Whole Genome Sequencing(WGS) is a method that can gain genetic information of the whole genomes of a model organism and human by reading them all at once.
By utilizing the data gained through WGS, analysis of various variants such as single nucleotide polymorphisms (SNPs), insertions/deletions (InDels), and copy number variants (CNVs), and structural variations can be done.
The report data studied through bioinformatics will be presented along with Variant Call Format (VCF), Annotation Result Excel Format (xls).
• Resequencing
Resequencing allows to find and compare genetic mutations by using a known reference genome.
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Individual Genome/ General Disease | Population Genomics | Cancer / Rare Disease | |
Objective | Obtaining variants of each sample for downstream analysis | Population and phylogenetic analysis disease and phenotype relationship analysis | Detecting cancer specific and/or rare variants |
Sufficient depth | 30X | 10X | 100X/200X |
Sample Requirements | Minimum Quantity 1 µg, Minimum Concentration = 50 ng/µl, OD 260/280=1.6~2.0 | ||
Deliverables | Raw data(FASTQ), statistics of raw data, Mapping to reference genome, SNPs and InDels calling,Variant annotation, Functional annotations * May vary depending on the sample types, species, and data analysis. |
• De novo sequencing
De novo sequencing is used for analysis of genetic information of a newly found species without any references, which allows to undergo comparative analysis for variant characteristics and gene variety in detail. Thus, De novo sequencing requires highly advanced technologies to generate a draft map and a fine map. For creating a successive, complete de novo genome, various types of libraries (200 bp, 500 bp, 2 kb, 5 kb, 10 kb, 20 kb) are constructed to be used for the analysis.
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General sequencing depth | Gene coverage | Genome Coverage | Accuracy | Contig Sequence N50 | Scaffold Sequence N50 | |
Draft Map | 60X | 95% | 90% (except heterochromatin region) |
99.999% | >50 kb | >20 kb |
Fine Map | 80X | 98% | 95% (except heterochromatin region) |
99.999% | >20 kb | >300 kb |
Sample Requirements | Minimum Quantity 3µg, Minimum Concentration = 50ng/µl, OD 260/280=1.6~2.0 | |||||
Deliverables | Raw data(FASTQ), statistics of raw data, de novo assembly, taxonomy profiling, k-mer analysis, Gene prediction, Gene annotation * May vary depending on the sample types, species, and data analysis. |