應用分類
WGS & WES Data Analysis
Geneyx Integration & IT Architectures
Geneyx provides a comprehensive solution for hospitals and clinical laboratories to integrate patient data and findings with external data sources.
To serve the compliance needs of local medical compliance, the Geneyx site server is hosted on Taiwan Local Cloud, providing WES/WGS tertiary interpretation services for various medical centers.
Flexible Workflows with Geneyx Analysis
Geneyx Analysis is a powerful platform that empowers clinical researchers to streamline their diagnostic workflows while maintaining the flexibility to customize protocols and processes.
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Automated ACMG/ClinGen Variant Classification: With the ability to modify thresholds, users can tailor the variant classification to their specific needs.
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Comprehensive Annotation Updates: Monthly updates to the annotation engine, including databases like OMIM, CADD, Splice-AI, and CIVIC, keep the analysis current and comprehensive.
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Advanced Genomic Analysis: Geneyx Analysis supports the annotation of CNVs, SVs, repeats, and fusions, complemented by Enhancer and Focused SNV Analysis.
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Automated Workflows: Customizable filtering and reporting workflows based on Gene Panel, Exome, Genome, and variants of interest streamline the analysis process.
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The platform's support for sample re-analysis, coupled with the storage of interpretations, enables seamless downstream case analyses.
NGS Instrument
Illumina NGS systems, at the core of every rare disease workflow
Method | NextSeq 1000 and NextSeq 2000 | NovaSeq 6000 | NovaSeq X Series |
|---|---|---|---|
Human genomes per run | --- | 4 | 4-11 |
Long-read WGS | --- | O | O |
Human genomes per run | --- | 4-48 | 4-128 |
WGS | --- | O | O |
Human exomes per run | 4-48 | 40-500 | 41-750 |
WES | O | O | O |
Library Prep
Library preparation kits
Library prep kit | TruSight One Sequencing Panels | Illumina DNA with Exome 2 Plus Enrichment | Illumina DNA PCR-Free Prep | Illumina Complete Long Read Prep, Human |
|---|---|---|---|---|
Fragmentation included? | Yes–on bead | Yes–on bead | Yes–on bead | Yes–on bead |
Library quant needed? | No | No | No | No |
PCR protocol | Yes | Yes | No | No |
Automation available | Yes | Yes | Yes | Automation capable |
Sample types | Genomic DNA (gDNA) | gDNA, blood, saliva | gDNA, blood, saliva | gDNA |
Input | 10-1000 ng | 50-1000 ng | 25-300 ng | 50 ng |
Turnaround time | ~6.5 hr | ~6.5 hr | ~1.5 hr | ~8 hr |
Hands-on time | ~2 hr | ~2 hr | ~45 min | ~6.5 hr |
Method | Targeted enrichment | WES, targeted enrichment | WGS | WGS |
Instrument compatibility | NovaSeq 6000, NextSeq 2000 Systems | NovaSeq 6000, NextSeq 2000, NextSeq 1000 Systems | NovaSeq 6000 System | NovaSeq X Series, NovaSeq 6000 System |