Next-Gen Sequencing


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Whole Genome Sequencing
Whole genome sequencing (WGS) is the process of determining the complete DNA sequence of an organism's genome, and the most comprehensive tool for detecting single nucleotide variants, insertions, deletions, copy number changes and structural variants. Macrogen’s WGS service is available for all species.
WGS can identify and isolate genetic variations, which is why it is commonly used for research purposes. Today, WGS is being widely applied in the fields of agriculture, infectious disease, immunology, cancer research and many more, and it’s yielding new insights surrounding evolutionary biology, various inherited conditions and drug development.
Sequencing platforms
• Illumina NovaSeq 6000 / HiSeq X Ten / HiSeq 4000 / HiSeq 2500
• Illumina MiSeq
• PacBio Sequel II / Sequel / RS II
Data Analysis*
Whole Genome de novo Sequencing
De novo sequencing offers a way to uncover information about the entire genome of microorganisms or animals and plants that are not known. It assembles long parallel phases of “novel” genetic material, meaning it codes new DNA without referencing an existing amino acid sequence. This type of whole genome sequencing is highly accurate and can replicate or complete a blueprint for complex or polyploid genomes.
This primary generation of genetic material is used to spot chromosome deletions, inversions, or translocations, which may indicate the likelihood of a genetic disorder. Researchers use a variety of data analysis methods to obtain information from sequenced stretches of DNA.
Standard data analysis
• Genome Survey (K-mer Analysis)
• Consensus Sequence (Reads assembly into contigs)
Advanced data analysis
• Gene Prediction
• Gene Annotation
Whole Genome Sequencing
Resequencing a genome implies the comparison of a common genetic sequence to the newly sequenced data. This type of whole genome sequencing can scan or test for specific genetic variations. Any mutations of the DNA from the standard reference sample will enable new discoveries in a research setting and detection of a patient’s potential for disorders in the clinical setting. There are several methods of data analysis that follow resequencing, including:
Standard data analysis
• Alignment (Read mapping to current reference genome)
• Variant Calling (SNPs, InDels)
• CNV, SV Analysis* (Copy number variation, Structural variation)
Advanced data analysis
• A variety of options for mapping algorithms, variant detection algorithms, annotations,
  mapping to public database, group analysis, and case-control analysis are available.
*Data Analysis may vary depending on the availability of reference and the type of platform. For any inquiry of NGS service, please feel free to contact us.
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