Human – Macrogen

Human Genomics at Macrogen

At Macrogen, we make exploring human genomic variation easier and more accessible than ever. Using the latest technology, we deliver high-depth sequencing, long read lengths, and uniform coverage with exceptional accuracy. Our services are perfect for cancer genome studies, tumour vs. control comparisons for SNP, CNV, and SV analysis, as well as low-depth coverage projects. We also support population genomics, pharmacogenomics, and inherited disease research with whole genome sequencing (WGS).

With the capacity to handle up to 300,000 WGS or equivalent applications annually, we ensure a smooth workflow and reliable results. Even for large and complex projects, our typical turnaround time is just 4 to 6 weeks.

Whole Genome Sequencing (WGS)

Whole Genome Sequencing (WGS)
Platform	Illumina	Pacbio	Pacbio
	NovaseqX plus 150bpPE (Express service)*** Novaseq6000 150bpPE Miseq 300bpPE	Revio
Sample type	gDNA, Blood**, tissue, FFPE**
Library kit type	Truseq PCR free DNA kit Truseq Nano DNA kit Chromium Genome Library	10Kb SMRTbell Templates 20kb SMRTbell Templates	SMRTbell Express Templates
Sample QC Requirement	Concentration: >10-20ng/ul Volumne: >10-100ul Total Amount: 100ng-2ug Purity (A260/280 ratio): >1.7 DIN: 7.0 (Chromimum library only)	Concentration: >50ng/ul Volumne: >120-160ul Total Amount: 6-8ug	Concentration: >50ng/ul Volumne: >160ul Total Amount: 8ug
For detailed sample requirement, please refer to following link: Download full list of ‘Sample QC Criteria’
Turnaround time **	2-4 weeks*** or 4-6 weeks
Date Analysis	De novo • Standard data analysis – Consensus sequence assembled into contigs • Advanced data analysis – Gene prediction – Gene annotation
Date Analysis	Re sequencing • Standard data analysis – Mapping to the current plant reference genome – Analysis of mapping statistics – SNPs and InDels calling – Variant list in Text/Excel formats • Advanced data analysis – 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 databases – Variety of options for mapping algorithms, variant detection algorithms, annotations, mapping to public database, group analysis, and case-control analysis are available

Recommended Coverage / Reads lenghth	15X, 30X, 60X, 90X	5-10X	5-10X

* library construction platform

** TAT from sample QC passed

*** TAT 2-3 Express service, fee applies

**** gDNA extraction, fee applies

Service Overview

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Sample requirement

Sample submit guide

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Human exome/targeted | Epigenome | Metagenome (Microbiome) Sequencing

	Human exome \| targeted Sequencing	Epigenome Sequencing	Metagenome (Microbiome) Sequencing
Platform	Illumina	Illumina	Illumina
	Novaseq6000 150bpPE or 100bpPE Hiseq4000 100bpPE Hiseq2500 100bpPE	Hiseq Xten 150bpPE Hiseq4000 100bpPE Hiseq2500 100bpPE	MiSeq 300bpPE HiSeq2500 100bpPE
Sample Type	gDNA, Blood**, tissue, FFPE**
Library kit type	Agilent SureSelect Exome Capture kit	Accel DNA Methylation kit	Truseq 16S amplicon protocol (Targeting V3-V4)
	Truseq 16S amplicon protocol	Whole Genome Bisulfite Treated DNA Library kit	Truseq Nano DNA kit (350bp insert)
	Chromium Genome Exome Capture Library kit	MBD Enriched Library
Sample QC Requirement	Concentration: >10-50ng/ul Volumne: >10-20ul Total Amount: 1ug Purity (A260/280 ratio): >1.7 DIN: 7.0 (Chromimum library only)	Concentration: >10-50ng/ul Volumne: >10-100ul Total Amount: 200ng-5ug Purity (A260/280 ratio): >1.7	Concentration: >10-50ng/ul Volumne: >10-20ul Total Amount: 200ng-1ug Purity (A260/280 ratio): >1.7
For detailed sample requirement, please refer to following link: Download full list of ‘Sample QC Criteria’
Turnaround time**	4-6 weeks
Data Analysis	Exome		16S (or 18S) rRNA Sequencing
	• Standard data analysis – Variant Calling(SNPs/InDels) – Variant Annotation	• Standard data analysis Global Methylation Profiles Specific Methylation Profiles – CpG Islands – Differentially Methylation Regions (DMRs)	• Global Alignment • Taxonomic Assignment • OTU Counting • Comparative Analysis
	• Advanced data analysis – Various Variant Calling Pipeline – Tumor-Normal Paired Analysis – Disease Associated Genetic Analysis	• Advanced data analysis – DMR-Associated Genes – Gene Set Analysis – Comparative Analysis
Data Analysis	Targeted (Customised capture)	Whole Genome Shotgun Sequencing	Whole Genome Shotgun Sequencing
Data Analysis	• Standard data analysis – Variant Calling (SNPs/InDels) – Variant Annotation• Advanced data analysis – Various Variant Calling Pipeline – Chip Concordance Analysis		• De novo Assembly • BlastX • Gene Prediction • Functional Assignment • OTU Counting • Statistical Analysis

Recommended Coverage/ Reads length	100X, 200X, 300X, 500X	15X, 30X / 60M reads	50-100K reads (16S), 100X for shotgun metagenome

*library construction platform
** TAT from sample QC passed
*** TAT 2-4 Express service
****gDNA extraction fee applies