Exome sequencing provides a cost-effective alternative to whole genome sequencing, as it targets only the protein coding region of the human genome responsible for a majority of known disease-related variants. Whether you are conducting studies in rare Mendelian disorders, complex disease, cancer research, or human population studies, genetikode’s comprehensive human whole exome sequencing service provides a high-quality, affordable, and convenient solution.

Genetikode’s bioinformatics analysis includes data QC, mapping with reference genome, SNP/InDel, somatic SNP/InDel calling, statistics, and annotation. Genetikode utilizes internationally recognized software in bioinformatics analysis, e.g. BWA, SAMtools, GATK, etc.

In particular, genetikode's bioinformatics pipeline includes annotation with the exome aggregation consortium (ExAC). ExAC dataset spans 60,706 unrelated individuals sequenced as part of various disease-specific and population genetic studies. This population scale database greatly facilitates research of disease pathogenesis.

• Exome Capture: Agilent SureSelect Human All Exon V6 Kit.
• 180-280 bp insert DNA library.
• HiSeq platform, paired-end 150 bp.
• We guarantee that ≥ 80% of bases have a sequencing quality score ≥ Q30, which exceeds Illumina's offical guarantee of ≥75%.
• Turnaround Time: Within 21 working days after verification of sample quality (without data analysis). Additional 5 working days for data analysis.

• 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 (Trio/Quartet).
• 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.