Next-Gen Sequencing

 

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Exome Sequencing
Introduction
Whole exome sequencing (WES) is a targeted approach that makes possible to identify variations in the protein coding part in a genome. For human, only about 2% of the whole genome is made up with exomes. This can be especially valuable because most known genetic variants actually occur in exons. With whole exome sequencing, DNA of known organism is mapped out using a reference genome, and specific genetic mutations and disease-causing variants are identified.
WES method can provide the genetic basis of Mendelian diseases or traits that have proven intractable to conventional gene discovery strategies. Exome sequencing of parent–child trios is a highly effective approach for identifying de novo coding mutations of a disease, as multiple de novo events occurring within a specific gene (or within a gene family or pathway) is an extremely unlikely event.
Commercially available target enrichment kits mainly utilize hybridization capture method using magnetic beads. Macrogen uses several industry leading kits for WES service depending on researchers’ needs. Please get it touch with us if you are looking to conduct other species’ exome experiment.
Main Capture Kits (Human)
• Agilent SureSelect Human All Exon kit
• Illumina Truseq DNA Exome Kit
• Twist Biosciences Human Core Exome Kit
Sequencing platform
• Illumina NovaSeq 6000 / HiSeq 4000 / HiSeq 2500
Data Analysis*
Standard data analysis
• Alignment (Reads mapping to current reference genome, hg19 or hg38)
• Variant Calling (SNPs, InDels)
• Annotation to various databases
Advanced data analysis
• CNV (Copy Number Variation)
• Cancer Analysis, Family/Trio Analysis, Population Analysis
• A variety of options for variant calling pipeline 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.
E-mail : ngs@macrogen.eu