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.

Equipped with powerful Illumina HiSeq X and NovaSeq 6000, NextSeq systems, our laboratory is capable of sequencing at the lowest cost per genome. Being one of the first few companies to adopt NGS technologies, we have extensive experience providing whole genome sequencing services, having successfully sequenced hundreds of genomes with high quality results. With the world’s largest sequencing capacity, deep experience in whole genome sequencing, and advanced bioinformatics capabilities, we are able to expertly meet customer needs for executing large projects with timely turnaround and the highest quality results.

• 350 bp insert DNA library.
• HiSeq X platform or NovaSeq 6000 platform, paired-end 150 bp.
• We guarantee that ≥ 80% of bases have a sequencing quality score ≥ Q30, which exceeds Illumina’s official guarantee of ≥ 75%.
• Turnaround Time: Within 21 working days after verification of sample quality (without data analysis). Additional 8 working days for data analysis.

• Data quality control: filtering out reads containing adapters or with low quality.
• Alignment with reference genome, statistics of sequencing depth and coverage.
• SNP/InDel/SV/CNV calling, annotation and statistics.
• Somatic SNP/InDel/SV/CNV calling, annotation and statistics (paired tumor samples).

• Variant filtering.
• Analysis under dominant/recessive model (Pedigree information is needed).
• Functional annotation of candidate genes.
• Pathway enrichment analysis of candidate genes.
• Linkage analysis.
• Regions of homozygosity (ROH) analysis.

• Variant filtering.
• Analysis under dominant/recessive model (Pedigree information is needed).
• Functional annotation of candidate genes.
• Pathway enrichment analysis of candidate genes.
• De novo mutation analysis.
• De novo SNP/InDel detection.
• Calculation of de novo mutation rates.
• De novo CNV/SV and De novo SV/CNV detection.
• Protein-protein interaction (PPI) analysis.
• Association analysis of candidate genes (at least 20 trios or case/control pairs).

• Screening for predisposing genes.
• Mutation spectrum & mutation signature analyses.
• Screening for known driver genes.
• Analyses of tumor significantly mutated genes.
• Analysis of copy number variations (CNV).
• Fusion gene detection (for WGS project only).
• Purity & ploidy analyses of tumor samples.
• Tumor heterogeneity analyses.
• Tumor evolution analysis.
• Display of genomic variants with Circos.