Products

Human Whole Genome Sequencing

Human Whole Genome Sequencing (hWGS) is a comprehensive, high-powered approach for sequencing an individual’s entire genome, with the ability to identify mutations in both coding genes and non-coding regions. Its applications span disease research, oncology, population evolution studies, and more, making it a cornerstone of human genomic research.

BMKGENE offers human whole genome sequencing services leveraging multiple state-of-the-art sequencing platforms, paired with tailored analytical solutions designed for tumor and genetic disease research.

Service Details

Bioinformatics

Demo Results

Service Features

Genome-wide variant detection with comprehensive coverage of coding and non-coding regions.
Sequencing with multiple advanced platforms—Illumina, MGI, and long-read technologies (PacBio and Nanopore)—offering flexible options for diverse needs.
Detects and annotates variant sites across individuals, delivering insights into genetic differences.
Specialized bioinformatics pipeline for tumor and genetic disease research.

Service Advantages

Extensive Project Experience: Extensive experience supporting projects across diverse research fields.
Rigorous Quality Control: Stringent quality control throughout sample processing, library preparation, sequencing, and data analysis ensures reliable, high-quality results.
Experienced Bioinformatics Team and Standardized Workflow: Expert analysts and optimized, standardized workflows enable accurate and efficient data interpretation.
Customized Bioinformatics Analysis: Flexible, tailored analytical solutions address specific research objectives and deliver in-depth insights aligned with project-specific needs.
Three-Month Post-Delivery Support: Three months of support following result delivery, including assistance with result interpretation, follow-up consultations, and troubleshooting.

Sample Specifications

Type	Concentration and Purity					Agarose Gel
Type	Conc. (ng/μl)	Amount	OD 260/280	OD 260/230	Nanodrop/Quibit	Agarose Gel
WGS-FF* NGS	≥ 1.0	≥ 30 ng	-	-	-	No or limited Contamination. No or with degradation (the main band is clear). FFPE DNA: If the main band is unclear, a distinct smear above 2kb is required.
WGS-FFPE* NGS	≥ 5.0	≥ 50 ng	-	-	-
WGS NGS PCR-FREE	≥ 40	≥ 500 ng	-	-	-
WGS ONT	≥ 40	≥ 2.0 μg	1.7-2.2	1.5-3.0	0.8-2.5
WGS PB	≥ 50	≥ 8.0 μg	1.7-2.2	0.8-2.5	0.8-2.5

Notes:
FF: Fresh-frozen samples.
FFPE: Formalin-fixed, paraffin-embedded samples.

Sample Requirements

Tissue or Extracted DNA	Illumina/MGI	Nanopore	PacBio
Muscle	0.5–1 g	≥ 3.5 g	≥ 3.5 g
Blood	1.5 mL	≥ 0.5 mL	≥ 5 mL
Cultured Cells	≥ 1 × 10⁶	≥ 1 × 10⁷	≥ 1 × 10⁸
FFPE Sample
Extracted DNA	Regular Library Preparation Concentration: ≥ 1 ng/μL Amount: ≥ 30 ng Limited or no degradation or contamination	Concentration: ≥ 40 ng/μL Amount: ≥ 4 μg/flow cell/sample OD 260/280: 1.7–2.2 OD 260/230: ≥ 1.5 Limited or no degradation or contamination	Concentration: ≥ 50 ng/μL Amount: ≥ 10 μg/flow cell/sample OD 260/280: 1.7–2.2 OD 260/230: 1.8–2.5 Limited or no degradation or contamination
	PCR-free Library Preparation Concentration: ≥ 40 ng/μL Amount: ≥ 500 ng Limited or no degradation or contamination
	DNA Extracted from FFPE Samples Concentration: ≥ 5 ng/μL Fragments longer than 2 kb	-	-

Service Work Flow

Sample delivery

DNA extraction

Library construction

Sequencing

Data analysis

Data delivery

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Standard Bioinformatics Pipeline

Advanced Analysis Pipeline

Beyond standard variant detection and annotation, BMKGENE offers advanced bioinformatics analyses for hereditary disease and tumor research. Analysis modules can be selected and customized according to the study design, sample type, and research objectives.

Hereditary Disease Analysis

Pathogenic variant screening
Phenotype-informed variant prioritization and interpretation, incorporating clinical phenotypes, family history, and inheritance patterns

Paired Tumor–Normal Analysis

Germline Cancer Susceptibility Analysis

Identification and interpretation of germline variants in cancer susceptibility genes

Mutational Signature Analysis

Mutational spectrum profiling
Non-negative matrix factorization (NMF)-based mutational signature extraction and analysis

Driver Gene Analysis

Candidate driver gene prediction
Known driver gene annotation
Pathway enrichment analysis of frequently mutated genes

Additional Tumor Analysis

Tumor Heterogeneity Analysis

Tumor purity and ploidy estimation
Clonal architecture analysis
Tumor phylogenetic tree reconstruction

Optional Analysis Modules

Tumor mutational burden (TMB) analysis
Microsatellite instability (MSI) analysis

Customized Bioinformatics Analysis

Customized analytical workflows, software tools, parameter settings, and project-specific analyses are available according to individual research requirements.

Representative Analysis Results

The following figures illustrate representative outputs from BMKGENE’s hWGS bioinformatics workflows. Available analyses and deliverables may vary depending on the study design, sample type, sequencing strategy, and selected analysis modules.

Genome-wide Genomic Alteration Profiling

Integrated Genome-wide Variant Landscape

The Circos plot provides an integrated chromosome-level overview of genomic alterations, enabling rapid assessment of genome-wide variation patterns.

Copy-Number Alteration and Loss of Heterozygosity Profile

Normalized copy-number and B-allele frequency (BAF) profiles across chromosomes reveal copy-number gains and losses and help identify regions of loss of heterozygosity.

Somatic Mutation Landscape

The oncoplot summarizes recurrently altered genes, mutation classes, and their distribution across tumor samples, supporting the identification of candidate driver genes.

Cancer-Related Variant Interpretation

Cancer Susceptibility Gene Annotation

Representative candidate variants in cancer-related genes are summarized with their genomic positions, variant classes, amino acid changes, associated cancer types, and reported roles in cancer.

Mutational Signature Analysis

NMF-Derived Mutational Signatures

Non-negative matrix factorization (NMF) decomposes somatic substitutions into characteristic trinucleotide profiles, helping identify the mutational processes that may have contributed to tumor development.

Mutational Signature Contributions Across Samples

The stacked bar chart shows the contribution of each extracted mutational signature to individual tumor samples, highlighting differences in the underlying mutational processes across samples.

Tumor Heterogeneity and Clonal Architecture

Tumor Purity and Ploidy Estimation

The likelihood contour plot displays the estimated tumor cellularity and ploidy, together with confidence regions and alternative solutions.

Tumor Subpopulation and Clonal Architecture

Adjusted variant allele frequencies and copy-number states are integrated to visualize inferred tumor subpopulations, supporting the assessment of intratumor heterogeneity and clonal architecture.

Human Whole Genome Sequencing