WGS (Whole Genome Sequencing) 

Whole Genome Sequencing is the most comprehensive analysing method as it examines the entire genome of a specimen. Through our extensive sequencing platform options and subsequent data filtering and mapping process, we generate highly accurate, quality data for single nucleotide variants, insertions/deletions, copy number changes, and large structural variants. WGS is available for any specimen types, including human, animal, plant and microorganisms, in both de novo and resequencing approaches.

Macrogen is accredited to accommodate not only research based but also clinical samples for identifying inherited disorders, cancers, rare diseases, neuronal genetic disorders and pharmacogenomics.

Macrogen is committed to offering a competitive price in the market, whilst always delivering top-quality data, high mapping ratio and accurate variant calls. Our latest platform options will also deliver WGS more efficiently than other service providers.


Whole genome de novo sequencing

Whether it is large or small genome sequencing, Macrogen is able to carry out the sequencing of a novel genome that has no reference information available. By using the combination of Illumina’s highthroughput, short read sequencings, along with mate pair or long read sequencing options, we are able to provide a higher level of gap filled data than other publication data produces. If your genome of interest is totally unknown, you may be interested in our Genome Survey service.

Macrogen has introduced PacBio RSII and Sequel sequencing technology to resolve the long reads of the DNA strand, allowing observation of structure and cell type variation not clarified by other sequencing technologies. Macrogen’s flexibility of sequencing systems for long reads allows you to switch easily between platforms and applications as investigational needs change in the dynamic research environment.

Whole genome resequencing

Resequencing is a method that allows variation analysis, such as single nucleotide polymorphism (SNP), insertion and deletion (InDel), copy number variation (CNV), and structural variation analysis, by using already known reference genomes. The variation information obtained by resequencing is used to discover genes related to diseases and to conduct personalised medicine.

Standard Data Analysis

  •  Mapping to the current reference genome
  •  Analysis of mapping statistics
  •  SNPs and InDels calling
  •  Variant list in VCF or Excel formats

Phasing information

  • 10X chromium’s long linked read is able to attain phasing information of a genome. Please enquire to find out more about 10X technology.

Advanced Data Analysis

Variant annotation:

  •  SNPs and InDels are mapped to the current versions of SNV and related genome releases.

Functional annotation:

  •  Genes, gene structures, change of amino acids and cross-mapping to public databases.
  •  A variety of options for mapping algorithms, variant detection algorithms, annotations, mapping to public databases, group analysis and case control analysis.

Long Read Sequencing

Load read sequencing

NGS (new-generation sequencing) technology has dramatically increased productivity and provided novel insights into the structure and function of the genome. Despite these advances, researchers continue to face challenges in finishing genomes, characterising variations, and understanding the function of key biological markers. Achieving accurate read lengths of 1,000 base pairs (bp) or longer in a single sequencing reaction is valuable for investigators in many areas of research. We offer PacBio RSII and sequel and 10X chromium technology to resolve the long reads (up to 20 Kb) and long linked reads as well as bionano saphr’s genome mapping services to allow researchers to observe the structural and cell type variation not clarified by the other sequencing technologies. The flexibility of the sequencing systems of long reads at Macrogen allows us to switch easily between platforms and applications as investigational needs change in the dynamic research environment.

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