Next-Gen Sequencing

 

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Exome/Targeted Sequencing
Introductions
Exons are short, functionally important sequences of DNA that are translated into protein. The human genome contains approximately 180,000 exons, constituting to about 1% of the entire genome, or 30 megabases (Mb) in length. While numerous studies have demonstrated the potential benefits of whole exome sequencing, its lengthy turnaround time has delayed many studies. MACROGEN provides rapid whole exome sequencing service using HiSeq®, MiSeq®, and Ion Proton™ platforms. These systems have revolutionized the speed at which human whole genome / exome scale sequencing can be performed. Rapid turnaround time with superior data quality is critical for studies that require accurate data quickly.
Alternatively, customized target sequencing is selective sequencing of the human genome, involving the capture of genomic regions of interest, enabling cost-effective and systematic detection of genetic diversities. MACROGEN provides various target enrichment tools following the customers' needs and applications.
Sequencing platform
• HiSeq2000/2500
• MiSeq system
• Ion Proton/PGM
Data Analysis*
Exome Sequencing
• Standard data analysis
- Variant Calling(SNPs/InDels)
- Variant Annotation
• Advanced data analysis
- Various Variant Calling Pipeline
- Tumor-Normal Paired Analysis
- Disease Associated Genetic Analysis
Targeted(Customized capture) Sequencing
• Standard data analysis
- Variant Calling (SNPs/InDels)
- Variant Annotation
• Advanced data analysis
- Various Variant Calling Pipeline
- Chip Concordance Analysis
*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.
E-mail : ngs@macrogen.com