What is Human Whole Exome Sequencing？
Whole exome sequencing (WES) employs next-generation sequencing technology (NGS), which provides a cost-efficient alternative to whole genome sequencing (WGS). The human whole exome, composed by about 180,000 exons (protein-coding region of the genome) accounts for only 1-2% of the human genome, but up to 85% of the disease-related mutations associated with Mendelian disorders occur in these regions . By targeting these regions, human whole exome sequencing (hWES) provides an in-depth sequencing and analysis approach to indicate genome variants, germline mutations, somatic mutations, and pathogenic mechanisms. hWES service supports a broad range of studies for researchers, including genetic disease-related variants, complex diseases, cancer research, or human population genetics.
Novogene’s hWES service offers a convenient solution with plenty of profits, such as high-quality data, publication-ready results that help you achieve your research goals. Novogene also equips with clinical-grade sequencing laboratories that are validated and comply with CLIA/CAP/ISO17025 standards, providing precise diagnosis with our clinical whole exome sequencing service.
Applications of Human Whole Exome Sequencing
Human whole exome sequencing has been successfully helping researchers to obtain answers to many different and cutting-edge research and clinical questions:
- Genome variant studies through exon detection
- Pathogenic mechanism and molecular characterization of samples in research and clinical contexts
- Cancer biopsy as a tool
Benefits of Novogene Human Whole Exome Sequencing
- hWES focuses on the exome regions can help achieve higher sequencing depth with significantly fewer data of good quality, compared with WGS.
- hWES increases the sensitivity of the analysis which makes the detection of rare mutations easy.
- Novogene’s extraordinary professional bioinformatics pipeline and internationally recognized, best-in-class software ensure that our customers always receive reliable and publication-ready data.
hWES Specifications: DNA Sample Requirements
|Platform Type||Sample Type||Amount (Qubit®)||Purity|
|Illumina NovaSeq 6000||Genomic DNA||≥ 400 ng||OD260/280 = 1.8-2.0;
no degradation, no contamination
|cfDNA/ctDNA||≥ 50 ng||Fragments should be in multiples of 170 bp, with no genomic contamination|
|Genomic DNA from FFPE||≥ 800 ng||Fragments should be ≥ 1000 bp|
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.
hWES Specifications: Sequencing and Analysis
|Sequencing Platform||Illumina NovaSeq 6000|
|Read Length||Paired-end 150 bp|
|For Mendelian disorder/rare disease: effective sequencing depth above 50× (6G)|
|For tumor sample: effective sequencing depth above 100× (12G)|
Note: Sequencing depths and analysis contents displayed are for your reference only. Download the Service Specifications to learn more. For detailed information, please contact us with your customized requests.
Project Workflow of Novogene hWES 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 Exome Sequencing
Human whole exome sequencing (hWES) enables researchers to cost-effectively unveil protein-coding variants in rare Mendelian disorders, complex disease, cancer, or human population studies. Here we summarized some outstanding academic publications that have used Novogene hWES services.
JAMA CardiologyIssue Date: April 1, 2020IF: 12.794DOI: 10.1001/jamacardio.2020.0479
Annals of the Rheumatic DiseasesIssue Date: 2020IF: 16.102DOI: 10.1136/annrheumdis-2019-215533
Journal of HepatologyIssue Date: July 23, 2019IF: 20.582DOI: 10.1016/j.jhep.2019.07.014
European Respiratory JournalIssue Date: 2019IF: 12.339DOI: 10.1183/13993003.01609-2018
Cancer ResearchIssue Date: 2019IF: 9.727DOI: 10.1158/0008-5472.CAN-18-1086
CellIssue Date: October 18, 2018IF: 38.637DOI: 10.1016/j.cell.2018.09.038
Nature CommunicationsIssue Date: 01 March 2018IF: 12.121DOI: 10.1038/s41467-018-03276-y
Error Rate Distribution
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).
Heatmap of significantly mutated genes