Exome Sequencing


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Exome Sequencing

    The “exome” consists of all the exons in the genome, which are the protein coding regions of genes. Combining exome enrichment technology and next generation sequencing technology, exome sequencing is able to effectively obtain the sequences and identify variants in all the known exon regions of a given genome.

    Sample Requirement

    Genomic DNA

    Service Workflow

    1. Project consultation and experimental design.
    2. Quality control and standardization of DNA samples.
    3. Fragmentation of genomic DNA
    4. End-repair, Adapter ligation, PCR amplification
    5. Hybridization of probes to targeted regions, Enrichment using magnetic beads
    6. PCR amplification
    7. Sequencing on Illumina platform
    8. Bioinformatics analysis and annotation.
    9. Genesky’s NGS data verification kit is used to genotype 96 high-frequency SNPs to examine exam sequencing data quality.


    1. Experiment record

    2. Quality check report

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