Human whole genome sequencing enables researchers to catalog the genetic constitution of individuals and capture all the variants present in a single assay. It is applied to the study of cancer and a variety of diseases, as well as human population evolution studies and pharmacogenomics.
1. State-of-the-art NGS technologies: LifeSct is a world leader in sequencing capacity using state-of-the-art technology, including the latest generation Illumina HiSeq X Ten.
2. Highest data quality: We guarantee a Q30 score ≥ 80%, exceeding Illumina’s official guarantee of ≥75%.
3. Extraordinary informatics expertise: LifeSct uses its cutting-edge bioinformatics pipeline and internationally recognized best-in-class software to provide customers highly reliable “publication-ready data”.
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Project | Description | Unit Price | Turnaround Time |
| Library Preparation | $150/sample | 15-20 business days |
Sequencing | $25/G | ||
FTP | $50 |
Sequencing Strategy: | 1. 350 bp insert DNA library 2. HiSeq X platform, paired-end 150 bp |
Data Quality Guarantee: | We guarantee that ≥ 80% of bases have a sequencing quality score ≥ Q30, which exceeds Illumina’s official guarantee of ≥ 75%. |
Sample Requirements: | 1. Input DNA: For fresh sample: ≥ 1.0 μg (a minimum of 200 ng can be accepted with risk); For FFPE sample: ≥ 1.5 μg 2. DNA concentration: ≥ 20 ng/μl 3. DNA volume: ≥ 10 μl 4. Purity: OD260/280 = 1.8 - 2.0 without degradation or RNA contamination |
Turnaround Time: | 1. 15 working days after verification of sample quality (without data analysis) 2. Additional 8 working days for data analysis |
Recommended Sequencing Depth: | 1. For tumor tissues: 50×, adjacent normal tissues and blood 30× 2. For rare diseases: 30~50× |
Bioinformatics Analysis: | 1. Data quality control: filtering out reads containing adapters or with low quality 2. Alignment with reference genome, statistics of sequencing depth and coverage 3. SNP/InDel/SV/CNV calling, annotation and statistics 4. Somatic SNP/InDel/SV/CNV calling, annotation and statistics (paired tumor samples) |
Order Guide: | Please get a quote via support@lifesct.com or secured online quotation |
Monogenic Disorders: | 1. Variant filtering 2. Analysis under dominant/recessive model (Pedigree information is needed) 2.1 Analysis under dominant model 2.2 Analysis under recessive model 3. Functional annotation of candidate genes 4. Pathway enrichment analysis of candidate genes 5. Linkage analysis 6. Regions of homozygosity (ROH) analysis |
Complex/multifactorial Disorders: | 1. Variant filtering 2. Analysis under dominant/recessive model (Pedigree information is needed) 2.1 Analysis under dominant model 2.2 Analysis under recessive model 3. Functional annotation of candidate genes 4. Pathway enrichment analysis of candidate genes 5. De novo mutation analysis (Trio/Quartet) 5.1 De novo SNP/InDel detection 5.2 Calculation of de novo mutation rates 5.3 De novo CNV/SV and De novo SV/CNV detection 6. Protein-protein interaction (PPI) analysis 7. Association analysis of candidate genes (at least 20 trios or case/control pairs) |
Cancer: | 1. Screening for predisposing genes 2. Mutation spectrum & mutation signature analyses 3. Screening for known driver genes 4. Analyses of tumor significantly mutated genes 5. Analysis of copy number variations (CNV) 5.1. Analysis of CNV distribution 5.2.Analysis of CNV recurrence 6. Fusion gene detection (for WGS porject only) 7. Purity & ploidy analyses of tumor samples 8. Tumor heterogeneity analyses 9. Tumor evolution analysis 10. Display of genomic variants with Circos |