What is 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.
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 6000 platforms, Oxford Nanopore PromethION and PacBio Sequel platforms.
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 .
Applications of Human Whole Genome Sequencing
Human genome sequencing has been assisting researchers in the following research areas:
- Genetic diseases
- Pathogenesis mechanisms
- Human population origins
Benefits of Novogene Human Whole Genome Sequencing
- High-quality data to cover whole human genomes for documentation of SNPs, InDels, SVs, and CNVs.
- Efficient discovery of repeated sequences through third-generation sequencing long-reads technology.
- Cost-effective strategy, low-pass sequencing, and imputation services for genome-wide association studies (GWAS) that are available for large cohorts or in complex disease research.
- Professional bioinformatics pipeline and internationally recognized, best-in-class softwares to provide customers with reliable and publication-ready data.
hWGS Specifications: DNA Sample Requirements
|Platform Type||Sample Type||Amount (Qubit®)||Purity|
|Genomic DNA||≥ 200 ng||
|≥ 1 μg|
|≥ 800 ng||Fragments should be ≥ 1500 bp|
|PacBio Sequel II DNA CLR library||HMW Genomic DNA||≥ 8 μg||A260/280=1.8~2.0;
Fragments should be ≥ 40k
|PacBio sequel II DNA HiFi library||HMW Genomic DNA||≥15 μg||A260/280=1.8~2.0;
Fragments should be ≥ 30k
|HMW Genomic DNA||≥ 8 μg||OD260/280=1.8-2.0;
Fragments should be ≥ 30 Kb
Note: Values of sample amount are only listed for your reference. Download the Service Specifications and Sample Requirements to learn more. For detailed information, please contact us with your customized requests.
hWGS Specifications: Sequencing and Analysis
|Platform Type||Illumina NovaSeq 6000||PacBio Sequel I/II||Nanopore PromethION|
|Read Length||Paired-end 150 bp||> 15 Kb for Sequel II
|> 17 Kb (Average)|
|For rare diseases:
|For genetic diseases:
|For genetic diseases:
|For tumor tissues: 50×;
For adjacent normal tissues and blood: 30×
|For tumor tissues:
|For tumor tissues:
Project Workflow of Novogene hWGS Services
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.
Publications of Human Whole Genome Sequencing
Human whole-genome sequencing (WGS) allows researchers to identify inherited disorders, characterize mutations that drive cancer progression, track disease outbreaks, and achieve many other research goals. Here we have summarized some outstanding academic publications that have been using novogene hWGS services.
Journal: JAMA CardiologyIssue Date: April 1, 2020IF: 12.794DOI: 10.1001/jamacardio.2020.0479
Journal: NatureIssue date: March 25, 2020IF: 12.794DOI: 10.1038/s41586-020-2135-x
Journal: Journal of HepatologyIssue date: DECEMBER 01, 2019IF:20.582DOI: 10.1016/j.jhep.2019.07.014
Journal: European Respiratory JournalIssue date: November 29,2019IF: 12.339DOI: 10.1183/13993003.01609-2018
Journal: NatureIssue date: February 27,2019IF: 42.778DOI: 10.1038/s41586-019-0987-8
Journal: CellIssue date: October 18, 2018IF: 38.637DOI: 10.1016/j.cell.2018.09.038
Journal: Proceedings of the National Academy of SciencesIssue date: February 5, 2018; IF: 9.412DOI: 10.1073/pnas.1715554115
Error Rate Distribution of hWGS Sequencing Results
Note: The x-axis represents position in reads, and the y-axis represents the average error rate of bases of all reads at a position.
GC Content Distribution
Note: The x-axis is position in reads, and the y-axis is percentage of each type of bases (A, T, G, C); different bases are distinguishable by different colors.
Sequencing Depth & Coverage Distribution
Note: Average sequencing depth (bar plot) and coverage (dot-line plot) in each chromosome. The x-axis represents chromosome; the left y-axis is the average depth; the right y-axis is the coverage (proportion of covered bases).
Note: Novogene shows Circos only when CNV analysis was carried out. The figure consists seven rings from outer to inner.
(1) The outer circle (the first circle) is chrome information.
(2) The second ring represents the read coverage in histogram style. A histogram is the average coverage of a 0.5Mbp region.
(3) The third ring represents indel density in scatter style. A black dot is calculated as indel number in a range of 1Mbp.
(4) The fourth ring represents snp density in scatter style. A green dot is calculated as snp number in a range of 1Mbp.
(5) The fifth ring represents the proportion of homozygous SNP (orange) and heterozygous SNP (grey) in histogram style. A histogram is calculated from a 1Mbp region.
(6) The sixth ring represents the CNV inference. Red means gain, and green means loss.
(7) The most central ring represents the SV inference in exonic and splicing regions. TRA (orange), INS (green), DEL (grey), DUP (pink) and INV (blue).
Heatmap of Significantly Mutated Genes
Note: The upper x-axis is chromosome number; the lower x-axis is centimorgan (cM). And the y-axis is LOD score.