Human Whole-genome sequencing (hWGS), mainly relying on high-throughput sequencing technique, obtains the whole genome sequence information of different human tissue samples, and comprehensively obtains the individual or group level structural variation information through bioinformatics analysis such as map reads to the reference genomes. hWGS provides important information for the study of pathogenesis and genetic mechanisms of diseases andcancers, and is also an important means on anthropogenesis and population evolution.  

Experiment design → Sample preparation → Library construction & sequencing → Data analysis → After-sales service 

1. Obtain comprehensive genetics variations;

2. Provide various advanced analysis  according to different needs;

3. Provide  multiple database support, such as TCGA, IPA, HGMD, IVA and so on; 

Pathogenesis, Genetic mechanism, biomarkers, Cancer research 

Circos based on whole genomic results

Candidate gene GO: Biological Process enrichment bar plot

The candidate genes obtained were carried out functional enrichment such as GO, Pathway, miRNA, Disease (Chen J et al. 2009-2), Proteome, Phenotype, etc. by online tool ToppGene Suit-ToppFun. In enrichment analysis, the multiple test correction value Q-value of P-value is used to control FDR. 

In addition, more stringent multiple correction method Bonferroni can also be adopted. The default enrichment significance threshold is Q-value < 0.05 that controls FDR.

PPI network analysis of candidate gene set 

PPI network analysis was carried out on the candidate gene set to find the co-regulated genes that interact. Similar to metabolic pathways, mutant genes may differ from patient to patient, but phenotypes caused by interacting gene mutations may be consistent. Using the online tool DAPPLE to look for mutant genes that interact with each other can help locate virulence genes that are truly related to diseases.