Whole Genome Sequencing

Key advantages

• Covers 100% of the genome: coding, non-coding, regulatory, and intergenic regions

• Detects SNVs, indels, structural variants (SVs), CNVs, and repeat expansions

• Ideal for complex disease studies, oncology, population genomics, and rare disease diagnosis

• Hypothesis-free approach no prior target selection needed

• Supports trio, family, and large cohort study designs

• Applicable to human, animal, plant, and microbial genomes

• Facilitates longitudinal reanalysis as genomic knowledge evolves

• Enables precision medicine, biomarker discovery, and novel variant identification

Technical specifications

• Sequencing performed on Illumina NovaSeq 6000, Illumina NovaSeq X Plus, MGI DNBSEQ-T7, and beyond

• Typical coverage: 30× for germline, ≥60× for tumor/somatic profiling

• Library preparation: PCR-free or PCR-based, depending on input and application

• Outputs: FASTQ, BAM, VCF files with comprehensive annotation (according to ClinVar database)

• Variant detection: SNVs, indels, SVs, CNVs, mitochondrial genome variants

• Optional analyses: long-read data integration, phasing, allele-specific expression, telomere length analysis

• Bioinformatics pipeline: advanced variant filtering, prioritization, and phenotype-driven interpretation

• Secure data delivery with interactive genome browsers and detailed reports

• Clinical-grade reporting compliant with CLIA/CAP standards