Human Whole Genome Sequencing

Human whole genome sequencing (hWGS) provides a broad, unbiased view of the human genome for both germline and somatic variant discovery. A single assay detects SNPs, InDels, structural variants (SVs) and copy number variants (CNVs) across coding and non coding regions, offering comprehensive resolution for studies in rare and inherited diseases, cancer genomics, population genetics, pharmacogenomics, and the development or validation of new analytical methods.

Novogene supports projects of all scales, from individual samples to large cohort programs, using robust QC checkpoints, validated workflows, and flexible sequencing strategies. Researchers can choose between short read and long read approaches on leading platforms including Illumina NovaSeq X Plus, Oxford Nanopore PromethION, and PacBio Revio. This multi technology framework enables tailored study designs that improve SV detection, clarify variant interpretation in highly repetitive or polymorphic regions, and streamline high throughput sequencing needs.

Deliverables may include FASTQ, BAM/CRAM, VCF, and clear analysis summaries with publication ready outputs. Optional bioinformatics support extends from standard pipelines to more advanced interpretation, helping teams transition efficiently from raw data to meaningful, actionable insights.

Benefits of Novogene Human Whole Genome Sequencing (hWGS)

High Quality Data Delivery

Robust QC checkpoints and transparent delivery metrics ensure accurate, reliable data aligned with project requirements.

Flexible Short Read and Long Read Sequencing

Choose short read or long read options on leading platforms, enabling optimized detection even in complex or repetitive regions.

Excellent Variant Detection

High depth, uniform coverage delivers strong performance for heterozygous variants.

Comprehensive Bioinformatics and Expert Interpretation

End to end outputs paired with optional advanced bioinformatics analysis and publication ready figures.

Scalable Project Support

Standardized coordination and documentation streamline both pilot scale and cohort scale hWGS projects.

Applications of Human Whole Genome Sequencing

Human whole genome sequencing (hWGS) supports a wide range of research needs, providing genome wide visibility into genetic diseases, cancer biology, pathogenesis mechanisms, and human population history.

Identifying Novel Disease Genes

Sequencing individuals with similar unexplained syndromes helps researchers pinpoint shared pathogenic variants, enabling discovery of new rare disease genes and expanding understanding of inherited disorders.

Detecting Cancer Driver Mutations

hWGS can identify driver mutations that promote tumor growth, distinguishing causative changes from background variants and uncovering novel pathways in cancer genomics.

Understanding Virulence and Antibiotic Resistance

By comparing genomes across strains, WGS reveals genetic determinants of virulence, antibiotic resistance, and host adaptation—providing insight into the molecular basis of pathogenesis.

Tracing Human Population Origins and Migration

Genome wide variant comparisons help reconstruct population genetics, ancestry, admixture, and ancient migration routes, enabling deeper study of human evolutionary history.

Applications of Human Whole Genome Sequencing

Identifying Novel Disease Genes

Detecting Cancer Driver Mutations

hWGS can identify driver mutations that promote tumor growth, distinguishing causative changes from background variants and uncovering novel pathways in cancer genomics.

Understanding Virulence and Antibiotic Resistance

By comparing genomes across strains, WGS reveals genetic determinants of virulence, antibiotic resistance, and host adaptation—providing insight into the molecular basis of pathogenesis.

Tracing Human Population Origins and Migration

Genome wide variant comparisons help reconstruct population genetics, ancestry, admixture, and ancient migration routes, enabling deeper study of human evolutionary history.

Specifications

Sample Requirements

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

*NC/QC: NanoDrop concentration/Qubit concentration

Platform Type	Sample Type	Amount (Qubit®)	Purity
Illumina NovaSeq X Plus	Genomic DNA	≥ 100 ng	A260/280=1.8-2.0; no degradation, no contamination
	Genomic DNA (PCR free)	≥ 1 μg	A260/280=1.8-2.0; no degradation, no contamination
	Genomic DNA from FFPE tissue	≥ 300 ng	Fragments should be ≥ 1500 bp
PacBio Revio DNA HiFi library	HMW Genomic DNA	≥ 3 μg	A260/280=1.75-2.0; A260/230=1.5-2.6; *NC/QC=1.0-2.2; Fragments should be ≥ 30 kb
PacBio PCR product library	PCR product	≥ 2 μg	OD260/280=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 μg	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	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.
Nanopore PCR product library	PCR product	≥ 2 μg	OD260/280=1.75~2.0; OD260/230=1.4~2.6; *NC/QC=0.95~3.00; Single band

Sample Requirements

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

*NC/QC: NanoDrop concentration/Qubit concentration

Platform Type	Sample Type	Amount (Qubit®)	Purity
Illumina NovaSeq X Plus	Genomic DNA	≥ 100 ng	A260/280=1.8-2.0; no degradation, no contamination
	Genomic DNA (PCR free)	≥ 1 μg	A260/280=1.8-2.0; no degradation, no contamination
	Genomic DNA from FFPE tissue	≥ 300 ng	Fragments should be ≥ 1500 bp
PacBio Revio DNA HiFi library	HMW Genomic DNA	≥ 3 μg	A260/280=1.75-2.0; A260/230=1.5-2.6; *NC/QC=1.0-2.2; Fragments should be ≥ 30 kb
PacBio PCR product library	PCR product	≥ 2 μg	OD260/280=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 μg	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	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.
Nanopore PCR product library	PCR product	≥ 2 μg	OD260/280=1.75~2.0; OD260/230=1.4~2.6; *NC/QC=0.95~3.00; Single band

Sample Requirements

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

*NC/QC: NanoDrop concentration/Qubit concentration

Platform Type	Sample Type	Amount (Qubit®)	Purity
Illumina NovaSeq X Plus	Genomic DNA	≥ 100 ng	A260/280=1.8-2.0; no degradation, no contamination
	Genomic DNA (PCR free)	≥ 1 μg	A260/280=1.8-2.0; no degradation, no contamination
	Genomic DNA from FFPE tissue	≥ 300 ng	Fragments should be ≥ 1500 bp
PacBio Revio DNA HiFi library	HMW Genomic DNA	≥ 3 μg	A260/280=1.75-2.0; A260/230=1.5-2.6; *NC/QC=1.0-2.2; Fragments should be ≥ 30 kb
PacBio PCR product library	PCR product	≥ 2 μg	OD260/280=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 μg	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	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.
Nanopore PCR product library	PCR product	≥ 2 μg	OD260/280=1.75~2.0; OD260/230=1.4~2.6; *NC/QC=0.95~3.00; Single band

Sample Requirements

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

*NC/QC: NanoDrop concentration/Qubit concentration

Platform Type	Sample Type	Amount (Qubit®)	Purity
Illumina NovaSeq X Plus	Genomic DNA	≥ 100 ng	A260/280=1.8-2.0; no degradation, no contamination
	Genomic DNA (PCR free)	≥ 1 μg	A260/280=1.8-2.0; no degradation, no contamination
	Genomic DNA from FFPE tissue	≥ 300 ng	Fragments should be ≥ 1500 bp
PacBio Revio DNA HiFi library	HMW Genomic DNA	≥ 3 μg	A260/280=1.75-2.0; A260/230=1.5-2.6; *NC/QC=1.0-2.2; Fragments should be ≥ 30 kb
PacBio PCR product library	PCR product	≥ 2 μg	OD260/280=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 μg	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	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.
Nanopore PCR product library	PCR product	≥ 2 μg	OD260/280=1.75~2.0; OD260/230=1.4~2.6; *NC/QC=0.95~3.00; Single band

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 X Plus /NovaSeq6000	PacBio Revio	Nanopore PromethION
Read Length	Paired-end 150 bp	Average > 15 kb	Average > 20 kb
Sequencing Depth	Rare diseases: 30–50× Tumor tissues: 50× Adjacent normal tissues & blood: 30×	Genetic diseases: 10–20× Tumor tissues: ≥20×
Data quality	Guaranteed ≥ 85% bases with Q30 or higher	Condition based
Standard Analysis	Data quality control (QC) Alignment to the reference genome SNP/InDel/SV/CNV detection Somatic SNP/InDel/SV/CNV detection for tumor‑normal paired samples	Data quality control (QC) Sequence alignment Structural variant (SV) detection Variant annotation
Advanced Analysis	Disease Advanced Analysis IBD / Kinship analysis Variant filtering & ACMG classification Candidate CNV/SV filtering Dominant/recessive inheritance modeling Linkage analysis; ROH detection Shared‑gene / candidate‑gene screening Pathway enrichment; gene–disease association Protein interaction network HLA typing Cancer Advanced Analysis Predisposing gene screening Mutational spectrum & mutational signatures Known & novel driver gene identification SMG & pathway analysis Somatic Circos visualization TMB analysis Driver CNV (GISTIC) & non‑coding driver mutation detection Tumor purity & ploidy Intra‑tumor heterogeneity Fusion gene detection LOH analysis HLA typing (tumor/normal) Personalized / Optional Add‑Ons CRISPR/Cas9 off‑target analysis Xenograft (PDX) tumor analysis Integration site detection Somatic SNV/INDEL for single tumor Neoantigen prediction Tumor evolution (≥3 tumor samples) gVCF file generation	-

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 X Plus /NovaSeq6000	PacBio Revio	Nanopore PromethION
Read Length	Paired-end 150 bp	Average > 15 kb	Average > 20 kb
Sequencing Depth	Rare diseases: 30–50× Tumor tissues: 50× Adjacent normal tissues & blood: 30×	Genetic diseases: 10–20× Tumor tissues: ≥20×
Data quality	Guaranteed ≥ 85% bases with Q30 or higher	Condition based
Standard Analysis	Data quality control (QC) Alignment to the reference genome SNP/InDel/SV/CNV detection Somatic SNP/InDel/SV/CNV detection for tumor‑normal paired samples	Data quality control (QC) Sequence alignment Structural variant (SV) detection Variant annotation
Advanced Analysis	Disease Advanced Analysis IBD / Kinship analysis Variant filtering & ACMG classification Candidate CNV/SV filtering Dominant/recessive inheritance modeling Linkage analysis; ROH detection Shared‑gene / candidate‑gene screening Pathway enrichment; gene–disease association Protein interaction network HLA typing Cancer Advanced Analysis Predisposing gene screening Mutational spectrum & mutational signatures Known & novel driver gene identification SMG & pathway analysis Somatic Circos visualization TMB analysis Driver CNV (GISTIC) & non‑coding driver mutation detection Tumor purity & ploidy Intra‑tumor heterogeneity Fusion gene detection LOH analysis HLA typing (tumor/normal) Personalized / Optional Add‑Ons CRISPR/Cas9 off‑target analysis Xenograft (PDX) tumor analysis Integration site detection Somatic SNV/INDEL for single tumor Neoantigen prediction Tumor evolution (≥3 tumor samples) gVCF file generation	-

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 X Plus /NovaSeq6000	PacBio Revio	Nanopore PromethION
Read Length	Paired-end 150 bp	Average > 15 kb	Average > 20 kb
Sequencing Depth	Rare diseases: 30–50× Tumor tissues: 50× Adjacent normal tissues & blood: 30×	Genetic diseases: 10–20× Tumor tissues: ≥20×
Data quality	Guaranteed ≥ 85% bases with Q30 or higher	Condition based
Standard Analysis	Data quality control (QC) Alignment to the reference genome SNP/InDel/SV/CNV detection Somatic SNP/InDel/SV/CNV detection for tumor‑normal paired samples	Data quality control (QC) Sequence alignment Structural variant (SV) detection Variant annotation
Advanced Analysis	Disease Advanced Analysis IBD / Kinship analysis Variant filtering & ACMG classification Candidate CNV/SV filtering Dominant/recessive inheritance modeling Linkage analysis; ROH detection Shared‑gene / candidate‑gene screening Pathway enrichment; gene–disease association Protein interaction network HLA typing Cancer Advanced Analysis Predisposing gene screening Mutational spectrum & mutational signatures Known & novel driver gene identification SMG & pathway analysis Somatic Circos visualization TMB analysis Driver CNV (GISTIC) & non‑coding driver mutation detection Tumor purity & ploidy Intra‑tumor heterogeneity Fusion gene detection LOH analysis HLA typing (tumor/normal) Personalized / Optional Add‑Ons CRISPR/Cas9 off‑target analysis Xenograft (PDX) tumor analysis Integration site detection Somatic SNV/INDEL for single tumor Neoantigen prediction Tumor evolution (≥3 tumor samples) gVCF file generation	-

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 X Plus /NovaSeq6000	PacBio Revio	Nanopore PromethION
Read Length	Paired-end 150 bp	Average > 15 kb	Average > 20 kb
Sequencing Depth	Rare diseases: 30–50× Tumor tissues: 50× Adjacent normal tissues & blood: 30×	Genetic diseases: 10–20× Tumor tissues: ≥20×
Data quality	Guaranteed ≥ 85% bases with Q30 or higher	Condition based
Standard Analysis	Data quality control (QC) Alignment to the reference genome SNP/InDel/SV/CNV detection Somatic SNP/InDel/SV/CNV detection for tumor‑normal paired samples	Data quality control (QC) Sequence alignment Structural variant (SV) detection Variant annotation
Advanced Analysis	Disease Advanced Analysis IBD / Kinship analysis Variant filtering & ACMG classification Candidate CNV/SV filtering Dominant/recessive inheritance modeling Linkage analysis; ROH detection Shared‑gene / candidate‑gene screening Pathway enrichment; gene–disease association Protein interaction network HLA typing Cancer Advanced Analysis Predisposing gene screening Mutational spectrum & mutational signatures Known & novel driver gene identification SMG & pathway analysis Somatic Circos visualization TMB analysis Driver CNV (GISTIC) & non‑coding driver mutation detection Tumor purity & ploidy Intra‑tumor heterogeneity Fusion gene detection LOH analysis HLA typing (tumor/normal) Personalized / Optional Add‑Ons CRISPR/Cas9 off‑target analysis Xenograft (PDX) tumor analysis Integration site detection Somatic SNV/INDEL for single tumor Neoantigen prediction Tumor evolution (≥3 tumor samples) gVCF file generation	-

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.

Specifications

Sample Requirements

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

*NC/QC: NanoDrop concentration/Qubit concentration

Platform Type	Sample Type	Amount (Qubit®)	Purity
Illumina NovaSeq X Plus	Genomic DNA	≥ 100 ng	A260/280=1.8-2.0; no degradation, no contamination
	Genomic DNA (PCR free)	≥ 1 μg	A260/280=1.8-2.0; no degradation, no contamination
	Genomic DNA from FFPE tissue	≥ 300 ng	Fragments should be ≥ 1500 bp
PacBio Revio DNA HiFi library	HMW Genomic DNA	≥ 3 μg	A260/280=1.75-2.0; A260/230=1.5-2.6; *NC/QC=1.0-2.2; Fragments should be ≥ 30 kb
PacBio PCR product library	PCR product	≥ 2 μg	OD260/280=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 μg	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	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.
Nanopore PCR product library	PCR product	≥ 2 μg	OD260/280=1.75~2.0; OD260/230=1.4~2.6; *NC/QC=0.95~3.00; Single band

Sample Requirements

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

*NC/QC: NanoDrop concentration/Qubit concentration

Platform Type	Sample Type	Amount (Qubit®)	Purity
Illumina NovaSeq X Plus	Genomic DNA	≥ 100 ng	A260/280=1.8-2.0; no degradation, no contamination
	Genomic DNA (PCR free)	≥ 1 μg	A260/280=1.8-2.0; no degradation, no contamination
	Genomic DNA from FFPE tissue	≥ 300 ng	Fragments should be ≥ 1500 bp
PacBio Revio DNA HiFi library	HMW Genomic DNA	≥ 3 μg	A260/280=1.75-2.0; A260/230=1.5-2.6; *NC/QC=1.0-2.2; Fragments should be ≥ 30 kb
PacBio PCR product library	PCR product	≥ 2 μg	OD260/280=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 μg	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	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.
Nanopore PCR product library	PCR product	≥ 2 μg	OD260/280=1.75~2.0; OD260/230=1.4~2.6; *NC/QC=0.95~3.00; Single band

Sample Requirements

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

*NC/QC: NanoDrop concentration/Qubit concentration

Platform Type	Sample Type	Amount (Qubit®)	Purity
Illumina NovaSeq X Plus	Genomic DNA	≥ 100 ng	A260/280=1.8-2.0; no degradation, no contamination
	Genomic DNA (PCR free)	≥ 1 μg	A260/280=1.8-2.0; no degradation, no contamination
	Genomic DNA from FFPE tissue	≥ 300 ng	Fragments should be ≥ 1500 bp
PacBio Revio DNA HiFi library	HMW Genomic DNA	≥ 3 μg	A260/280=1.75-2.0; A260/230=1.5-2.6; *NC/QC=1.0-2.2; Fragments should be ≥ 30 kb
PacBio PCR product library	PCR product	≥ 2 μg	OD260/280=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 μg	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	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.
Nanopore PCR product library	PCR product	≥ 2 μg	OD260/280=1.75~2.0; OD260/230=1.4~2.6; *NC/QC=0.95~3.00; Single band

Sample Requirements

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

*NC/QC: NanoDrop concentration/Qubit concentration

Platform Type	Sample Type	Amount (Qubit®)	Purity
Illumina NovaSeq X Plus	Genomic DNA	≥ 100 ng	A260/280=1.8-2.0; no degradation, no contamination
	Genomic DNA (PCR free)	≥ 1 μg	A260/280=1.8-2.0; no degradation, no contamination
	Genomic DNA from FFPE tissue	≥ 300 ng	Fragments should be ≥ 1500 bp
PacBio Revio DNA HiFi library	HMW Genomic DNA	≥ 3 μg	A260/280=1.75-2.0; A260/230=1.5-2.6; *NC/QC=1.0-2.2; Fragments should be ≥ 30 kb
PacBio PCR product library	PCR product	≥ 2 μg	OD260/280=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 μg	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	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.
Nanopore PCR product library	PCR product	≥ 2 μg	OD260/280=1.75~2.0; OD260/230=1.4~2.6; *NC/QC=0.95~3.00; Single band

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 X Plus /NovaSeq6000	PacBio Revio	Nanopore PromethION
Read Length	Paired-end 150 bp	Average > 15 kb	Average > 20 kb
Sequencing Depth	Rare diseases: 30–50× Tumor tissues: 50× Adjacent normal tissues & blood: 30×	Genetic diseases: 10–20× Tumor tissues: ≥20×
Data quality	Guaranteed ≥ 85% bases with Q30 or higher	Condition based
Standard Analysis	Data quality control (QC) Alignment to the reference genome SNP/InDel/SV/CNV detection Somatic SNP/InDel/SV/CNV detection for tumor‑normal paired samples	Data quality control (QC) Sequence alignment Structural variant (SV) detection Variant annotation
Advanced Analysis	Disease Advanced Analysis IBD / Kinship analysis Variant filtering & ACMG classification Candidate CNV/SV filtering Dominant/recessive inheritance modeling Linkage analysis; ROH detection Shared‑gene / candidate‑gene screening Pathway enrichment; gene–disease association Protein interaction network HLA typing Cancer Advanced Analysis Predisposing gene screening Mutational spectrum & mutational signatures Known & novel driver gene identification SMG & pathway analysis Somatic Circos visualization TMB analysis Driver CNV (GISTIC) & non‑coding driver mutation detection Tumor purity & ploidy Intra‑tumor heterogeneity Fusion gene detection LOH analysis HLA typing (tumor/normal) Personalized / Optional Add‑Ons CRISPR/Cas9 off‑target analysis Xenograft (PDX) tumor analysis Integration site detection Somatic SNV/INDEL for single tumor Neoantigen prediction Tumor evolution (≥3 tumor samples) gVCF file generation	-

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 X Plus /NovaSeq6000	PacBio Revio	Nanopore PromethION
Read Length	Paired-end 150 bp	Average > 15 kb	Average > 20 kb
Sequencing Depth	Rare diseases: 30–50× Tumor tissues: 50× Adjacent normal tissues & blood: 30×	Genetic diseases: 10–20× Tumor tissues: ≥20×
Data quality	Guaranteed ≥ 85% bases with Q30 or higher	Condition based
Standard Analysis	Data quality control (QC) Alignment to the reference genome SNP/InDel/SV/CNV detection Somatic SNP/InDel/SV/CNV detection for tumor‑normal paired samples	Data quality control (QC) Sequence alignment Structural variant (SV) detection Variant annotation
Advanced Analysis	Disease Advanced Analysis IBD / Kinship analysis Variant filtering & ACMG classification Candidate CNV/SV filtering Dominant/recessive inheritance modeling Linkage analysis; ROH detection Shared‑gene / candidate‑gene screening Pathway enrichment; gene–disease association Protein interaction network HLA typing Cancer Advanced Analysis Predisposing gene screening Mutational spectrum & mutational signatures Known & novel driver gene identification SMG & pathway analysis Somatic Circos visualization TMB analysis Driver CNV (GISTIC) & non‑coding driver mutation detection Tumor purity & ploidy Intra‑tumor heterogeneity Fusion gene detection LOH analysis HLA typing (tumor/normal) Personalized / Optional Add‑Ons CRISPR/Cas9 off‑target analysis Xenograft (PDX) tumor analysis Integration site detection Somatic SNV/INDEL for single tumor Neoantigen prediction Tumor evolution (≥3 tumor samples) gVCF file generation	-

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 X Plus /NovaSeq6000	PacBio Revio	Nanopore PromethION
Read Length	Paired-end 150 bp	Average > 15 kb	Average > 20 kb
Sequencing Depth	Rare diseases: 30–50× Tumor tissues: 50× Adjacent normal tissues & blood: 30×	Genetic diseases: 10–20× Tumor tissues: ≥20×
Data quality	Guaranteed ≥ 85% bases with Q30 or higher	Condition based
Standard Analysis	Data quality control (QC) Alignment to the reference genome SNP/InDel/SV/CNV detection Somatic SNP/InDel/SV/CNV detection for tumor‑normal paired samples	Data quality control (QC) Sequence alignment Structural variant (SV) detection Variant annotation
Advanced Analysis	Disease Advanced Analysis IBD / Kinship analysis Variant filtering & ACMG classification Candidate CNV/SV filtering Dominant/recessive inheritance modeling Linkage analysis; ROH detection Shared‑gene / candidate‑gene screening Pathway enrichment; gene–disease association Protein interaction network HLA typing Cancer Advanced Analysis Predisposing gene screening Mutational spectrum & mutational signatures Known & novel driver gene identification SMG & pathway analysis Somatic Circos visualization TMB analysis Driver CNV (GISTIC) & non‑coding driver mutation detection Tumor purity & ploidy Intra‑tumor heterogeneity Fusion gene detection LOH analysis HLA typing (tumor/normal) Personalized / Optional Add‑Ons CRISPR/Cas9 off‑target analysis Xenograft (PDX) tumor analysis Integration site detection Somatic SNV/INDEL for single tumor Neoantigen prediction Tumor evolution (≥3 tumor samples) gVCF file generation	-

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 X Plus /NovaSeq6000	PacBio Revio	Nanopore PromethION
Read Length	Paired-end 150 bp	Average > 15 kb	Average > 20 kb
Sequencing Depth	Rare diseases: 30–50× Tumor tissues: 50× Adjacent normal tissues & blood: 30×	Genetic diseases: 10–20× Tumor tissues: ≥20×
Data quality	Guaranteed ≥ 85% bases with Q30 or higher	Condition based
Standard Analysis	Data quality control (QC) Alignment to the reference genome SNP/InDel/SV/CNV detection Somatic SNP/InDel/SV/CNV detection for tumor‑normal paired samples	Data quality control (QC) Sequence alignment Structural variant (SV) detection Variant annotation
Advanced Analysis	Disease Advanced Analysis IBD / Kinship analysis Variant filtering & ACMG classification Candidate CNV/SV filtering Dominant/recessive inheritance modeling Linkage analysis; ROH detection Shared‑gene / candidate‑gene screening Pathway enrichment; gene–disease association Protein interaction network HLA typing Cancer Advanced Analysis Predisposing gene screening Mutational spectrum & mutational signatures Known & novel driver gene identification SMG & pathway analysis Somatic Circos visualization TMB analysis Driver CNV (GISTIC) & non‑coding driver mutation detection Tumor purity & ploidy Intra‑tumor heterogeneity Fusion gene detection LOH analysis HLA typing (tumor/normal) Personalized / Optional Add‑Ons CRISPR/Cas9 off‑target analysis Xenograft (PDX) tumor analysis Integration site detection Somatic SNV/INDEL for single tumor Neoantigen prediction Tumor evolution (≥3 tumor samples) gVCF file generation	-

Project Workflow

Demo Results

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Sequencing Depth Distribution

Left panel: distribution of sequencing depth across all bases per sample (x: depth, y: fraction of bases at each depth). Right panel: cumulative depth distribution (x: cumulative depth, y: fraction of bases at depth ≥ the specified value).

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Chromosome Level Average Depth and Coverage

Bar chart shows the average sequencing depth per chromosome (left y axis).

Line plot shows coverage (fraction of bases covered) per chromosome (right y axis).

The x axis represents chromosomes.

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SNP Distribution

Left panel: Number of SNPs located in different genomic regions (pie chart).

Right panel: Classification of SNP types within coding regions (pie chart).

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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

Number of somatic SV types detected in each sample.

The x axis represents samples, and the y axis represents the count of each SV category.

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Predisposing Gene Landscape

Heatmap of mutations in susceptibility genes. X: samples; Y: genes; top bar: mutations per sample; right bar: mutations per gene. Shows top 30 genes; samples with no mutations hidden by default.

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Mutational Signatures

P1: signature profiles—mutation types (x) vs. contributions (y). P2: signature proportions per sample. P3: cosine-similarity clustering vs. 30 COSMIC signatures (darker = closer match).

Demo Results

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Sequencing Depth Distribution

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Chromosome Level Average Depth and Coverage

Bar chart shows the average sequencing depth per chromosome (left y axis).

Line plot shows coverage (fraction of bases covered) per chromosome (right y axis).

The x axis represents chromosomes.

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SNP Distribution

Left panel: Number of SNPs located in different genomic regions (pie chart).

Right panel: Classification of SNP types within coding regions (pie chart).

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Circos Plot

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

1/1

Somatic Structural Variant Counts

Number of somatic SV types detected in each sample.

The x axis represents samples, and the y axis represents the count of each SV category.

1/1

Predisposing Gene Landscape

Heatmap of mutations in susceptibility genes. X: samples; Y: genes; top bar: mutations per sample; right bar: mutations per gene. Shows top 30 genes; samples with no mutations hidden by default.

1/1

Mutational Signatures

P1: signature profiles—mutation types (x) vs. contributions (y). P2: signature proportions per sample. P3: cosine-similarity clustering vs. 30 COSMIC signatures (darker = closer match).

Frequently Asked Questions

What sample types are accepted?

•Illumina: Genomic DNA ≥100 ng (A260/280 1.8–2.0); PCR free ≥1 µg; FFPE ≥300 ng with fragments ≥1,500 bp.

•PacBio: ≥3 µg high molecular weight DNA, fragments ≥30 kb.

•Nanopore: ≥8 µg HMW DNA or ≥30 µg ultra HMW DNA, fragments ≥30–300 kb.

What sequencing depth should I choose?

Do you offer short read and long read WGS?

What files do I receive?

How are difficult genomic regions handled?

What is the turnaround time?

How is data delivered securely?

More Services

Shotgun Metagenomics Sequencing

Plant and Animal Whole Genome Sequencing

Microbial Whole Genome Sequencing

Whole Exome Sequencing

Whole Genome Bisulfite Sequencing (WGBS)

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.

Platform Type

Sample Type

Amount (Qubit®)

Purity

Illumina NovaSeq X Plus

Genomic DNA

≥ 100 ng

A260/280=1.8-2.0;
no degradation,
no contamination

Genomic DNA
(PCR free)

≥ 1 μg

Genomic DNA
from FFPE tissue

≥ 300 ng

Fragments should be ≥ 1500 bp

PacBio Revio DNA HiFi library

HMW Genomic DNA

≥ 3 μg

A260/280=1.75-2.0;
A260/230=1.5-2.6;
*NC/QC=1.0-2.2;
Fragments should be ≥ 30 kb

PacBio PCR product library

PCR product

≥ 2 μg

OD260/280=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 μg

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

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.

Nanopore PCR product library

PCR product

≥ 2 μg

OD260/280=1.75~2.0;
OD260/230=1.4~2.6;
*NC/QC=0.95~3.00;
Single band

Platform Type

Sample Type

Amount (Qubit®)

Purity

Illumina NovaSeq X Plus

Genomic DNA

≥ 100 ng

A260/280=1.8-2.0;
no degradation,
no contamination

Genomic DNA
(PCR free)

≥ 1 μg

Genomic DNA
from FFPE tissue

≥ 300 ng

Fragments should be ≥ 1500 bp

PacBio Revio DNA HiFi library

HMW Genomic DNA

≥ 3 μg

A260/280=1.75-2.0;
A260/230=1.5-2.6;
*NC/QC=1.0-2.2;
Fragments should be ≥ 30 kb

PacBio PCR product library

PCR product

≥ 2 μg

OD260/280=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 μg

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

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.

Nanopore PCR product library

PCR product

≥ 2 μg

OD260/280=1.75~2.0;
OD260/230=1.4~2.6;
*NC/QC=0.95~3.00;
Single band

Platform Type

Illumina NovaSeq X Plus /NovaSeq6000

PacBio Revio

Nanopore PromethION

Read Length

Paired-end 150 bp

Average > 15 kb

Average > 20 kb

Sequencing Depth

Rare diseases: 30–50×
Tumor tissues: 50×
Adjacent normal tissues & blood: 30×

Genetic diseases: 10–20×
Tumor tissues: ≥20×

Data quality

Guaranteed ≥ 85% bases with Q30 or higher

Condition based

Standard Analysis

Data quality control (QC)
Alignment to the reference genome
SNP/InDel/SV/CNV detection
Somatic SNP/InDel/SV/CNV detection for tumor‑normal paired samples

Data quality control (QC)
Sequence alignment
Structural variant (SV) detection
Variant annotation

Advanced Analysis

Disease Advanced Analysis

IBD / Kinship analysis
Variant filtering & ACMG classification
Candidate CNV/SV filtering
Dominant/recessive inheritance modeling
Linkage analysis; ROH detection
Shared‑gene / candidate‑gene screening
Pathway enrichment; gene–disease association
Protein interaction network
HLA typing

Cancer Advanced Analysis

Predisposing gene screening
Mutational spectrum & mutational signatures
Known & novel driver gene identification
SMG & pathway analysis
Somatic Circos visualization
TMB analysis
Driver CNV (GISTIC) & non‑coding driver mutation detection
Tumor purity & ploidy
Intra‑tumor heterogeneity
Fusion gene detection
LOH analysis
HLA typing (tumor/normal)

Personalized / Optional Add‑Ons

CRISPR/Cas9 off‑target analysis
Xenograft (PDX) tumor analysis
Integration site detection
Somatic SNV/INDEL for single tumor
Neoantigen prediction
Tumor evolution (≥3 tumor samples)
gVCF file generation

Platform Type

Illumina NovaSeq X Plus /NovaSeq6000

PacBio Revio

Nanopore PromethION

Read Length

Paired-end 150 bp

Average > 15 kb

Average > 20 kb

Sequencing Depth

Rare diseases: 30–50×
Tumor tissues: 50×
Adjacent normal tissues & blood: 30×

Genetic diseases: 10–20×
Tumor tissues: ≥20×

Data quality

Guaranteed ≥ 85% bases with Q30 or higher

Condition based

Standard Analysis

Data quality control (QC)
Alignment to the reference genome
SNP/InDel/SV/CNV detection
Somatic SNP/InDel/SV/CNV detection for tumor‑normal paired samples

Data quality control (QC)
Sequence alignment
Structural variant (SV) detection
Variant annotation

Advanced Analysis

Platform Type

Sample Type

Amount (Qubit®)

Purity

Illumina NovaSeq X Plus

Genomic DNA

≥ 100 ng

A260/280=1.8-2.0;
no degradation,
no contamination

Genomic DNA
(PCR free)

≥ 1 μg

Genomic DNA
from FFPE tissue

≥ 300 ng

Fragments should be ≥ 1500 bp

PacBio Revio DNA HiFi library

HMW Genomic DNA

≥ 3 μg

A260/280=1.75-2.0;
A260/230=1.5-2.6;
*NC/QC=1.0-2.2;
Fragments should be ≥ 30 kb

PacBio PCR product library

PCR product

≥ 2 μg

OD260/280=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 μg

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

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.

Nanopore PCR product library

PCR product

≥ 2 μg

OD260/280=1.75~2.0;
OD260/230=1.4~2.6;
*NC/QC=0.95~3.00;
Single band

Platform Type

Sample Type

Amount (Qubit®)

Purity

Illumina NovaSeq X Plus

Genomic DNA

≥ 100 ng

A260/280=1.8-2.0;
no degradation,
no contamination

Genomic DNA
(PCR free)

≥ 1 μg

Genomic DNA
from FFPE tissue

≥ 300 ng

Fragments should be ≥ 1500 bp

PacBio Revio DNA HiFi library

HMW Genomic DNA

≥ 3 μg

A260/280=1.75-2.0;
A260/230=1.5-2.6;
*NC/QC=1.0-2.2;
Fragments should be ≥ 30 kb

PacBio PCR product library

PCR product

≥ 2 μg

OD260/280=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 μg

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

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.

Nanopore PCR product library

PCR product

≥ 2 μg

OD260/280=1.75~2.0;
OD260/230=1.4~2.6;
*NC/QC=0.95~3.00;
Single band

Platform Type

Illumina NovaSeq X Plus /NovaSeq6000

PacBio Revio

Nanopore PromethION

Read Length

Paired-end 150 bp

Average > 15 kb

Average > 20 kb

Sequencing Depth

Rare diseases: 30–50×
Tumor tissues: 50×
Adjacent normal tissues & blood: 30×

Genetic diseases: 10–20×
Tumor tissues: ≥20×

Data quality

Guaranteed ≥ 85% bases with Q30 or higher

Condition based

Standard Analysis

Data quality control (QC)
Alignment to the reference genome
SNP/InDel/SV/CNV detection
Somatic SNP/InDel/SV/CNV detection for tumor‑normal paired samples

Data quality control (QC)
Sequence alignment
Structural variant (SV) detection
Variant annotation

Advanced Analysis

Platform Type

Illumina NovaSeq X Plus /NovaSeq6000

PacBio Revio

Nanopore PromethION

Read Length

Paired-end 150 bp

Average > 15 kb

Average > 20 kb

Sequencing Depth

Rare diseases: 30–50×
Tumor tissues: 50×
Adjacent normal tissues & blood: 30×

Genetic diseases: 10–20×
Tumor tissues: ≥20×

Data quality

Guaranteed ≥ 85% bases with Q30 or higher

Condition based

Standard Analysis

Data quality control (QC)
Alignment to the reference genome
SNP/InDel/SV/CNV detection
Somatic SNP/InDel/SV/CNV detection for tumor‑normal paired samples

Data quality control (QC)
Sequence alignment
Structural variant (SV) detection
Variant annotation

Advanced Analysis