Human Whole Exome Sequencing

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 ^[1]. 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
Sequencing Depth	For Mendelian disorder/rare disease: effective sequencing depth above 50× (6G)
	For tumor sample: effective sequencing depth above 100× (12G)
Data Analysis	Data quality control Alignment to a reference genome SNP and InDel calling Somatic SNP/InDel/CNV mutation detection (tumor-normal paired samples)

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.

^[1]https://www.nature.com/articles/jhg2013114

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.

Association of Rare PTGIS Variants With Susceptibility and Pulmonary Vascular Response in Patients With Idiopathic Pulmonary Arterial Hypertension

JAMA CardiologyIssue Date: April 1, 2020IF: 12.794DOI: 10.1001/jamacardio.2020.0479
- Reference information
  
  Wang, X. J., Xu, X. Q., Sun, K., Liu, K. Q., Li, S. Q., Jiang, X., … & Wu, Y. (2020). Association of Rare PTGIS Variants With Susceptibility and Pulmonary Vascular Response in Patients With Idiopathic Pulmonary Arterial Hypertension. JAMA cardiology, 5(6), 677-684.
Germline genetic patterns underlying familial rheumatoid arthritis, systemic lupus erythematosus and primary Sjögren’s syndrome highlight T cell-initiated autoimmunity

Annals of the Rheumatic DiseasesIssue Date: 2020IF: 16.102DOI: 10.1136/annrheumdis-2019-215533
- Reference information
  
  Wang, Y., Chen, S., Chen, J., Xie, X., Gao, S., Zhang, C., … & Lin, J. (2020). Germline genetic patterns underlying familial rheumatoid arthritis, systemic lupus erythematosus and primary Sjögren’s syndrome highlight T cell-initiated autoimmunity. Annals of the Rheumatic Diseases, 79(2), 268-275.
Integrated multiomic analysis reveals comprehensive tumour heterogeneity and novel immunophenotypic classification in hepatocellular carcinomas

GutIssue Date: 2019IF: 19.819DOI: 10.1136/gutjnl-2019-318912
- Reference information
  
  Zhang, Q., Lou, Y., Yang, J., Wang, J., Feng, J., Zhao, Y., … & Zhang, X. (2019). Integrated multiomic analysis reveals comprehensive tumour heterogeneity and novel immunophenotypic classification in hepatocellular carcinomas. Gut, 68(11), 2019-2031.
Genomic sequencing identifies WNK2 as a driver in hepatocellular carcinoma and a risk factor for early recurrence

Journal of HepatologyIssue Date: July 23, 2019IF: 20.582DOI: 10.1016/j.jhep.2019.07.014
- Reference information
  
  Zhou, S. L., Zhou, Z. J., Hu, Z. Q., Song, C. L., Luo, Y. J., Luo, C. B., … & Huang, X. W. (2019). Genomic sequencing identifies WNK2 as a driver in hepatocellular carcinoma and a risk factor for early recurrence. Journal of hepatology, 71(6), 1152-1163.
Germline BMP9 mutation causes idiopathic pulmonary arterial hypertension

European Respiratory JournalIssue Date: 2019IF: 12.339DOI: 10.1183/13993003.01609-2018
- Reference information
  
  Wang, X. J., Lian, T. Y., Jiang, X., Liu, S. F., Li, S. Q., Jiang, R., … & Xu, X. Q. (2019). Germline BMP9 mutation causes idiopathic pulmonary arterial hypertension. European Respiratory Journal, 53(3).
Multiregion Sequencing Reveals the Genetic Heterogeneity and Evolutionary History of Osteosarcoma and Matched

Cancer ResearchIssue Date: 2019IF: 9.727DOI: 10.1158/0008-5472.CAN-18-1086
- Reference information
  
  Wang, D., Niu, X., Wang, Z., Song, C. L., Huang, Z., Chen, K. N., … & Wang, Y. (2019). Multiregion sequencing reveals the genetic heterogeneity and evolutionary history of osteosarcoma and matched pulmonary metastases. Cancer research, 79(1), 7-20.
Mutational landscape of secondary glioblastoma guides MET-targeted trial in brain tumor

CellIssue Date: October 18, 2018IF: 38.637DOI: 10.1016/j.cell.2018.09.038
- Reference information
  
  Hu, H., Mu, Q., Bao, Z., Chen, Y., Liu, Y., Chen, J., … & Sa, J. K. (2018). Mutational landscape of secondary glioblastoma guides MET-targeted trial in brain tumor. Cell, 175(6), 1665-1678.
Whole-exome sequencing reveals the origin and evolution of hepato-cholangiocarcinoma

Nature CommunicationsIssue Date: 01 March 2018IF: 12.121DOI: 10.1038/s41467-018-03276-y
- Reference information
  
  Wang, A., Wu, L., Lin, J., Han, L., Bian, J., Wu, Y., … & Wang, W. (2018). Whole-exome sequencing reveals the origin and evolution of hepato-cholangiocarcinoma. Nature communications, 9(1), 1-10.

Error Rate Distribution

Novogene hWES 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

Novogene hWGS 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

Novogene hWES 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).

SNP Detection

Novogene hWES SNP Detection

Sample	Sample_1	Sample_2	Sample_3	Sample_4	Sample_5
CDS	22948	22726	22681	22679	22496
Synonymous SNP	11491	11441	11416	11408	11532
missense SNP	10697	10657	10628	10639	10359
stopgain	91	87	87	87	79
stoploss	12	12	12	13	15
unknown	564	535	544	536	520
intronic	130230	128685	129046	132820	182248
UTR3	6431	6217	6301	6413	7612
UTR5	3177	3150	3163	3234	3730
splicing	81	81	81	81	76
ncRNA exonic	3328	3289	3312	3343	4037
ncRNA intronic	11066	10967	10946	11426	17658
ncRNA splicing	8	10	13	13	13
upstream	4488	4204	4270	4458	6344
downstream	2392	2352	2436	2406	3501
intergenic	66631	64399	64589	68470	137307
Total	250922	246335	247081	255588	385335

Genome Sequencing

Transcriptome Sequencing

Epigenomics

Metagenomics

Pre-made Library Sequencing

Human Whole Exome Sequencing

What is Human Whole Exome Sequencing？

Applications of Human Whole Exome Sequencing

Benefits of Novogene Human Whole Exome Sequencing

hWES Specifications: DNA Sample Requirements

hWES Specifications: Sequencing and Analysis

Project Workflow of Novogene hWES Services

Publications of Human Whole Exome Sequencing

Error Rate Distribution

GC Content Distribution

Sequencing Depth & Coverage Distribution

SNP Detection

Heatmap of significantly mutated genes

More Research Services

Mouse Whole Exome Sequencing

Target Region Sequencing

Clinical Whole Exome Sequencing (CLIA/CAP)

Genome Sequencing

Transcriptome Sequencing

Epigenomics

Metagenomics

Pre-made Library Sequencing

Clinical Whole Exome Sequencing

Clinical Panels

Human Whole Exome Sequencing

What is Human Whole Exome Sequencing？

Applications of Human Whole Exome Sequencing

Benefits of Novogene Human Whole Exome Sequencing

hWES Specifications: DNA Sample Requirements

hWES Specifications: Sequencing and Analysis

Project Workflow of Novogene hWES Services

Publications of Human Whole Exome Sequencing

Error Rate Distribution

GC Content Distribution

Sequencing Depth & Coverage Distribution

SNP Detection

Heatmap of significantly mutated genes

More Research Services

Mouse Whole Exome Sequencing

Target Region Sequencing

Clinical Whole Exome Sequencing (CLIA/CAP)