetic diseases, evolution, and population genetics.

Excellent Heterozygous Variant Detection

High‑depth, uniform genome coverage enables precise identification of heterozygous variants in complex conditions.

Powerful Bioinformatics & Expert Interpretation

Specialized bioinformatics teams provide customized analyses for cancer, inherited disorders, and population studies.

Fast Turnaround

High‑quality sequencing data delivered in as little as two weeks to keep your project moving forward efficiently.

Multi‑Omics Integration Capability

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

Applications of Human Whole Genome Sequencing

Unlock comprehensive insights into human genetics for hereditary disease, cancer, and population studies.

Identify Novel Disease Genes

Reveal new disorders by finding shared pathogenic mutations in affected individuals.

Advance Hereditary Disease Research

Precisely detect inherited variants to clarify mechanisms and improve genetic diagnosis.

Discover Driver Mutations in Cancer

Uncover key genomic changes that drive tumor growth and reveal new therapeutic targets.

Trace Human Ancestry and Migrations

Use population genetic patterns to map divergence timelines and migration routes.

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.

Platform Type	Sample Type	Amount (Qubit®)	Volume	Concentration	Purity
Illumina NovaSeq System	Genomic DNA	≥ 100 ng	≥20 μL	≥5 ng/μL	A260/280=1.8-2.0; no degradation, no contamination
	Genomic DNA (PCR free)	≥ 1.2 μg	≥20 μL	≥50 ng/μL	A260/280=1.8-2.0; no degradation, no contamination
	Genomic DNA from FFPE tissue	≥ 400 ng	/	/	Fragments should be ≥ 1500 bp
PacBio Revio DNA HiFi library	HMW Genomic DNA	≥ 3 μg	≥ 90 μL	≥ 40 ng/μL	A260/280=1.75-2.0; A260/230=1.5-2.6; *NC/QC=1.0-2.2 Fragments should be ≥ 30 kb
Nanopore PromethION DNA library	HMW Genomic DNA	≥ 8 μg	≥ 50 μL	≥ 100 ng/μL	A260/280=1.75-2.0; A260/230=1.4-2.6; *NC/QC=0.95~3.00 Fragments should be ≥ 30 kb
Nanopore Ultra-long DNA Library	uHMW Genomic DNA (blood and cells)	≥ 30 μg	≥ 600 μL	≥ 50 ng/μL	OD260/280=1.7-2.0; OD260/230=1.3-2.6; *NC/QC=0.95-3.00; Fragments should be ≥ 300K, no fragments below 30k.

*NC/QC: NanoDrop concentration/Qubit concentration

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.

Platform Type	Sample Type	Amount (Qubit®)	Volume	Concentration	Purity
Illumina NovaSeq System	Genomic DNA	≥ 100 ng	≥20 μL	≥5 ng/μL	A260/280=1.8-2.0; no degradation, no contamination
	Genomic DNA (PCR free)	≥ 1.2 μg	≥20 μL	≥50 ng/μL	A260/280=1.8-2.0; no degradation, no contamination
	Genomic DNA from FFPE tissue	≥ 400 ng	/	/	Fragments should be ≥ 1500 bp
PacBio Revio DNA HiFi library	HMW Genomic DNA	≥ 3 μg	≥ 90 μL	≥ 40 ng/μL	A260/280=1.75-2.0; A260/230=1.5-2.6; *NC/QC=1.0-2.2 Fragments should be ≥ 30 kb
Nanopore PromethION DNA library	HMW Genomic DNA	≥ 8 μg	≥ 50 μL	≥ 100 ng/μL	A260/280=1.75-2.0; A260/230=1.4-2.6; *NC/QC=0.95~3.00 Fragments should be ≥ 30 kb
Nanopore Ultra-long DNA Library	uHMW Genomic DNA (blood and cells)	≥ 30 μg	≥ 600 μL	≥ 50 ng/μL	OD260/280=1.7-2.0; OD260/230=1.3-2.6; *NC/QC=0.95-3.00; Fragments should be ≥ 300K, no fragments below 30k.

*NC/QC: NanoDrop concentration/Qubit concentration

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.

Platform Type	Sample Type	Amount (Qubit®)	Volume	Concentration	Purity
Illumina NovaSeq System	Genomic DNA	≥ 100 ng	≥20 μL	≥5 ng/μL	A260/280=1.8-2.0; no degradation, no contamination
	Genomic DNA (PCR free)	≥ 1.2 μg	≥20 μL	≥50 ng/μL	A260/280=1.8-2.0; no degradation, no contamination
	Genomic DNA from FFPE tissue	≥ 400 ng	/	/	Fragments should be ≥ 1500 bp
PacBio Revio DNA HiFi library	HMW Genomic DNA	≥ 3 μg	≥ 90 μL	≥ 40 ng/μL	A260/280=1.75-2.0; A260/230=1.5-2.6; *NC/QC=1.0-2.2 Fragments should be ≥ 30 kb
Nanopore PromethION DNA library	HMW Genomic DNA	≥ 8 μg	≥ 50 μL	≥ 100 ng/μL	A260/280=1.75-2.0; A260/230=1.4-2.6; *NC/QC=0.95~3.00 Fragments should be ≥ 30 kb
Nanopore Ultra-long DNA Library	uHMW Genomic DNA (blood and cells)	≥ 30 μg	≥ 600 μL	≥ 50 ng/μL	OD260/280=1.7-2.0; OD260/230=1.3-2.6; *NC/QC=0.95-3.00; Fragments should be ≥ 300K, no fragments below 30k.

*NC/QC: NanoDrop concentration/Qubit concentration

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.

Platform Type	Sample Type	Amount (Qubit®)	Volume	Concentration	Purity
Illumina NovaSeq System	Genomic DNA	≥ 100 ng	≥20 μL	≥5 ng/μL	A260/280=1.8-2.0; no degradation, no contamination
	Genomic DNA (PCR free)	≥ 1.2 μg	≥20 μL	≥50 ng/μL	A260/280=1.8-2.0; no degradation, no contamination
	Genomic DNA from FFPE tissue	≥ 400 ng	/	/	Fragments should be ≥ 1500 bp
PacBio Revio DNA HiFi library	HMW Genomic DNA	≥ 3 μg	≥ 90 μL	≥ 40 ng/μL	A260/280=1.75-2.0; A260/230=1.5-2.6; *NC/QC=1.0-2.2 Fragments should be ≥ 30 kb
Nanopore PromethION DNA library	HMW Genomic DNA	≥ 8 μg	≥ 50 μL	≥ 100 ng/μL	A260/280=1.75-2.0; A260/230=1.4-2.6; *NC/QC=0.95~3.00 Fragments should be ≥ 30 kb
Nanopore Ultra-long DNA Library	uHMW Genomic DNA (blood and cells)	≥ 30 μg	≥ 600 μL	≥ 50 ng/μL	OD260/280=1.7-2.0; OD260/230=1.3-2.6; *NC/QC=0.95-3.00; Fragments should be ≥ 300K, no fragments below 30k.

*NC/QC: NanoDrop concentration/Qubit concentration

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	PacBio Revio	Nanopore PromethION
Read Length	Paired-end 150 bp	> 15 kb (Average)	> 17 kb (Average)
Sequencing Depth	For rare diseases: 30-50×	For genetic diseases: 10-20×	For genetic diseases: 10-20×
Sequencing Depth	For tumor tissues: 50×; For adjacent normal tissues and blood: 30×	For tumor tissues: ≥20×	For tumor tissues: ≥20×
Standard Data Analysis	Data quality control Alignment with reference genome SNP/InDel/SV/CNV detection Somatic SNP/InDel/SV/CNV detection (For tumor-normal paired samples)	Data quality control Sequence alignment Structural variant (SV) detection Variation annotation

Note: Values of sequencing depths are only listed for your reference. Download the Service Specifications to learn more. For detailed information, please contact us for your customized requests.

Project Workflow

From sample preparation and library construction through sequencing, data quality control, and bioinformatics analysis, Novogene delivers a streamlined hWGS workflow supported by defined QC checkpoints and standardized procedures to ensure reliable 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	PacBio Revio	Nanopore PromethION
Read Length	Paired-end 150 bp	> 15 kb (Average)	> 17 kb (Average)
Sequencing Depth	For rare diseases: 30-50×	For genetic diseases: 10-20×	For genetic diseases: 10-20×
Sequencing Depth	For tumor tissues: 50×; For adjacent normal tissues and blood: 30×	For tumor tissues: ≥20×	For tumor tissues: ≥20×
Standard Data Analysis	Data quality control Alignment with reference genome SNP/InDel/SV/CNV detection Somatic SNP/InDel/SV/CNV detection (For tumor-normal paired samples)	Data quality control Sequence alignment Structural variant (SV) detection Variation annotation

Note: Values of sequencing depths are only listed for your reference. Download the Service Specifications to learn more. For detailed information, please contact us for your customized requests.

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	PacBio Revio	Nanopore PromethION
Read Length	Paired-end 150 bp	> 15 kb (Average)	> 17 kb (Average)
Sequencing Depth	For rare diseases: 30-50×	For genetic diseases: 10-20×	For genetic diseases: 10-20×
Sequencing Depth	For tumor tissues: 50×; For adjacent normal tissues and blood: 30×	For tumor tissues: ≥20×	For tumor tissues: ≥20×
Standard Data Analysis	Data quality control Alignment with reference genome SNP/InDel/SV/CNV detection Somatic SNP/InDel/SV/CNV detection (For tumor-normal paired samples)	Data quality control Sequence alignment Structural variant (SV) detection Variation annotation

Note: Values of sequencing depths are only listed for your reference. Download the Service Specifications to learn more. For detailed information, please contact us for your customized requests.

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	PacBio Revio	Nanopore PromethION
Read Length	Paired-end 150 bp	> 15 kb (Average)	> 17 kb (Average)
Sequencing Depth	For rare diseases: 30-50×	For genetic diseases: 10-20×	For genetic diseases: 10-20×
Sequencing Depth	For tumor tissues: 50×; For adjacent normal tissues and blood: 30×	For tumor tissues: ≥20×	For tumor tissues: ≥20×
Standard Data Analysis	Data quality control Alignment with reference genome SNP/InDel/SV/CNV detection Somatic SNP/InDel/SV/CNV detection (For tumor-normal paired samples)	Data quality control Sequence alignment Structural variant (SV) detection Variation annotation

Note: Values of sequencing depths are only listed for your reference. Download the Service Specifications to learn more. For detailed information, please contact us for your customized requests.

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.

Platform Type	Sample Type	Amount (Qubit®)	Volume	Concentration	Purity
Illumina NovaSeq System	Genomic DNA	≥ 100 ng	≥20 μL	≥5 ng/μL	A260/280=1.8-2.0; no degradation, no contamination
	Genomic DNA (PCR free)	≥ 1.2 μg	≥20 μL	≥50 ng/μL	A260/280=1.8-2.0; no degradation, no contamination
	Genomic DNA from FFPE tissue	≥ 400 ng	/	/	Fragments should be ≥ 1500 bp
PacBio Revio DNA HiFi library	HMW Genomic DNA	≥ 3 μg	≥ 90 μL	≥ 40 ng/μL	A260/280=1.75-2.0; A260/230=1.5-2.6; *NC/QC=1.0-2.2 Fragments should be ≥ 30 kb
Nanopore PromethION DNA library	HMW Genomic DNA	≥ 8 μg	≥ 50 μL	≥ 100 ng/μL	A260/280=1.75-2.0; A260/230=1.4-2.6; *NC/QC=0.95~3.00 Fragments should be ≥ 30 kb
Nanopore Ultra-long DNA Library	uHMW Genomic DNA (blood and cells)	≥ 30 μg	≥ 600 μL	≥ 50 ng/μL	OD260/280=1.7-2.0; OD260/230=1.3-2.6; *NC/QC=0.95-3.00; Fragments should be ≥ 300K, no fragments below 30k.

*NC/QC: NanoDrop concentration/Qubit concentration

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.

Platform Type	Sample Type	Amount (Qubit®)	Volume	Concentration	Purity
Illumina NovaSeq System	Genomic DNA	≥ 100 ng	≥20 μL	≥5 ng/μL	A260/280=1.8-2.0; no degradation, no contamination
	Genomic DNA (PCR free)	≥ 1.2 μg	≥20 μL	≥50 ng/μL	A260/280=1.8-2.0; no degradation, no contamination
	Genomic DNA from FFPE tissue	≥ 400 ng	/	/	Fragments should be ≥ 1500 bp
PacBio Revio DNA HiFi library	HMW Genomic DNA	≥ 3 μg	≥ 90 μL	≥ 40 ng/μL	A260/280=1.75-2.0; A260/230=1.5-2.6; *NC/QC=1.0-2.2 Fragments should be ≥ 30 kb
Nanopore PromethION DNA library	HMW Genomic DNA	≥ 8 μg	≥ 50 μL	≥ 100 ng/μL	A260/280=1.75-2.0; A260/230=1.4-2.6; *NC/QC=0.95~3.00 Fragments should be ≥ 30 kb
Nanopore Ultra-long DNA Library	uHMW Genomic DNA (blood and cells)	≥ 30 μg	≥ 600 μL	≥ 50 ng/μL	OD260/280=1.7-2.0; OD260/230=1.3-2.6; *NC/QC=0.95-3.00; Fragments should be ≥ 300K, no fragments below 30k.

*NC/QC: NanoDrop concentration/Qubit concentration

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.

Platform Type	Sample Type	Amount (Qubit®)	Volume	Concentration	Purity
Illumina NovaSeq System	Genomic DNA	≥ 100 ng	≥20 μL	≥5 ng/μL	A260/280=1.8-2.0; no degradation, no contamination
	Genomic DNA (PCR free)	≥ 1.2 μg	≥20 μL	≥50 ng/μL	A260/280=1.8-2.0; no degradation, no contamination
	Genomic DNA from FFPE tissue	≥ 400 ng	/	/	Fragments should be ≥ 1500 bp
PacBio Revio DNA HiFi library	HMW Genomic DNA	≥ 3 μg	≥ 90 μL	≥ 40 ng/μL	A260/280=1.75-2.0; A260/230=1.5-2.6; *NC/QC=1.0-2.2 Fragments should be ≥ 30 kb
Nanopore PromethION DNA library	HMW Genomic DNA	≥ 8 μg	≥ 50 μL	≥ 100 ng/μL	A260/280=1.75-2.0; A260/230=1.4-2.6; *NC/QC=0.95~3.00 Fragments should be ≥ 30 kb
Nanopore Ultra-long DNA Library	uHMW Genomic DNA (blood and cells)	≥ 30 μg	≥ 600 μL	≥ 50 ng/μL	OD260/280=1.7-2.0; OD260/230=1.3-2.6; *NC/QC=0.95-3.00; Fragments should be ≥ 300K, no fragments below 30k.

*NC/QC: NanoDrop concentration/Qubit concentration

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.

Platform Type	Sample Type	Amount (Qubit®)	Volume	Concentration	Purity
Illumina NovaSeq System	Genomic DNA	≥ 100 ng	≥20 μL	≥5 ng/μL	A260/280=1.8-2.0; no degradation, no contamination
	Genomic DNA (PCR free)	≥ 1.2 μg	≥20 μL	≥50 ng/μL	A260/280=1.8-2.0; no degradation, no contamination
	Genomic DNA from FFPE tissue	≥ 400 ng	/	/	Fragments should be ≥ 1500 bp
PacBio Revio DNA HiFi library	HMW Genomic DNA	≥ 3 μg	≥ 90 μL	≥ 40 ng/μL	A260/280=1.75-2.0; A260/230=1.5-2.6; *NC/QC=1.0-2.2 Fragments should be ≥ 30 kb
Nanopore PromethION DNA library	HMW Genomic DNA	≥ 8 μg	≥ 50 μL	≥ 100 ng/μL	A260/280=1.75-2.0; A260/230=1.4-2.6; *NC/QC=0.95~3.00 Fragments should be ≥ 30 kb
Nanopore Ultra-long DNA Library	uHMW Genomic DNA (blood and cells)	≥ 30 μg	≥ 600 μL	≥ 50 ng/μL	OD260/280=1.7-2.0; OD260/230=1.3-2.6; *NC/QC=0.95-3.00; Fragments should be ≥ 300K, no fragments below 30k.

*NC/QC: NanoDrop concentration/Qubit concentration

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	PacBio Revio	Nanopore PromethION
Read Length	Paired-end 150 bp	> 15 kb (Average)	> 17 kb (Average)
Sequencing Depth	For rare diseases: 30-50×	For genetic diseases: 10-20×	For genetic diseases: 10-20×
Sequencing Depth	For tumor tissues: 50×; For adjacent normal tissues and blood: 30×	For tumor tissues: ≥20×	For tumor tissues: ≥20×
Standard Data Analysis	Data quality control Alignment with reference genome SNP/InDel/SV/CNV detection Somatic SNP/InDel/SV/CNV detection (For tumor-normal paired samples)	Data quality control Sequence alignment Structural variant (SV) detection Variation annotation

Note: Values of sequencing depths are only listed for your reference. Download the Service Specifications to learn more. For detailed information, please contact us for your customized requests.

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	PacBio Revio	Nanopore PromethION
Read Length	Paired-end 150 bp	> 15 kb (Average)	> 17 kb (Average)
Sequencing Depth	For rare diseases: 30-50×	For genetic diseases: 10-20×	For genetic diseases: 10-20×
Sequencing Depth	For tumor tissues: 50×; For adjacent normal tissues and blood: 30×	For tumor tissues: ≥20×	For tumor tissues: ≥20×
Standard Data Analysis	Data quality control Alignment with reference genome SNP/InDel/SV/CNV detection Somatic SNP/InDel/SV/CNV detection (For tumor-normal paired samples)	Data quality control Sequence alignment Structural variant (SV) detection Variation annotation

Note: Values of sequencing depths are only listed for your reference. Download the Service Specifications to learn more. For detailed information, please contact us for your customized requests.

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	PacBio Revio	Nanopore PromethION
Read Length	Paired-end 150 bp	> 15 kb (Average)	> 17 kb (Average)
Sequencing Depth	For rare diseases: 30-50×	For genetic diseases: 10-20×	For genetic diseases: 10-20×
Sequencing Depth	For tumor tissues: 50×; For adjacent normal tissues and blood: 30×	For tumor tissues: ≥20×	For tumor tissues: ≥20×
Standard Data Analysis	Data quality control Alignment with reference genome SNP/InDel/SV/CNV detection Somatic SNP/InDel/SV/CNV detection (For tumor-normal paired samples)	Data quality control Sequence alignment Structural variant (SV) detection Variation annotation

Note: Values of sequencing depths are only listed for your reference. Download the Service Specifications to learn more. For detailed information, please contact us for your customized requests.

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	PacBio Revio	Nanopore PromethION
Read Length	Paired-end 150 bp	> 15 kb (Average)	> 17 kb (Average)
Sequencing Depth	For rare diseases: 30-50×	For genetic diseases: 10-20×	For genetic diseases: 10-20×
Sequencing Depth	For tumor tissues: 50×; For adjacent normal tissues and blood: 30×	For tumor tissues: ≥20×	For tumor tissues: ≥20×
Standard Data Analysis	Data quality control Alignment with reference genome SNP/InDel/SV/CNV detection Somatic SNP/InDel/SV/CNV detection (For tumor-normal paired samples)	Data quality control Sequence alignment Structural variant (SV) detection Variation annotation

Note: Values of sequencing depths are only listed for your reference. Download the Service Specifications to learn more. For detailed information, please contact us for your customized requests.

Project Workflow

Demo Results

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Sequencing Depth

Left: distribution of sequencing depth for all bases.

Right: cumulative distribution showing the proportion of bases above each depth.

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Chromosome-level Depth and Coverage

Average sequencing depth (bars) and genome coverage (line) for each chromosome.

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SNP Overview

Left: SNP counts across genomic regions.

Right: types of coding‑region SNPs.

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Circos Plot

Genome-wide visualization of genomic variants displayed using a Circos plot.

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Somatic Structural Variant Counts

Numbers of each structural variant type per sample.

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Predisposing Gene Landscape

Oncoprint showing mutations in the top 30 susceptibility genes across samples, with mutation totals per sample and per gene.

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Mutational Signatures

Top: mutation signature patterns.

Middle: signature proportions in each sample.

Bottom: similarity clustering between detected signatures and known reference signatures.

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