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  • Genomics
    • Human Whole Genome Sequencing
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    • Olink ProteomicsNew!
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    • Untargeted MetabolomicsComing Soon!
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    • mRNA Sequencing
    • Small RNA Sequencing (sRNA‑seq)
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    • 10X Single Cell Gene Expression
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Human Whole Genome SequencingWhole Exome SequencingPlant and Animal Whole Genome SequencingPlant and Animal De novo SequencingDNA Methylation SequencingmRNA SequencingFull-Length Transcriptome SequencingWhole Transcriptome SequencingMetatranscriptome SequencingShotgun Metagenomics SequencingAmplicon SequencingWhole Plasmid Sequencing10X Single Cell Gene Expression10X Single Cell Immune Profiling10X Visium HD Spatial Gene ExpressionOlink ProteomicsUntargeted MetabolomicsAccredited & Validated Clinical Research Sequencing
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Novogene Europe
  • Novogene Europe
  • Genomics
    • Human Whole Genome Sequencing
    • Whole Exome Sequencing
    • Plant and Animal Whole Genome Sequencing
    • Plant and Animal De novo Sequencing
    • Microbial Whole Genome Sequencing
    • Microbial De novo Sequencing
    • Whole Plasmid SequencingOrder Online!
    Proteomics
    • Olink ProteomicsNew!
    Epigenomics
    • DNA Methylation SequencingUpdated!
    • Chromatin Immunoprecipitation Sequencing (ChIP-seq)
    • RNA Immunoprecipitation Sequencing (RIP-seq)
    Metabolomics
    • Untargeted MetabolomicsComing Soon!
    Transcriptomics
    • mRNA Sequencing
    • Small RNA Sequencing (sRNA‑seq)
    • Circular RNA Sequencing (circRNA-seq)
    • Total RNA Sequencing
    • Whole Transcriptome Sequencing
    • Full-Length Transcriptome Sequencing
    • Prokaryotic RNA Sequencing
    • Metatranscriptome Sequencing
    Metagenomics
    • Amplicon SequencingOrder Online!
    • Shotgun Metagenomics Sequencing
    Single Cell & Spatial Omics
    • 10X Single Cell Gene Expression
    • 10X Single Cell Immune Profiling
    • 10X Visium HD Spatial Gene Expression
    Premade Library
    • Sequencing Only on Illumina® Sequencer
    • Sequencing Only on Element SequencerNew!
    • Sequencing Only on PacBio Sequencer
    Translational Research
    • Accredited & Validated Clinical Research Sequencing
  • PromotionsPromotions
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    • Automated Delivery Platform (Falcon)
    • Bioinformatics Analysis Tool (NovoMagic)
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    • Plant and Animal Microbiome
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    • Rare and Complex Diseases
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  • Contact UsContact Us
    • Amplicon Sequencing
    • Whole Plasmid Sequencing

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Services
Human Whole Genome SequencingWhole Exome SequencingPlant and Animal Whole Genome SequencingPlant and Animal De novo SequencingDNA Methylation SequencingmRNA SequencingFull-Length Transcriptome SequencingWhole Transcriptome SequencingMetatranscriptome SequencingShotgun Metagenomics SequencingAmplicon SequencingWhole Plasmid Sequencing10X Single Cell Gene Expression10X Single Cell Immune Profiling10X Visium HD Spatial Gene ExpressionOlink ProteomicsUntargeted MetabolomicsAccredited & Validated Clinical Research Sequencing
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Copyright © 2026 Novogene Inc. All rights reserved.For Research Use Only. Not for Clinical Diagnostic Use.
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Human Whole Genome Sequencing

Whole-genome analysis for human genetic variation, disease research, population genomics and complex disease studies.
OverviewOverview
BenefitsBenefits
ApplicationsApplications
SpecificationsSpecifications
ResourcesResources

Human whole genome sequencing (hWGS) gives researchers a genome-wide view of human genetic variation, from SNPs and indels to copy number and structural variants. It supports genomics research across inherited disease, cancer biology, population genetics and complex disease mechanisms.


Novogene Europe provides hWGS as part of its broader multi-omics service portfolio, combining high-throughput sequencing, quality control and bioinformatics support to help researchers generate reliable, analysis-ready data for human genomics studies.

Service Highlights

Broader Variant Discovery
Broader Variant Discovery

Detect SNPs, indels, copy number variants and structural variants across coding and non-coding regions for a genome-wide view of human genetic variation.

Broader Variant Discovery
Broader Variant Discovery

Detect SNPs, indels, copy number variants and structural variants across coding and non-coding regions for a genome-wide view of human genetic variation.

Flexible Sequencing Strategy
Flexible Sequencing Strategy

Select short-read or long-read sequencing based on project goals, from scalable variant detection to complex or repetitive region characterisation.

Flexible Sequencing Strategy
Flexible Sequencing Strategy

Select short-read or long-read sequencing based on project goals, from scalable variant detection to complex or repetitive region characterisation.

Consistent Data Quality
Consistent Data Quality

hWGS supports population-scale studies by enabling comparison of genetic variation across individuals, cohorts and ancestry groups at scale.

Consistent Data Quality
Consistent Data Quality

hWGS supports population-scale studies by enabling comparison of genetic variation across individuals, cohorts and ancestry groups at scale.

Bioinformatics Support
Bioinformatics Support

Bioinformatics analysis and clear data outputs support variant interpretation, population studies and disease-focused research applications.

Bioinformatics Support
Bioinformatics Support

Bioinformatics analysis and clear data outputs support variant interpretation, population studies and disease-focused research applications.

Service Highlights

Broader Variant Discovery
Broader Variant Discovery

Detect SNPs, indels, copy number variants and structural variants across coding and non-coding regions for a genome-wide view of human genetic variation.

Broader Variant Discovery
Broader Variant Discovery

Detect SNPs, indels, copy number variants and structural variants across coding and non-coding regions for a genome-wide view of human genetic variation.

Flexible Sequencing Strategy
Flexible Sequencing Strategy

Select short-read or long-read sequencing based on project goals, from scalable variant detection to complex or repetitive region characterisation.

Flexible Sequencing Strategy
Flexible Sequencing Strategy

Select short-read or long-read sequencing based on project goals, from scalable variant detection to complex or repetitive region characterisation.

Consistent Data Quality
Consistent Data Quality

hWGS supports population-scale studies by enabling comparison of genetic variation across individuals, cohorts and ancestry groups at scale.

Consistent Data Quality
Consistent Data Quality

hWGS supports population-scale studies by enabling comparison of genetic variation across individuals, cohorts and ancestry groups at scale.

Bioinformatics Support
Bioinformatics Support

Bioinformatics analysis and clear data outputs support variant interpretation, population studies and disease-focused research applications.

Bioinformatics Support
Bioinformatics Support

Bioinformatics analysis and clear data outputs support variant interpretation, population studies and disease-focused research applications.

Applications

Inherited Disease Research

hWGS can support studies of rare and inherited diseases by helping researchers investigate genetic variants associated with unexplained or complex clinical phenotypes.

Inherited Disease Research

hWGS can support studies of rare and inherited diseases by helping researchers investigate genetic variants associated with unexplained or complex clinical phenotypes.

Cancer Genomics

Whole genome data can help researchers study tumour biology, driver mutations, structural alterations and broader genomic changes involved in cancer development and progression.

Cancer Genomics

Whole genome data can help researchers study tumour biology, driver mutations, structural alterations and broader genomic changes involved in cancer development and progression.

Population Genomics

hWGS supports population-scale studies by enabling comparison of genetic variation across individuals, cohorts and ancestry groups in large datasets.

Population Genomics

hWGS supports population-scale studies by enabling comparison of genetic variation across individuals, cohorts and ancestry groups in large datasets.

Complex Disease Studies

By capturing genome-wide variation, hWGS can support research into complex disease mechanisms where multiple genetic factors may contribute to biological or clinical outcomes.

Complex Disease Studies

By capturing genome-wide variation, hWGS can support research into complex disease mechanisms where multiple genetic factors may contribute to biological or clinical outcomes.

Applications

Inherited Disease Research

hWGS can support studies of rare and inherited diseases by helping researchers investigate genetic variants associated with unexplained or complex clinical phenotypes.

Inherited Disease Research

hWGS can support studies of rare and inherited diseases by helping researchers investigate genetic variants associated with unexplained or complex clinical phenotypes.

Cancer Genomics

Whole genome data can help researchers study tumour biology, driver mutations, structural alterations and broader genomic changes involved in cancer development and progression.

Cancer Genomics

Whole genome data can help researchers study tumour biology, driver mutations, structural alterations and broader genomic changes involved in cancer development and progression.

Population Genomics

hWGS supports population-scale studies by enabling comparison of genetic variation across individuals, cohorts and ancestry groups in large datasets.

Population Genomics

hWGS supports population-scale studies by enabling comparison of genetic variation across individuals, cohorts and ancestry groups in large datasets.

Complex Disease Studies

By capturing genome-wide variation, hWGS can support research into complex disease mechanisms where multiple genetic factors may contribute to biological or clinical outcomes.

Complex Disease Studies

By capturing genome-wide variation, hWGS can support research into complex disease mechanisms where multiple genetic factors may contribute to biological or clinical outcomes.

Specifications

Sample Requirements

The quantities listed are provided for reference only. Please download the Sample Requirements for detailed guidance, or contact us to discuss your project-specific requirements.

Platform TypeSample TypeAmount (Qubit®)Purity
Illumina
NovaSeq X Plus /NovaSeq6000
Genomic DNA≥100 ngOD260/280 = 1.8-2.0.
no degradation, no contamination
Fragments longer than 1000 bp
Genomic DNA
(PCR free)
≥ 1.2 μg
Genomic DNA
from FFPE tissue
≥ 300 ngFragments longer than 1000 bp
PacBio Revio DNA HiFi libraryHMW Genomic DNA≥ 3 μgOD260/280=1.75-2.0;
OD260/230=1.5-2.6;
*NC/QC=1.0-2.2Fragments should be ≥ 30 kb
PacBio PCR product
library
PCR product≥ 2 μgOD260/280=1.75~2.0;
OD260/230=1.4~2.6;
*NC/QC=0.95~3.00; Single band
(PacBio library fragments
distributed above 1k)
Nanopore
PromethION DNA library
HMW Genomic DNA≥ 8 μgOD260/280=1.7-2.0;
OD260/230=1.3-2.6;
*NC/QC=0.95-3.00;
Fragments should be ≥ 300K, no fragments
below 30k.
Nanopore Ultra-long DNA LibraryuHMW Genomic DNA (blood and cells)≥ 30 μgOD260/280=1.7-2.0;
OD260/230=1.3-2.6;
*NC/QC=0.95-3.00;
Fragments should be ≥ 300K, no fragments
below 30k.
Nanopore PCR
product library
PCR product≥ 2 μgOD260/280=1.75~2.0;
OD260/230=1.4~2.6;
*NC/QC=0.95~3.00; Single band
*NC/QC: NanoDrop concentration/Qubit concentration

Sample Requirements

The quantities listed are provided for reference only. Please download the Sample Requirements for detailed guidance, or contact us to discuss your project-specific requirements.

Platform TypeSample TypeAmount (Qubit®)Purity
Illumina
NovaSeq X Plus /NovaSeq6000
Genomic DNA≥100 ngOD260/280 = 1.8-2.0.
no degradation, no contamination
Fragments longer than 1000 bp
Genomic DNA
(PCR free)
≥ 1.2 μg
Genomic DNA
from FFPE tissue
≥ 300 ngFragments longer than 1000 bp
PacBio Revio DNA HiFi libraryHMW Genomic DNA≥ 3 μgOD260/280=1.75-2.0;
OD260/230=1.5-2.6;
*NC/QC=1.0-2.2Fragments should be ≥ 30 kb
PacBio PCR product
library
PCR product≥ 2 μgOD260/280=1.75~2.0;
OD260/230=1.4~2.6;
*NC/QC=0.95~3.00; Single band
(PacBio library fragments
distributed above 1k)
Nanopore
PromethION DNA library
HMW Genomic DNA≥ 8 μgOD260/280=1.7-2.0;
OD260/230=1.3-2.6;
*NC/QC=0.95-3.00;
Fragments should be ≥ 300K, no fragments
below 30k.
Nanopore Ultra-long DNA LibraryuHMW Genomic DNA (blood and cells)≥ 30 μgOD260/280=1.7-2.0;
OD260/230=1.3-2.6;
*NC/QC=0.95-3.00;
Fragments should be ≥ 300K, no fragments
below 30k.
Nanopore PCR
product library
PCR product≥ 2 μgOD260/280=1.75~2.0;
OD260/230=1.4~2.6;
*NC/QC=0.95~3.00; Single band
*NC/QC: NanoDrop concentration/Qubit concentration

Sample Requirements

The quantities listed are provided for reference only. Please download the Sample Requirements for detailed guidance, or contact us to discuss your project-specific requirements.

Platform TypeSample TypeAmount (Qubit®)Purity
Illumina
NovaSeq X Plus /NovaSeq6000
Genomic DNA≥100 ngOD260/280 = 1.8-2.0.
no degradation, no contamination
Fragments longer than 1000 bp
Genomic DNA
(PCR free)
≥ 1.2 μg
Genomic DNA
from FFPE tissue
≥ 300 ngFragments longer than 1000 bp
PacBio Revio DNA HiFi libraryHMW Genomic DNA≥ 3 μgOD260/280=1.75-2.0;
OD260/230=1.5-2.6;
*NC/QC=1.0-2.2Fragments should be ≥ 30 kb
PacBio PCR product
library
PCR product≥ 2 μgOD260/280=1.75~2.0;
OD260/230=1.4~2.6;
*NC/QC=0.95~3.00; Single band
(PacBio library fragments
distributed above 1k)
Nanopore
PromethION DNA library
HMW Genomic DNA≥ 8 μgOD260/280=1.7-2.0;
OD260/230=1.3-2.6;
*NC/QC=0.95-3.00;
Fragments should be ≥ 300K, no fragments
below 30k.
Nanopore Ultra-long DNA LibraryuHMW Genomic DNA (blood and cells)≥ 30 μgOD260/280=1.7-2.0;
OD260/230=1.3-2.6;
*NC/QC=0.95-3.00;
Fragments should be ≥ 300K, no fragments
below 30k.
Nanopore PCR
product library
PCR product≥ 2 μgOD260/280=1.75~2.0;
OD260/230=1.4~2.6;
*NC/QC=0.95~3.00; Single band
*NC/QC: NanoDrop concentration/Qubit concentration

Sample Requirements

The quantities listed are provided for reference only. Please download the Sample Requirements for detailed guidance, or contact us to discuss your project-specific requirements.

Platform TypeSample TypeAmount (Qubit®)Purity
Illumina
NovaSeq X Plus /NovaSeq6000
Genomic DNA≥100 ngOD260/280 = 1.8-2.0.
no degradation, no contamination
Fragments longer than 1000 bp
Genomic DNA
(PCR free)
≥ 1.2 μg
Genomic DNA
from FFPE tissue
≥ 300 ngFragments longer than 1000 bp
PacBio Revio DNA HiFi libraryHMW Genomic DNA≥ 3 μgOD260/280=1.75-2.0;
OD260/230=1.5-2.6;
*NC/QC=1.0-2.2Fragments should be ≥ 30 kb
PacBio PCR product
library
PCR product≥ 2 μgOD260/280=1.75~2.0;
OD260/230=1.4~2.6;
*NC/QC=0.95~3.00; Single band
(PacBio library fragments
distributed above 1k)
Nanopore
PromethION DNA library
HMW Genomic DNA≥ 8 μgOD260/280=1.7-2.0;
OD260/230=1.3-2.6;
*NC/QC=0.95-3.00;
Fragments should be ≥ 300K, no fragments
below 30k.
Nanopore Ultra-long DNA LibraryuHMW Genomic DNA (blood and cells)≥ 30 μgOD260/280=1.7-2.0;
OD260/230=1.3-2.6;
*NC/QC=0.95-3.00;
Fragments should be ≥ 300K, no fragments
below 30k.
Nanopore PCR
product library
PCR product≥ 2 μgOD260/280=1.75~2.0;
OD260/230=1.4~2.6;
*NC/QC=0.95~3.00; Single band
*NC/QC: NanoDrop concentration/Qubit concentration

Sequencing and Analysis

Recommended data outputs and analysis examples are provided for reference only. For detailed information, please contact us  to discuss your project-specific analysis requirements.

Platform TypeIllumina NovaSeq X Plus PacBio RevioNanopore PromethION
Read LengthPaired-end 150 bp> 15 kb
(Average)
> 17 kb (Average)
Sequencing DepthFor rare diseases:
30-50×
For genetic diseases:
10-20×
For genetic diseases:
10-20×
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.

Sequencing and Analysis

Recommended data outputs and analysis examples are provided for reference only. For detailed information, please contact us  to discuss your project-specific analysis requirements.

Platform TypeIllumina NovaSeq X Plus PacBio RevioNanopore PromethION
Read LengthPaired-end 150 bp> 15 kb
(Average)
> 17 kb (Average)
Sequencing DepthFor rare diseases:
30-50×
For genetic diseases:
10-20×
For genetic diseases:
10-20×
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.

Sequencing and Analysis

Recommended data outputs and analysis examples are provided for reference only. For detailed information, please contact us  to discuss your project-specific analysis requirements.

Platform TypeIllumina NovaSeq X Plus PacBio RevioNanopore PromethION
Read LengthPaired-end 150 bp> 15 kb
(Average)
> 17 kb (Average)
Sequencing DepthFor rare diseases:
30-50×
For genetic diseases:
10-20×
For genetic diseases:
10-20×
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.

Sequencing and Analysis

Recommended data outputs and analysis examples are provided for reference only. For detailed information, please contact us  to discuss your project-specific analysis requirements.

Platform TypeIllumina NovaSeq X Plus PacBio RevioNanopore PromethION
Read LengthPaired-end 150 bp> 15 kb
(Average)
> 17 kb (Average)
Sequencing DepthFor rare diseases:
30-50×
For genetic diseases:
10-20×
For genetic diseases:
10-20×
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.

Specifications

Sample Requirements

The quantities listed are provided for reference only. Please download the Sample Requirements for detailed guidance, or contact us to discuss your project-specific requirements.

Platform TypeSample TypeAmount (Qubit®)Purity
Illumina
NovaSeq X Plus /NovaSeq6000
Genomic DNA≥100 ngOD260/280 = 1.8-2.0.
no degradation, no contamination
Fragments longer than 1000 bp
Genomic DNA
(PCR free)
≥ 1.2 μg
Genomic DNA
from FFPE tissue
≥ 300 ngFragments longer than 1000 bp
PacBio Revio DNA HiFi libraryHMW Genomic DNA≥ 3 μgOD260/280=1.75-2.0;
OD260/230=1.5-2.6;
*NC/QC=1.0-2.2Fragments should be ≥ 30 kb
PacBio PCR product
library
PCR product≥ 2 μgOD260/280=1.75~2.0;
OD260/230=1.4~2.6;
*NC/QC=0.95~3.00; Single band
(PacBio library fragments
distributed above 1k)
Nanopore
PromethION DNA library
HMW Genomic DNA≥ 8 μgOD260/280=1.7-2.0;
OD260/230=1.3-2.6;
*NC/QC=0.95-3.00;
Fragments should be ≥ 300K, no fragments
below 30k.
Nanopore Ultra-long DNA LibraryuHMW Genomic DNA (blood and cells)≥ 30 μgOD260/280=1.7-2.0;
OD260/230=1.3-2.6;
*NC/QC=0.95-3.00;
Fragments should be ≥ 300K, no fragments
below 30k.
Nanopore PCR
product library
PCR product≥ 2 μgOD260/280=1.75~2.0;
OD260/230=1.4~2.6;
*NC/QC=0.95~3.00; Single band
*NC/QC: NanoDrop concentration/Qubit concentration

Sample Requirements

The quantities listed are provided for reference only. Please download the Sample Requirements for detailed guidance, or contact us to discuss your project-specific requirements.

Platform TypeSample TypeAmount (Qubit®)Purity
Illumina
NovaSeq X Plus /NovaSeq6000
Genomic DNA≥100 ngOD260/280 = 1.8-2.0.
no degradation, no contamination
Fragments longer than 1000 bp
Genomic DNA
(PCR free)
≥ 1.2 μg
Genomic DNA
from FFPE tissue
≥ 300 ngFragments longer than 1000 bp
PacBio Revio DNA HiFi libraryHMW Genomic DNA≥ 3 μgOD260/280=1.75-2.0;
OD260/230=1.5-2.6;
*NC/QC=1.0-2.2Fragments should be ≥ 30 kb
PacBio PCR product
library
PCR product≥ 2 μgOD260/280=1.75~2.0;
OD260/230=1.4~2.6;
*NC/QC=0.95~3.00; Single band
(PacBio library fragments
distributed above 1k)
Nanopore
PromethION DNA library
HMW Genomic DNA≥ 8 μgOD260/280=1.7-2.0;
OD260/230=1.3-2.6;
*NC/QC=0.95-3.00;
Fragments should be ≥ 300K, no fragments
below 30k.
Nanopore Ultra-long DNA LibraryuHMW Genomic DNA (blood and cells)≥ 30 μgOD260/280=1.7-2.0;
OD260/230=1.3-2.6;
*NC/QC=0.95-3.00;
Fragments should be ≥ 300K, no fragments
below 30k.
Nanopore PCR
product library
PCR product≥ 2 μgOD260/280=1.75~2.0;
OD260/230=1.4~2.6;
*NC/QC=0.95~3.00; Single band
*NC/QC: NanoDrop concentration/Qubit concentration

Sample Requirements

The quantities listed are provided for reference only. Please download the Sample Requirements for detailed guidance, or contact us to discuss your project-specific requirements.

Platform TypeSample TypeAmount (Qubit®)Purity
Illumina
NovaSeq X Plus /NovaSeq6000
Genomic DNA≥100 ngOD260/280 = 1.8-2.0.
no degradation, no contamination
Fragments longer than 1000 bp
Genomic DNA
(PCR free)
≥ 1.2 μg
Genomic DNA
from FFPE tissue
≥ 300 ngFragments longer than 1000 bp
PacBio Revio DNA HiFi libraryHMW Genomic DNA≥ 3 μgOD260/280=1.75-2.0;
OD260/230=1.5-2.6;
*NC/QC=1.0-2.2Fragments should be ≥ 30 kb
PacBio PCR product
library
PCR product≥ 2 μgOD260/280=1.75~2.0;
OD260/230=1.4~2.6;
*NC/QC=0.95~3.00; Single band
(PacBio library fragments
distributed above 1k)
Nanopore
PromethION DNA library
HMW Genomic DNA≥ 8 μgOD260/280=1.7-2.0;
OD260/230=1.3-2.6;
*NC/QC=0.95-3.00;
Fragments should be ≥ 300K, no fragments
below 30k.
Nanopore Ultra-long DNA LibraryuHMW Genomic DNA (blood and cells)≥ 30 μgOD260/280=1.7-2.0;
OD260/230=1.3-2.6;
*NC/QC=0.95-3.00;
Fragments should be ≥ 300K, no fragments
below 30k.
Nanopore PCR
product library
PCR product≥ 2 μgOD260/280=1.75~2.0;
OD260/230=1.4~2.6;
*NC/QC=0.95~3.00; Single band
*NC/QC: NanoDrop concentration/Qubit concentration

Sample Requirements

The quantities listed are provided for reference only. Please download the Sample Requirements for detailed guidance, or contact us to discuss your project-specific requirements.

Platform TypeSample TypeAmount (Qubit®)Purity
Illumina
NovaSeq X Plus /NovaSeq6000
Genomic DNA≥100 ngOD260/280 = 1.8-2.0.
no degradation, no contamination
Fragments longer than 1000 bp
Genomic DNA
(PCR free)
≥ 1.2 μg
Genomic DNA
from FFPE tissue
≥ 300 ngFragments longer than 1000 bp
PacBio Revio DNA HiFi libraryHMW Genomic DNA≥ 3 μgOD260/280=1.75-2.0;
OD260/230=1.5-2.6;
*NC/QC=1.0-2.2Fragments should be ≥ 30 kb
PacBio PCR product
library
PCR product≥ 2 μgOD260/280=1.75~2.0;
OD260/230=1.4~2.6;
*NC/QC=0.95~3.00; Single band
(PacBio library fragments
distributed above 1k)
Nanopore
PromethION DNA library
HMW Genomic DNA≥ 8 μgOD260/280=1.7-2.0;
OD260/230=1.3-2.6;
*NC/QC=0.95-3.00;
Fragments should be ≥ 300K, no fragments
below 30k.
Nanopore Ultra-long DNA LibraryuHMW Genomic DNA (blood and cells)≥ 30 μgOD260/280=1.7-2.0;
OD260/230=1.3-2.6;
*NC/QC=0.95-3.00;
Fragments should be ≥ 300K, no fragments
below 30k.
Nanopore PCR
product library
PCR product≥ 2 μgOD260/280=1.75~2.0;
OD260/230=1.4~2.6;
*NC/QC=0.95~3.00; Single band
*NC/QC: NanoDrop concentration/Qubit concentration

Sequencing and Analysis

Recommended data outputs and analysis examples are provided for reference only. For detailed information, please contact us  to discuss your project-specific analysis requirements.

Platform TypeIllumina NovaSeq X Plus PacBio RevioNanopore PromethION
Read LengthPaired-end 150 bp> 15 kb
(Average)
> 17 kb (Average)
Sequencing DepthFor rare diseases:
30-50×
For genetic diseases:
10-20×
For genetic diseases:
10-20×
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.

Sequencing and Analysis

Recommended data outputs and analysis examples are provided for reference only. For detailed information, please contact us  to discuss your project-specific analysis requirements.

Platform TypeIllumina NovaSeq X Plus PacBio RevioNanopore PromethION
Read LengthPaired-end 150 bp> 15 kb
(Average)
> 17 kb (Average)
Sequencing DepthFor rare diseases:
30-50×
For genetic diseases:
10-20×
For genetic diseases:
10-20×
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.

Sequencing and Analysis

Recommended data outputs and analysis examples are provided for reference only. For detailed information, please contact us  to discuss your project-specific analysis requirements.

Platform TypeIllumina NovaSeq X Plus PacBio RevioNanopore PromethION
Read LengthPaired-end 150 bp> 15 kb
(Average)
> 17 kb (Average)
Sequencing DepthFor rare diseases:
30-50×
For genetic diseases:
10-20×
For genetic diseases:
10-20×
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.

Sequencing and Analysis

Recommended data outputs and analysis examples are provided for reference only. For detailed information, please contact us  to discuss your project-specific analysis requirements.

Platform TypeIllumina NovaSeq X Plus PacBio RevioNanopore PromethION
Read LengthPaired-end 150 bp> 15 kb
(Average)
> 17 kb (Average)
Sequencing DepthFor rare diseases:
30-50×
For genetic diseases:
10-20×
For genetic diseases:
10-20×
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.

Resources

Example Analysis Output

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Sequencing Depth

Review sequencing depth distribution across samples to assess data quality and analysis readiness.

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Chromosome Coverage

Assess average depth and coverage across chromosomes to evaluate sequencing uniformity.

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Genome-wide View

Visualise variant patterns across chromosomes using an integrated Circos-style summary.

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Somatic SVs

Compare somatic structural variant types across samples in tumour-normal studies.

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Mutational Signatures

Explore mutation patterns associated with cancer biology and underlying mutational processes.

Image
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1/1
Sequencing Depth

Review sequencing depth distribution across samples to assess data quality and analysis readiness.

Image
Image
1/1
Chromosome Coverage

Assess average depth and coverage across chromosomes to evaluate sequencing uniformity.

Image
Image
1/1
Genome-wide View

Visualise variant patterns across chromosomes using an integrated Circos-style summary.

Image
Image
1/1
Somatic SVs

Compare somatic structural variant types across samples in tumour-normal studies.

Image
Image
1/1
Mutational Signatures

Explore mutation patterns associated with cancer biology and underlying mutational processes.

Image
Image
1/1
Sequencing Depth

Review sequencing depth distribution across samples to assess data quality and analysis readiness.

Image
Image
1/1
Chromosome Coverage

Assess average depth and coverage across chromosomes to evaluate sequencing uniformity.

Image
Image
1/1
Genome-wide View

Visualise variant patterns across chromosomes using an integrated Circos-style summary.

Image
Image
1/1
Somatic SVs

Compare somatic structural variant types across samples in tumour-normal studies.

Image
Image
1/1
Mutational Signatures

Explore mutation patterns associated with cancer biology and underlying mutational processes.

Image
Image
1/1
Sequencing Depth

Review sequencing depth distribution across samples to assess data quality and analysis readiness.

Image
Image
1/1
Chromosome Coverage

Assess average depth and coverage across chromosomes to evaluate sequencing uniformity.

Image
Image
1/1
Genome-wide View

Visualise variant patterns across chromosomes using an integrated Circos-style summary.

Image
Image
1/1
Somatic SVs

Compare somatic structural variant types across samples in tumour-normal studies.

Image
Image
1/1
Mutational Signatures

Explore mutation patterns associated with cancer biology and underlying mutational processes.

Webinars

Getting Started with Genomics: Next Generation Sequencing Essentials for 2024

Discover the fundamentals of Next-Generation Sequencing (NGS) and learn how leading technologies such as Illumina, PacBio, and Oxford Nanopore are advancing genomic research and unlocking new possibilities in DNA analysis.

Learn More
(Getting Started with Genomics: Next Generation Sequencing Essentials for 2024)
Getting Started with Genomics: Next Generation Sequencing Essentials for 2024

Discover the fundamentals of Next-Generation Sequencing (NGS) and learn how leading technologies such as Illumina, PacBio, and Oxford Nanopore are advancing genomic research and unlocking new possibilities in DNA analysis.

Learn More
(Getting Started with Genomics: Next Generation Sequencing Essentials for 2024)
Getting Started with Genomics: Next Generation Sequencing Essentials for 2024

Discover the fundamentals of Next-Generation Sequencing (NGS) and learn how leading technologies such as Illumina, PacBio, and Oxford Nanopore are advancing genomic research and unlocking new possibilities in DNA analysis.

Learn More
(Getting Started with Genomics: Next Generation Sequencing Essentials for 2024)
Getting Started with Genomics: Next Generation Sequencing Essentials for 2024

Discover the fundamentals of Next-Generation Sequencing (NGS) and learn how leading technologies such as Illumina, PacBio, and Oxford Nanopore are advancing genomic research and unlocking new possibilities in DNA analysis.

Learn More
(Getting Started with Genomics: Next Generation Sequencing Essentials for 2024)

Frequently Asked Questions

What coverage depth do hWGS projects require?

Most germline hWGS projects use 30× coverage to support reliable detection of SNVs and InDels. Researchers often choose higher coverage when they study mosaic variants, low-frequency alleles, or clinical research samples.

Which variant types does hWGS detect?

How does hWGS differ from whole exome sequencing (WES)?

How do researchers use hWGS in rare and undiagnosed disease studies?

How do teams process and quality-control hWGS data?

How do researchers apply hWGS in population genetics studies?

How do hWGS projects scale to large cohorts?

Explore Genomics Insights

Access webinars, brochures and case studies covering sequencing technologies, study planning and data interpretation.
View Webinar Library
(Explore Genomics Insights)
View Webinar Library
(Explore Genomics Insights)
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Human Whole Genome Sequencing

Whole-genome analysis for human genetic variation, disease research, population genomics and complex disease studies.
OverviewOverview
BenefitsBenefits
ApplicationsApplications
SpecificationsSpecifications
ResourcesResources

Human whole genome sequencing (hWGS) gives researchers a genome-wide view of human genetic variation, from SNPs and indels to copy number and structural variants. It supports genomics research across inherited disease, cancer biology, population genetics and complex disease mechanisms.


Novogene Europe provides hWGS as part of its broader multi-omics service portfolio, combining high-throughput sequencing, quality control and bioinformatics support to help researchers generate reliable, analysis-ready data for human genomics studies.

Service Highlights

Broader Variant Discovery
Broader Variant Discovery

Detect SNPs, indels, copy number variants and structural variants across coding and non-coding regions for a genome-wide view of human genetic variation.

Broader Variant Discovery
Broader Variant Discovery

Detect SNPs, indels, copy number variants and structural variants across coding and non-coding regions for a genome-wide view of human genetic variation.

Flexible Sequencing Strategy
Flexible Sequencing Strategy

Select short-read or long-read sequencing based on project goals, from scalable variant detection to complex or repetitive region characterisation.

Flexible Sequencing Strategy
Flexible Sequencing Strategy

Select short-read or long-read sequencing based on project goals, from scalable variant detection to complex or repetitive region characterisation.

Consistent Data Quality
Consistent Data Quality

hWGS supports population-scale studies by enabling comparison of genetic variation across individuals, cohorts and ancestry groups at scale.

Consistent Data Quality
Consistent Data Quality

hWGS supports population-scale studies by enabling comparison of genetic variation across individuals, cohorts and ancestry groups at scale.

Bioinformatics Support
Bioinformatics Support

Bioinformatics analysis and clear data outputs support variant interpretation, population studies and disease-focused research applications.

Bioinformatics Support
Bioinformatics Support

Bioinformatics analysis and clear data outputs support variant interpretation, population studies and disease-focused research applications.

Service Highlights

Broader Variant Discovery
Broader Variant Discovery

Detect SNPs, indels, copy number variants and structural variants across coding and non-coding regions for a genome-wide view of human genetic variation.

Broader Variant Discovery
Broader Variant Discovery

Detect SNPs, indels, copy number variants and structural variants across coding and non-coding regions for a genome-wide view of human genetic variation.

Flexible Sequencing Strategy
Flexible Sequencing Strategy

Select short-read or long-read sequencing based on project goals, from scalable variant detection to complex or repetitive region characterisation.

Flexible Sequencing Strategy
Flexible Sequencing Strategy

Select short-read or long-read sequencing based on project goals, from scalable variant detection to complex or repetitive region characterisation.

Consistent Data Quality
Consistent Data Quality

hWGS supports population-scale studies by enabling comparison of genetic variation across individuals, cohorts and ancestry groups at scale.

Consistent Data Quality
Consistent Data Quality

hWGS supports population-scale studies by enabling comparison of genetic variation across individuals, cohorts and ancestry groups at scale.

Bioinformatics Support
Bioinformatics Support

Bioinformatics analysis and clear data outputs support variant interpretation, population studies and disease-focused research applications.

Bioinformatics Support
Bioinformatics Support

Bioinformatics analysis and clear data outputs support variant interpretation, population studies and disease-focused research applications.

Applications

Inherited Disease Research

hWGS can support studies of rare and inherited diseases by helping researchers investigate genetic variants associated with unexplained or complex clinical phenotypes.

Inherited Disease Research

hWGS can support studies of rare and inherited diseases by helping researchers investigate genetic variants associated with unexplained or complex clinical phenotypes.

Cancer Genomics

Whole genome data can help researchers study tumour biology, driver mutations, structural alterations and broader genomic changes involved in cancer development and progression.

Cancer Genomics

Whole genome data can help researchers study tumour biology, driver mutations, structural alterations and broader genomic changes involved in cancer development and progression.

Population Genomics

hWGS supports population-scale studies by enabling comparison of genetic variation across individuals, cohorts and ancestry groups in large datasets.

Population Genomics

hWGS supports population-scale studies by enabling comparison of genetic variation across individuals, cohorts and ancestry groups in large datasets.

Complex Disease Studies

By capturing genome-wide variation, hWGS can support research into complex disease mechanisms where multiple genetic factors may contribute to biological or clinical outcomes.

Complex Disease Studies

By capturing genome-wide variation, hWGS can support research into complex disease mechanisms where multiple genetic factors may contribute to biological or clinical outcomes.

Applications

Inherited Disease Research

hWGS can support studies of rare and inherited diseases by helping researchers investigate genetic variants associated with unexplained or complex clinical phenotypes.

Inherited Disease Research

hWGS can support studies of rare and inherited diseases by helping researchers investigate genetic variants associated with unexplained or complex clinical phenotypes.

Cancer Genomics

Whole genome data can help researchers study tumour biology, driver mutations, structural alterations and broader genomic changes involved in cancer development and progression.

Cancer Genomics

Whole genome data can help researchers study tumour biology, driver mutations, structural alterations and broader genomic changes involved in cancer development and progression.

Population Genomics

hWGS supports population-scale studies by enabling comparison of genetic variation across individuals, cohorts and ancestry groups in large datasets.

Population Genomics

hWGS supports population-scale studies by enabling comparison of genetic variation across individuals, cohorts and ancestry groups in large datasets.

Complex Disease Studies

By capturing genome-wide variation, hWGS can support research into complex disease mechanisms where multiple genetic factors may contribute to biological or clinical outcomes.

Complex Disease Studies

By capturing genome-wide variation, hWGS can support research into complex disease mechanisms where multiple genetic factors may contribute to biological or clinical outcomes.

Specifications

Sample Requirements

The quantities listed are provided for reference only. Please download the Sample Requirements for detailed guidance, or contact us to discuss your project-specific requirements.

Platform TypeSample TypeAmount (Qubit®)Purity
Illumina
NovaSeq X Plus /NovaSeq6000
Genomic DNA≥100 ngOD260/280 = 1.8-2.0.
no degradation, no contamination
Fragments longer than 1000 bp
Genomic DNA
(PCR free)
≥ 1.2 μg
Genomic DNA
from FFPE tissue
≥ 300 ngFragments longer than 1000 bp
PacBio Revio DNA HiFi libraryHMW Genomic DNA≥ 3 μgOD260/280=1.75-2.0;
OD260/230=1.5-2.6;
*NC/QC=1.0-2.2Fragments should be ≥ 30 kb
PacBio PCR product
library
PCR product≥ 2 μgOD260/280=1.75~2.0;
OD260/230=1.4~2.6;
*NC/QC=0.95~3.00; Single band
(PacBio library fragments
distributed above 1k)
Nanopore
PromethION DNA library
HMW Genomic DNA≥ 8 μgOD260/280=1.7-2.0;
OD260/230=1.3-2.6;
*NC/QC=0.95-3.00;
Fragments should be ≥ 300K, no fragments
below 30k.
Nanopore Ultra-long DNA LibraryuHMW Genomic DNA (blood and cells)≥ 30 μgOD260/280=1.7-2.0;
OD260/230=1.3-2.6;
*NC/QC=0.95-3.00;
Fragments should be ≥ 300K, no fragments
below 30k.
Nanopore PCR
product library
PCR product≥ 2 μgOD260/280=1.75~2.0;
OD260/230=1.4~2.6;
*NC/QC=0.95~3.00; Single band
*NC/QC: NanoDrop concentration/Qubit concentration

Sample Requirements

The quantities listed are provided for reference only. Please download the Sample Requirements for detailed guidance, or contact us to discuss your project-specific requirements.

Platform TypeSample TypeAmount (Qubit®)Purity
Illumina
NovaSeq X Plus /NovaSeq6000
Genomic DNA≥100 ngOD260/280 = 1.8-2.0.
no degradation, no contamination
Fragments longer than 1000 bp
Genomic DNA
(PCR free)
≥ 1.2 μg
Genomic DNA
from FFPE tissue
≥ 300 ngFragments longer than 1000 bp
PacBio Revio DNA HiFi libraryHMW Genomic DNA≥ 3 μgOD260/280=1.75-2.0;
OD260/230=1.5-2.6;
*NC/QC=1.0-2.2Fragments should be ≥ 30 kb
PacBio PCR product
library
PCR product≥ 2 μgOD260/280=1.75~2.0;
OD260/230=1.4~2.6;
*NC/QC=0.95~3.00; Single band
(PacBio library fragments
distributed above 1k)
Nanopore
PromethION DNA library
HMW Genomic DNA≥ 8 μgOD260/280=1.7-2.0;
OD260/230=1.3-2.6;
*NC/QC=0.95-3.00;
Fragments should be ≥ 300K, no fragments
below 30k.
Nanopore Ultra-long DNA LibraryuHMW Genomic DNA (blood and cells)≥ 30 μgOD260/280=1.7-2.0;
OD260/230=1.3-2.6;
*NC/QC=0.95-3.00;
Fragments should be ≥ 300K, no fragments
below 30k.
Nanopore PCR
product library
PCR product≥ 2 μgOD260/280=1.75~2.0;
OD260/230=1.4~2.6;
*NC/QC=0.95~3.00; Single band
*NC/QC: NanoDrop concentration/Qubit concentration

Sample Requirements

The quantities listed are provided for reference only. Please download the Sample Requirements for detailed guidance, or contact us to discuss your project-specific requirements.

Platform TypeSample TypeAmount (Qubit®)Purity
Illumina
NovaSeq X Plus /NovaSeq6000
Genomic DNA≥100 ngOD260/280 = 1.8-2.0.
no degradation, no contamination
Fragments longer than 1000 bp
Genomic DNA
(PCR free)
≥ 1.2 μg
Genomic DNA
from FFPE tissue
≥ 300 ngFragments longer than 1000 bp
PacBio Revio DNA HiFi libraryHMW Genomic DNA≥ 3 μgOD260/280=1.75-2.0;
OD260/230=1.5-2.6;
*NC/QC=1.0-2.2Fragments should be ≥ 30 kb
PacBio PCR product
library
PCR product≥ 2 μgOD260/280=1.75~2.0;
OD260/230=1.4~2.6;
*NC/QC=0.95~3.00; Single band
(PacBio library fragments
distributed above 1k)
Nanopore
PromethION DNA library
HMW Genomic DNA≥ 8 μgOD260/280=1.7-2.0;
OD260/230=1.3-2.6;
*NC/QC=0.95-3.00;
Fragments should be ≥ 300K, no fragments
below 30k.
Nanopore Ultra-long DNA LibraryuHMW Genomic DNA (blood and cells)≥ 30 μgOD260/280=1.7-2.0;
OD260/230=1.3-2.6;
*NC/QC=0.95-3.00;
Fragments should be ≥ 300K, no fragments
below 30k.
Nanopore PCR
product library
PCR product≥ 2 μgOD260/280=1.75~2.0;
OD260/230=1.4~2.6;
*NC/QC=0.95~3.00; Single band
*NC/QC: NanoDrop concentration/Qubit concentration

Sample Requirements

The quantities listed are provided for reference only. Please download the Sample Requirements for detailed guidance, or contact us to discuss your project-specific requirements.

Platform TypeSample TypeAmount (Qubit®)Purity
Illumina
NovaSeq X Plus /NovaSeq6000
Genomic DNA≥100 ngOD260/280 = 1.8-2.0.
no degradation, no contamination
Fragments longer than 1000 bp
Genomic DNA
(PCR free)
≥ 1.2 μg
Genomic DNA
from FFPE tissue
≥ 300 ngFragments longer than 1000 bp
PacBio Revio DNA HiFi libraryHMW Genomic DNA≥ 3 μgOD260/280=1.75-2.0;
OD260/230=1.5-2.6;
*NC/QC=1.0-2.2Fragments should be ≥ 30 kb
PacBio PCR product
library
PCR product≥ 2 μgOD260/280=1.75~2.0;
OD260/230=1.4~2.6;
*NC/QC=0.95~3.00; Single band
(PacBio library fragments
distributed above 1k)
Nanopore
PromethION DNA library
HMW Genomic DNA≥ 8 μgOD260/280=1.7-2.0;
OD260/230=1.3-2.6;
*NC/QC=0.95-3.00;
Fragments should be ≥ 300K, no fragments
below 30k.
Nanopore Ultra-long DNA LibraryuHMW Genomic DNA (blood and cells)≥ 30 μgOD260/280=1.7-2.0;
OD260/230=1.3-2.6;
*NC/QC=0.95-3.00;
Fragments should be ≥ 300K, no fragments
below 30k.
Nanopore PCR
product library
PCR product≥ 2 μgOD260/280=1.75~2.0;
OD260/230=1.4~2.6;
*NC/QC=0.95~3.00; Single band
*NC/QC: NanoDrop concentration/Qubit concentration

Sequencing and Analysis

Recommended data outputs and analysis examples are provided for reference only. For detailed information, please contact us  to discuss your project-specific analysis requirements.

Platform TypeIllumina NovaSeq X Plus PacBio RevioNanopore PromethION
Read LengthPaired-end 150 bp> 15 kb
(Average)
> 17 kb (Average)
Sequencing DepthFor rare diseases:
30-50×
For genetic diseases:
10-20×
For genetic diseases:
10-20×
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.

Sequencing and Analysis

Recommended data outputs and analysis examples are provided for reference only. For detailed information, please contact us  to discuss your project-specific analysis requirements.

Platform TypeIllumina NovaSeq X Plus PacBio RevioNanopore PromethION
Read LengthPaired-end 150 bp> 15 kb
(Average)
> 17 kb (Average)
Sequencing DepthFor rare diseases:
30-50×
For genetic diseases:
10-20×
For genetic diseases:
10-20×
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.

Sequencing and Analysis

Recommended data outputs and analysis examples are provided for reference only. For detailed information, please contact us  to discuss your project-specific analysis requirements.

Platform TypeIllumina NovaSeq X Plus PacBio RevioNanopore PromethION
Read LengthPaired-end 150 bp> 15 kb
(Average)
> 17 kb (Average)
Sequencing DepthFor rare diseases:
30-50×
For genetic diseases:
10-20×
For genetic diseases:
10-20×
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.

Sequencing and Analysis

Recommended data outputs and analysis examples are provided for reference only. For detailed information, please contact us  to discuss your project-specific analysis requirements.

Platform TypeIllumina NovaSeq X Plus PacBio RevioNanopore PromethION
Read LengthPaired-end 150 bp> 15 kb
(Average)
> 17 kb (Average)
Sequencing DepthFor rare diseases:
30-50×
For genetic diseases:
10-20×
For genetic diseases:
10-20×
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.

Specifications

Sample Requirements

The quantities listed are provided for reference only. Please download the Sample Requirements for detailed guidance, or contact us to discuss your project-specific requirements.

Platform TypeSample TypeAmount (Qubit®)Purity
Illumina
NovaSeq X Plus /NovaSeq6000
Genomic DNA≥100 ngOD260/280 = 1.8-2.0.
no degradation, no contamination
Fragments longer than 1000 bp
Genomic DNA
(PCR free)
≥ 1.2 μg
Genomic DNA
from FFPE tissue
≥ 300 ngFragments longer than 1000 bp
PacBio Revio DNA HiFi libraryHMW Genomic DNA≥ 3 μgOD260/280=1.75-2.0;
OD260/230=1.5-2.6;
*NC/QC=1.0-2.2Fragments should be ≥ 30 kb
PacBio PCR product
library
PCR product≥ 2 μgOD260/280=1.75~2.0;
OD260/230=1.4~2.6;
*NC/QC=0.95~3.00; Single band
(PacBio library fragments
distributed above 1k)
Nanopore
PromethION DNA library
HMW Genomic DNA≥ 8 μgOD260/280=1.7-2.0;
OD260/230=1.3-2.6;
*NC/QC=0.95-3.00;
Fragments should be ≥ 300K, no fragments
below 30k.
Nanopore Ultra-long DNA LibraryuHMW Genomic DNA (blood and cells)≥ 30 μgOD260/280=1.7-2.0;
OD260/230=1.3-2.6;
*NC/QC=0.95-3.00;
Fragments should be ≥ 300K, no fragments
below 30k.
Nanopore PCR
product library
PCR product≥ 2 μgOD260/280=1.75~2.0;
OD260/230=1.4~2.6;
*NC/QC=0.95~3.00; Single band
*NC/QC: NanoDrop concentration/Qubit concentration

Sample Requirements

The quantities listed are provided for reference only. Please download the Sample Requirements for detailed guidance, or contact us to discuss your project-specific requirements.

Platform TypeSample TypeAmount (Qubit®)Purity
Illumina
NovaSeq X Plus /NovaSeq6000
Genomic DNA≥100 ngOD260/280 = 1.8-2.0.
no degradation, no contamination
Fragments longer than 1000 bp
Genomic DNA
(PCR free)
≥ 1.2 μg
Genomic DNA
from FFPE tissue
≥ 300 ngFragments longer than 1000 bp
PacBio Revio DNA HiFi libraryHMW Genomic DNA≥ 3 μgOD260/280=1.75-2.0;
OD260/230=1.5-2.6;
*NC/QC=1.0-2.2Fragments should be ≥ 30 kb
PacBio PCR product
library
PCR product≥ 2 μgOD260/280=1.75~2.0;
OD260/230=1.4~2.6;
*NC/QC=0.95~3.00; Single band
(PacBio library fragments
distributed above 1k)
Nanopore
PromethION DNA library
HMW Genomic DNA≥ 8 μgOD260/280=1.7-2.0;
OD260/230=1.3-2.6;
*NC/QC=0.95-3.00;
Fragments should be ≥ 300K, no fragments
below 30k.
Nanopore Ultra-long DNA LibraryuHMW Genomic DNA (blood and cells)≥ 30 μgOD260/280=1.7-2.0;
OD260/230=1.3-2.6;
*NC/QC=0.95-3.00;
Fragments should be ≥ 300K, no fragments
below 30k.
Nanopore PCR
product library
PCR product≥ 2 μgOD260/280=1.75~2.0;
OD260/230=1.4~2.6;
*NC/QC=0.95~3.00; Single band
*NC/QC: NanoDrop concentration/Qubit concentration

Sample Requirements

The quantities listed are provided for reference only. Please download the Sample Requirements for detailed guidance, or contact us to discuss your project-specific requirements.

Platform TypeSample TypeAmount (Qubit®)Purity
Illumina
NovaSeq X Plus /NovaSeq6000
Genomic DNA≥100 ngOD260/280 = 1.8-2.0.
no degradation, no contamination
Fragments longer than 1000 bp
Genomic DNA
(PCR free)
≥ 1.2 μg
Genomic DNA
from FFPE tissue
≥ 300 ngFragments longer than 1000 bp
PacBio Revio DNA HiFi libraryHMW Genomic DNA≥ 3 μgOD260/280=1.75-2.0;
OD260/230=1.5-2.6;
*NC/QC=1.0-2.2Fragments should be ≥ 30 kb
PacBio PCR product
library
PCR product≥ 2 μgOD260/280=1.75~2.0;
OD260/230=1.4~2.6;
*NC/QC=0.95~3.00; Single band
(PacBio library fragments
distributed above 1k)
Nanopore
PromethION DNA library
HMW Genomic DNA≥ 8 μgOD260/280=1.7-2.0;
OD260/230=1.3-2.6;
*NC/QC=0.95-3.00;
Fragments should be ≥ 300K, no fragments
below 30k.
Nanopore Ultra-long DNA LibraryuHMW Genomic DNA (blood and cells)≥ 30 μgOD260/280=1.7-2.0;
OD260/230=1.3-2.6;
*NC/QC=0.95-3.00;
Fragments should be ≥ 300K, no fragments
below 30k.
Nanopore PCR
product library
PCR product≥ 2 μgOD260/280=1.75~2.0;
OD260/230=1.4~2.6;
*NC/QC=0.95~3.00; Single band
*NC/QC: NanoDrop concentration/Qubit concentration

Sample Requirements

The quantities listed are provided for reference only. Please download the Sample Requirements for detailed guidance, or contact us to discuss your project-specific requirements.

Platform TypeSample TypeAmount (Qubit®)Purity
Illumina
NovaSeq X Plus /NovaSeq6000
Genomic DNA≥100 ngOD260/280 = 1.8-2.0.
no degradation, no contamination
Fragments longer than 1000 bp
Genomic DNA
(PCR free)
≥ 1.2 μg
Genomic DNA
from FFPE tissue
≥ 300 ngFragments longer than 1000 bp
PacBio Revio DNA HiFi libraryHMW Genomic DNA≥ 3 μgOD260/280=1.75-2.0;
OD260/230=1.5-2.6;
*NC/QC=1.0-2.2Fragments should be ≥ 30 kb
PacBio PCR product
library
PCR product≥ 2 μgOD260/280=1.75~2.0;
OD260/230=1.4~2.6;
*NC/QC=0.95~3.00; Single band
(PacBio library fragments
distributed above 1k)
Nanopore
PromethION DNA library
HMW Genomic DNA≥ 8 μgOD260/280=1.7-2.0;
OD260/230=1.3-2.6;
*NC/QC=0.95-3.00;
Fragments should be ≥ 300K, no fragments
below 30k.
Nanopore Ultra-long DNA LibraryuHMW Genomic DNA (blood and cells)≥ 30 μgOD260/280=1.7-2.0;
OD260/230=1.3-2.6;
*NC/QC=0.95-3.00;
Fragments should be ≥ 300K, no fragments
below 30k.
Nanopore PCR
product library
PCR product≥ 2 μgOD260/280=1.75~2.0;
OD260/230=1.4~2.6;
*NC/QC=0.95~3.00; Single band
*NC/QC: NanoDrop concentration/Qubit concentration

Sequencing and Analysis

Recommended data outputs and analysis examples are provided for reference only. For detailed information, please contact us  to discuss your project-specific analysis requirements.

Platform TypeIllumina NovaSeq X Plus PacBio RevioNanopore PromethION
Read LengthPaired-end 150 bp> 15 kb
(Average)
> 17 kb (Average)
Sequencing DepthFor rare diseases:
30-50×
For genetic diseases:
10-20×
For genetic diseases:
10-20×
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.

Sequencing and Analysis

Recommended data outputs and analysis examples are provided for reference only. For detailed information, please contact us  to discuss your project-specific analysis requirements.

Platform TypeIllumina NovaSeq X Plus PacBio RevioNanopore PromethION
Read LengthPaired-end 150 bp> 15 kb
(Average)
> 17 kb (Average)
Sequencing DepthFor rare diseases:
30-50×
For genetic diseases:
10-20×
For genetic diseases:
10-20×
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.

Sequencing and Analysis

Recommended data outputs and analysis examples are provided for reference only. For detailed information, please contact us  to discuss your project-specific analysis requirements.

Platform TypeIllumina NovaSeq X Plus PacBio RevioNanopore PromethION
Read LengthPaired-end 150 bp> 15 kb
(Average)
> 17 kb (Average)
Sequencing DepthFor rare diseases:
30-50×
For genetic diseases:
10-20×
For genetic diseases:
10-20×
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.

Sequencing and Analysis

Recommended data outputs and analysis examples are provided for reference only. For detailed information, please contact us  to discuss your project-specific analysis requirements.

Platform TypeIllumina NovaSeq X Plus PacBio RevioNanopore PromethION
Read LengthPaired-end 150 bp> 15 kb
(Average)
> 17 kb (Average)
Sequencing DepthFor rare diseases:
30-50×
For genetic diseases:
10-20×
For genetic diseases:
10-20×
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.

Resources

Example Analysis Output

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Sequencing Depth

Review sequencing depth distribution across samples to assess data quality and analysis readiness.

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Chromosome Coverage

Assess average depth and coverage across chromosomes to evaluate sequencing uniformity.

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Genome-wide View

Visualise variant patterns across chromosomes using an integrated Circos-style summary.

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Somatic SVs

Compare somatic structural variant types across samples in tumour-normal studies.

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Mutational Signatures

Explore mutation patterns associated with cancer biology and underlying mutational processes.

Image
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1/1
Sequencing Depth

Review sequencing depth distribution across samples to assess data quality and analysis readiness.

Image
Image
1/1
Chromosome Coverage

Assess average depth and coverage across chromosomes to evaluate sequencing uniformity.

Image
Image
1/1
Genome-wide View

Visualise variant patterns across chromosomes using an integrated Circos-style summary.

Image
Image
1/1
Somatic SVs

Compare somatic structural variant types across samples in tumour-normal studies.

Image
Image
1/1
Mutational Signatures

Explore mutation patterns associated with cancer biology and underlying mutational processes.

Image
Image
1/1
Sequencing Depth

Review sequencing depth distribution across samples to assess data quality and analysis readiness.

Image
Image
1/1
Chromosome Coverage

Assess average depth and coverage across chromosomes to evaluate sequencing uniformity.

Image
Image
1/1
Genome-wide View

Visualise variant patterns across chromosomes using an integrated Circos-style summary.

Image
Image
1/1
Somatic SVs

Compare somatic structural variant types across samples in tumour-normal studies.

Image
Image
1/1
Mutational Signatures

Explore mutation patterns associated with cancer biology and underlying mutational processes.

Image
Image
1/1
Sequencing Depth

Review sequencing depth distribution across samples to assess data quality and analysis readiness.

Image
Image
1/1
Chromosome Coverage

Assess average depth and coverage across chromosomes to evaluate sequencing uniformity.

Image
Image
1/1
Genome-wide View

Visualise variant patterns across chromosomes using an integrated Circos-style summary.

Image
Image
1/1
Somatic SVs

Compare somatic structural variant types across samples in tumour-normal studies.

Image
Image
1/1
Mutational Signatures

Explore mutation patterns associated with cancer biology and underlying mutational processes.

Webinars

Getting Started with Genomics: Next Generation Sequencing Essentials for 2024

Discover the fundamentals of Next-Generation Sequencing (NGS) and learn how leading technologies such as Illumina, PacBio, and Oxford Nanopore are advancing genomic research and unlocking new possibilities in DNA analysis.

Learn More
(Getting Started with Genomics: Next Generation Sequencing Essentials for 2024)
Getting Started with Genomics: Next Generation Sequencing Essentials for 2024

Discover the fundamentals of Next-Generation Sequencing (NGS) and learn how leading technologies such as Illumina, PacBio, and Oxford Nanopore are advancing genomic research and unlocking new possibilities in DNA analysis.

Learn More
(Getting Started with Genomics: Next Generation Sequencing Essentials for 2024)
Getting Started with Genomics: Next Generation Sequencing Essentials for 2024

Discover the fundamentals of Next-Generation Sequencing (NGS) and learn how leading technologies such as Illumina, PacBio, and Oxford Nanopore are advancing genomic research and unlocking new possibilities in DNA analysis.

Learn More
(Getting Started with Genomics: Next Generation Sequencing Essentials for 2024)
Getting Started with Genomics: Next Generation Sequencing Essentials for 2024

Discover the fundamentals of Next-Generation Sequencing (NGS) and learn how leading technologies such as Illumina, PacBio, and Oxford Nanopore are advancing genomic research and unlocking new possibilities in DNA analysis.

Learn More
(Getting Started with Genomics: Next Generation Sequencing Essentials for 2024)

Frequently Asked Questions

What coverage depth do hWGS projects require?

Most germline hWGS projects use 30× coverage to support reliable detection of SNVs and InDels. Researchers often choose higher coverage when they study mosaic variants, low-frequency alleles, or clinical research samples.

Which variant types does hWGS detect?

How does hWGS differ from whole exome sequencing (WES)?

How do researchers use hWGS in rare and undiagnosed disease studies?

How do teams process and quality-control hWGS data?

How do researchers apply hWGS in population genetics studies?

How do hWGS projects scale to large cohorts?

Explore Genomics Insights

Access webinars, brochures and case studies covering sequencing technologies, study planning and data interpretation.
View Webinar Library
(Explore Genomics Insights)
View Webinar Library
(Explore Genomics Insights)
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