Whole Genome Sequencing Services

Sequencing

whole genome sequencingWhole Genome Sequencing

The human genome is comprised of more than 3 billion nucleotides, which are the building blocks of our DNA. Hidden in the genome is valuable information about our genetic make-up, which can help inform our healthcare decisions. Macrogen Corp. provides whole genome sequencing services to patients and hospitals around the world. Whole genome sequencing is a method for analyzing genome sequences to identify and isolate genetic variations that may confirm, predict, or explain a patient’s risk for disease, susceptibility to toxins, and responsiveness to treatment.

Data Analysis

Macrogen provides a complete solution for variant discovery through two types of sequencing:

Standard data analysis:

  • Consensus Sequence (assembled into contigs)

Advanced data analysis:

  • Gene Prediction
  • Gene Annotation
Standard data analysis:

  • Mapping to the current plant reference genome
  • Analysis of mapping statistics
  • SNPs and InDels calling

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.

Sequencing platform

  • HiSeq X system (151bp Paired end)
  • HiSeq2000 / MiSeq System (Paired-end, Mate pair)
  • GS-FLX Titanium/Plus (Shotgun, Mate pair)

Also available as Cli-Seq.

 

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