Human Whole Genome Sequencing

Human whole genome sequencing (hWGS) enables researchers to describe the full genetic composition of individuals and characterize entire human genomes. It allows the identification of genomic variation information, including single-nucleotide polymorphisms (SNPs)insertions and deletions (InDels)structural variations (SVs), and copy number variations (CNVs) in a single and cost-efficient assay.

 

Category:

With extensive experience and well-developed bioinformatics know-how, Novogene delivers high-quality data, publication-ready analysis figures, and personalized results to meet different research objectives and customer needs. Novogene offers ultra-fast turnaround time, even for large projects: equipped with numerous Illumina NovaSeq X Plus /NovaSeq6000 platformsOxford Nanopore PromethION and PacBio Revio/Sequel II system.

Novogene is capable of sequencing up to 200,000 human genomes per year at a competitive cost. Novogene hWGS service can provide data across a broad range of applications, including studies on genetic diseases, cancers, pathogenesis mechanisms, or population genetics. Multiple DNA sequencing technologies available at Novogene can identify the highly polymorphic and highly repetitive regions within the genome of interest, thereby providing a complete and accurate human genome characterization [1].

Applications

Human genome sequencing has been assisting researchers in the following research areas:

    • Genetic diseases
    • Cancers
    • Pathogenesis mechanisms
    • Human population origins

Advantages

Short-read sequencing

      • Efficient discovery and documentation of genomic variants such as SNPs, InDels, SVs and CNVs.
      • Cost-effective strategy, low-pass sequencing, and imputation services for genome-wide association studies (GWAS) for larger cohorts or complex disease research.

Long-read sequencing

      • Efficient discovery of repeated sequences and large structural variants.
      • Direct detection of methylation information (5mC in CpG sites).

Specifications: DNA Sample Requirements

Platform Type Sample Type Amount (Qubit®) Purity
Illumina
NovaSeq X Plus /NovaSeq6000
Genomic DNA ≥ 200 ng
A260/280=1.8-2.0;
no degradation,
no contamination
Genomic DNA
(PCR free)
≥ 1.2 μg
Genomic DNA
from FFPE tissue
≥ 400 ng Fragments longer than 1,000 bp
PacBio Revio/ Sequel II system HiFi library HMW Genomic DNA ≥5 μg A260/280=1.75-2.0;
A260/230=1.4-2.6;
*NC/QC=0.95-3.00Fragments should be ≥ 30 kb
Nanopore
PromethION
HMW Genomic DNA ≥ 8.5 μg A260/280=1.75-2.0;
A260/230=1.4-2.6;Fragments should be ≥ 30 kb

*NC/QC: NanoDrop concentration/Qubit concentration

Specifications: Sequencing and Analysis

Platform Type Illumina NovaSeq X Plus /NovaSeq6000 PacBio Revio/ Sequel II system Nanopore PromethION
Read Length Paired-end 150 bp > 15 kb
(Average)
> 17 kb (Average)
Sequencing Depth
For rare diseases:
30-50×
For genetic diseases:
10-20×
For genetic diseases:
10-20×
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. For more information, please contact us.

Project Workflow

From sample preparation, library preparation, DNA sequencing and data quality control, to bioinformatics analysis, Novogene provides high-quality products and professional services. Each step is performed in agreement with a high scientific standard and meticulous design to ensure high-quality research results.
Human Whole Genome Sequencing

[1] https://www.genome.gov/about-genomics/fact-sheets/Sequencing-Human-Genome-cost

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