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Q: What are the application fields of  human whole genome sequencing (WGS)?

A: a) Human evolution and comparative genomics research: the whole genome sequencing data could be used to study the racial evolution as well as identify the race specific genes and regions.

      b) Disease research: WGS data could be used to search the genome-wide loci or region associated with disease, suitable for the study of diseases with little molecular basis or mutations with huge structure variations.

Q: What is the recommended sequencing depth of human WGS?

A: The sequencing depth of human WGS depends on the purpose of research, the sample size and the expectation of customers.  The normal sequencing depth is 30X. When detecting the germline variations,  studying on the Monogenic Diseases or the small sample size complex diseases, the recommended sequencing depth is 30-50X. As to the large sample groups, the sequencing depth could be decreased if the aim is to analysis the SNPs or re-sequencing (10X). If the goal of research is to detect the SV in the cancerous tissue, ultra-deep sequencing is advised (≥50X).

Q: How to verify the result of WGS?

A: The verification strategies of SNPs, InDels, CNVs and SVs are different.

     a) SNPs: PCR and sanger sequencing; SNP genotyping.

     b) InDels: PCR and sanger sequencing.

     c) CNVs: Real-time PCR and estimate the CT value.

     d) small-size SVs: PCR and sanger sequencing; 

         huge-size SVs: FISH.