Focus Area
Genetic Disease: WES & WGS
WES and WGS workflows for rare disease programmes.
Next-generation sequencing (NGS) has transformed genetic disease research and clinical diagnostics by enabling comprehensive analysis of the human genome.
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Whole Exome Sequencing (WES)
Whole Exome Sequencing (WES) targets the protein-coding regions of the human genome, which contain the majority of known disease-associated variants. By capturing and sequencing exonic regions, WES enables comprehensive detection of single nucleotide variants (SNVs), small insertions and deletions (indels), and other genetic alterations.
Compared with targeted gene panels, WES does not require predefined candidate genes, enabling the discovery of novel, rare, and unexpected variants. Compared with Whole Genome Sequencing (WGS), WES offers a more cost-effective approach with reduced data complexity, making it a widely adopted solution for inherited disease research, rare disease studies, and genetic variant discovery.
High Accuracy
Delivering reliable sequencing performance for confident genetic variant detection.
Uniform Coverage
Providing consistent coverage across targeted exome regions for robust variant analysis.
Broad Compatibility
Compatible with mainstream exome enrichment kits and library preparation workflows.
Cost-Effective Analysis
Enabling comprehensive variant discovery with optimized sequencing and data analysis requirements.
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Whole Genome Sequencing (WGS)
Whole Genome Sequencing (WGS) analyzes the complete human genome, including coding regions, introns, intergenic regions, and regulatory elements, providing a comprehensive view of genetic variation. Unlike targeted sequencing approaches, WGS does not require probe-based enrichment and directly sequences genomic DNA, enabling broad detection of genetic variants across the genome.
WGS enables the identification of a wide range of genetic alterations, including single nucleotide variants (SNVs), small insertions and deletions (indels), copy number variations (CNVs), and structural variants (SVs), supporting comprehensive genomic analysis for genetic disease research and complex genomic studies.
Genome-Wide Analysis
Enabling comprehensive characterization of genetic variation across coding and non-coding regions.
Comprehensive Variant Detection
Supporting identification of SNVs, indels, CNVs, structural variants, and other genomic alterations.
Scalable Throughput
Flexible sequencing capacity supports projects ranging from individual samples to large-scale genomic studies.
Broad Compatibility
Compatible with diverse whole genome library preparation workflows.
X1 Bioinformatics Workstation
X1 Bioinformatics Workstation is an integrated bioinformatics solution, designed to streamline sequencing data analysis from raw data to application-ready reports. Featuring flexible hardware configurations and pre-built bioinformatics pipelines, it delivers plug-and-run, end-to-end data analysis for diverse laboratory throughput needs.
X1 requires no complicated deployment or professional bioinformatics setup, allowing one-click standardized analysis to cut hands-on work, shorten turnaround time, boost data security and deliver actionable sequencing results faster.
Highlights
Versatile Bioinformatics
Supports multiple bioinformatics plugins for a wide range of analysis applications.
Secure Offline Operation
Runs reliably offline to help keep sensitive data secure and private.
Easy to Use
No complex command-line operations required, enabling streamlined analysis with minimal training.
Intelligent System Management
Real-time memory and storage monitoring with early warnings to help prevent capacity issues.