Service
Whole Exome Sequencing
High-resolution detection of coding variants for disease research, diagnostics, and discovery
Key advantages
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Focuses on exons the ~1-2% of the genome most relevant to disease
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Detects SNPs and indels in coding regions with high accuracy
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Cost-effective alternative to whole genome sequencing for clinical use
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Compatible with human, animal, and model organism exomes
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Enables discovery of disease-causing mutations in Mendelian and complex disorders
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Applicable to oncology, neurology, and rare disease diagnostics
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Custom capture panels available for gene sets of interest
Technical specifications
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Sequencing platforms: Illumina NovaSeq 6000, Illumina NovaSeq X Plus, MGI DNBSEQ-T7, and beyond
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Typical coverage: ≥100× for germline, ≥200× for tumor
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Exome capture kits: Agilent SureSelect, Twist Bioscience, IDT xGen, Vazyme VAHTS Target Capture Core and beyond
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Outputs: FASTQ, BAM, VCF files with variant annotation and quality metrics
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Bioinformatics pipeline: variant calling, annotation, and ACMG classification
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Optional analyses: CNV detection from exome data, mitochondrial genome, pharmacogenomics
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Data delivery: secure portal with clinical-grade variant interpretation
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Reporting: configurable to research or diagnostic standards