Human Genome Sequencing


The Human Genome Project (HGP) conducts human genome mapping by decoding the human genomic sequence, which opens the doors for human genome research successfully.

NGS technology can research the human genome more comprehensively. Starting from the perspective of various omics, NGS technologies can fully show the changes of various omics objectively. Under the whole genome scale, the Whole Human Genome Re-Sequencing technology combines Short-Reads, Paired-Ends and Insert-Size of different sizes for sequencing.

It can find the specific variations for the coding area and non-coding area such as Single Nucleotide Polymorphisms (SNPs, Insertions and Deletions (InDels), Structure Variations (SVs) and Copy Number Variations (CNVs), and sequence the regulation mechanism at the epigenetic level including DNA methylation. With the whole genome re-sequencing and bioinformatics analysis, it deeply explores the human genome and its functions. Therefore, countries from around the world successively launched the large human genome projects (such as: The 1000 Genomes Project, Netherlands, Japan; Singapore).

By sequencing thousands of whole human genomes for different countries, it was able to build the human gene database, with the aim of providing the information of inherited variation for human genomes, which can be applied in disease detection, prevention and personalized medicine.

Whole Human Genome Re-Sequencing technology can provide comprehensive genome variation information, which is used by many scientists to study diseases. It often helps obtain breakthrough achievements, which is applied more widely especially in the research of monogenic disease and cancer.



  • Inherited variation between individuals or populations, such as: genomic difference between different species.
  • Research on the pathogenesis of specific diseases, such as: the variation position of the disease gene.

Sample Required

Bioinformatics Solution

Sample Type
Bioinformatics analysis
Service Solution

Human Genome Sequencing

Whole-Exome Sequencing

Targeted Sequencing

 ● Quality trimmed
 ● Mapping to reference genome
 ● SNP/INDEL detection
 ● Quality trimmed
 ● Mapping to reference genome
 ● SNP/INDEL detection
 ● SNP/INDEL annotation by VEP