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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.


    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.

    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

    Heatmap of significantly mutated genes

    Novogene hWES Heatmap of Significantly Mutated Genes