Exome / Targeted Sequencing

Exome / Targeted Sequencing

Introduction
Human exome sequencing is selective sequencing of coding regions of the human genome, after the exome has been efficiently captured.

  • Three enrichment methods are available for specific applications :
    • lllumina Nextera Exome Enrichment Kit
    • Twist BioScience Human Core Exome Kit
  • Macrogen offers extensive data filtering and mapping for accurate SNP and lnDel determinations.

Sequencing Platforms

  • HiSeq 2500/4000, NovaSeq 6000
  • NextSeq 500, MiSeq


Data Analysis*

Exome Sequencing

  • Standard Data Analysis
    • Variant Calling (SNPs / In Deis) & Annotation
  • Advanced Data Analysis
    • NV (Copy Number Variation)
    • Various Variant Calling Pipeline
    • Cancer Analysis/ Family Analysis/ Population Analysis

Customized Targeted Sequencing

  • Standard Data Analysis
    • Variant Calling (SNPs / In Deis) & Annotation
  • Advanced Data Analysis
    • Various Variant Calling Pipeline
    • Population Analysis

 

QuotationOrder Sheet

 

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