• Lost sample to Gb
  • Lost extractions to bioinformatics
  • Lost amplicons to whole genomes

Human Genome Resequencing

Genetic variation influences almost all human diseases. Germline variants cause or contribute to genetic disease or predisposition to rare and common disease, while somatic variants are additional causes of onset and evolution in cancer. With the application of whole genome sequencing (WGS), researchers are able to catalog the genetic constitution of individuals and capture all the variants present in a single assay.

As the first distributor of Illumina Hiseq X Ten platform in China, Novogene provides whole genome sequencing service to detect genome-wide genetic variation, pathogenic and susceptibility gene, and further enables the genotype diversity analysis and genetic evolution analysis.

Project Workflow

Genome Reseq workflow

Sequencing Strategy

• 350 bp insertion DNA library
• HiSeq X Platform, Paired-end150 bp


Sample Requirements

• DNA amount: ≥1.5 μg
• DNA concentration: ≥50 ng/μL
• Purity: OD 260/280= 1.8-2.0 without degradation and RNA contamination


Turnaround Time


• Within 30 days from sample verification


Recommended Sequencing Depth


• For normal sample: effective sequencing depth 30X
• For tumor sample: effective sequencing depth 50X


Analysis Pipeline

Genome Analysis pipeline