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 Introductions
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Whole genome sequencing offers the most comprehensive tools for detection of rare variants and structural variations in individual's genome. There are two approaches for assembling short fragmented sequence reads into longer contiguous genomic sequences, i.e., the de novo assembly approach which is the choice when the reference of genome does not yet known, and the reference-based resequencing approach.
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Both approaches have proven successful for confirming and characterizing the genetic diversity within the species, providing individual variations in the genome, such as single nucleotide variations (SNPs), InDels, copy number variations (CNVs), and structural variations.
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Recently, MACROGEN announced X-Genome service for human whole genome sequencing based on Illumina's HiSeq X Ten Sequencing System with the fast turnaround time and highly increased data output. It can provide our customers with full coverage human genome for total price of as low as $1000 with high quality, high-coverage sequencing data.
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Sequencing platform
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• HiSeq X Ten
• HiSeq2000/2500
• MiSeq (Paired-end, Mate pair)
• GS-FLX Titanium/Plus (Shotgun, Mate pair)
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Data Analysis*
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De novo sequencing
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• Standard data analysis
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- Consensus sequence assembled into contigs
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• Advanced data analysis
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- Gene prediction
- Gene annotation
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Resequencing
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• Standard data analysis
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- Mapping to the current plant reference genome
- Analysis of mapping statistics
- SNPs and InDels calling
- Variant list in Text/Excel formats
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• Advanced data analysis
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- Variant annotation : SNPs and InDels are mapped to the current versions of SNV
and related Genome releases
- Functional annotations : Gene, gene structure, change of amino acid and crooss-
mapping to public datavases
- Avariety of options for mapping algorithms, variant detection algorithms,
annotations, mapping to public database, group analysis, and case-control
analysis are available
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*Data Analysis may vary depending on the avaliability of reference and the type of platform.
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For any inquiry of NGS service, please feel free to contact us.
E-mail : ngs.apac@macrogen.com
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