WHY MaXome®?
MaXome® integrates comprehensive exome content, high-quality sequencing, advanced bioinformatics, and expert clinical interpretation within a validated genomic workflow to provide maximum insight for complex cases.
>99%
EXOME CONTENT COVERAGE
RefSeq, CCDS & GENCODE
MaXome® technology ensures greater than 99% coverage across major protein-coding annotation databases including RefSeq, CCDS, and GENCODE.
>Q40
SEQUENCING QUALITY
High-confidence genomic analysis
The validated MaXome® workflow delivers sequencing quality exceeding Q40, ensuring high-confidence data for clinical interpretation.
VALIDATED
CLINICAL WORKFLOW
From sequencing to medical report
MaXome® utilizes a structured clinical validation framework across all stages of genomic diagnostic testing for laboratory integration.
ASSESSED
EXTERNAL QUALITY FRAMEWORK
International quality assessment
Genomic workflows are independently evaluated through international quality assessment programmes across all diagnostic stages, from analysis to reporting.
PHENOTYPE PRIORITIZATION
Clinical phenotype data is integrated with genomic evidence for high-precision variant prioritization.
MEDICAL INTERPRETATION
Board-certified medical geneticists apply expert clinical context to genomic findings using scientific evidence.
COMPREHENSIVE CONTENT
HIGH-QUALITY SEQUENCING
VALIDATED WORKFLOW
EXPERT INTERPRETATION
MAXIMUM INSIGHT
COMPREHENSIVE CONTENT
BEYOND A SINGLE REFERENCE
>99% COVERAGE ACROSS
RefSeq, CCDS & GENCODE
MaXome® uses enrichment technology designed around
major protein-coding annotation resources:
RefSeq, CCDS, and GENCODE.
This advanced design provides >99% coverage across these databases, offering best-in-class representation of clinical genomic content for high-confidence interpretation.
RefSeq
CURATED REFERENCE SEQUENCES
Curated genomic and transcript reference sequences supporting consistent variant annotation and clinical interpretation.
CCDS
CONSENSUS CODING SEQUENCES
High-confidence consensus coding regions supporting robust representation of protein-coding sequences.
GENCODE
COMPREHENSIVE GENE ANNOTATION
Comprehensive gene and transcript annotation supporting broader representation of the evolving human exome.
INTEGRATED WHOLE EXOME RESOURCES
>99% CLINICAL COVERAGE
• RefSeq • CCDS • GENCODE
COMPREHENSIVE CONTENT DATASETS
FROM DATA TO DIAGNOSIS
MaXome® technology combined with VariantGen's clinically validated genomic interpretation workflow.
THE MaXome® WORKFLOW
From Clinical Question to Clinically Actionable Genomic Insight
STEP 01
COMPREHENSIVE Whole EXOME SEQUENCING
Protein-coding content is captured and sequenced through a whole exome workflow optimized for high-quality clinical analysis.
>Q40 SEQUENCING QUALITY
STEP 02
PHENOTYPE-DRIVEN PRIORITIZATION
Clinical phenotype and genomic evidence guide variant prioritization, focusing analysis on findings relevant to the specific clinical question.
STEP 03
EXPERT CLINICAL INTERPRETATION
Variants are evaluated within the clinical context of phenotype, inheritance, and current scientific evidence frameworks.
INTERPRETATION REQUIRES CONTEXT.
STEP 04
CLINICAL REPORTING
Clinically relevant findings are integrated into a structured genetic report communicating the results and clinical relevance of genomic analysis.
FROM FINDINGS TO CLINICALLY MEANINGFUL INSIGHT.
ADVANCED BIOINFORMATICS.
EXPERT INTERPRETATION.
MaXome® integrates validated bioinformatics with phenotype-driven prioritization and expert medical genetics interpretation. Genomic data are systematically processed to support the investigation of complex clinical cases.
[ SEQUENCE QUALITY ]
[ VARIANT ANNOTATION ]
[ PHENOTYPE INTEGRATION ]
[ VARIANT PRIORITIZATION ]
[ EVIDENCE ASSESSMENT ]
[ CLINICAL INTERPRETATION ]
ADVANCED TECHNOLOGY.
CLINICALLY VALIDATED.
MaXome® integrates comprehensive exome enrichment with validated sequencing, bioinformatics, and medical genetics interpretation within a singular clinical workflow.
EXOME CONTENT
>99% coverage across RefSeq, CCDS, and GENCODE protein-coding databases.
QUALITY SEQUENCING
Validated metrics consistently exceeding Q40 for high-confidence results.
BIOINFORMATICS
Optimized variant prioritization guided by clinical phenotype and genomic evidence.
CLINICAL EXPERTISE
Expert medical genetics interpretation applied within a diagnostic context.
TECHNOLOGY GENERATES DATA.
EXPERTISE TRANSFORMS IT INTO INSIGHT.
BY VARIANTGEN
GENETIC DIAGNOSIS, TREATMENT
AND HEALTHCARE CENTER
MaXome® combines comprehensive exome content with VariantGen's clinically validated genomic workflow.
RefSeq, CCDS, and GENCODE protein-coding coverage.
Validated high-quality sequencing performance.
Validated sequencing, bioinformatics, and clinical reporting workflow.
International quality assessment across the diagnostic pathway.
Medical genetics expertise applied to genomic analysis.
• COMPREHENSIVE EXOME • >99% CONTENT COVERAGE • >Q40 SEQUENCING QUALITY • PHENOTYPE-DRIVEN PRIORITIZATION • EXPERT INTERPRETATION •
QUALITY BUILT INTO THE WORKFLOW
MaXome® integrates comprehensive exome content, sequencing performance, validated bioinformatics, structured clinical validation, and expert medical genetics interpretation within a comprehensive genomic workflow.
>99% COVERAGE
>Q40 SEQUENCING QUALITY
CLINICALLY VALIDATED WORKFLOW
EXTERNALLY ASSESSED QUALITY FRAMEWORK
EXPERT CLINICAL INTERPRETATION
DISCUSS A COMPLEX CASE
Evaluating a complex phenotype, suspected rare disease, or previous negative testing?
Connect with the VariantGen team for clinical workflow support.
MaXome®
COMPREHENSIVE EXOME
MAXIMUM INSIGHT
© 2026 VariantGen. All rights reserved.
POWERED BY VARIANTGEN
GENETICS • GENOMICS • CLINICAL INSIGHT
VariantGen integrates laboratory sequencing, advanced bioinformatics, and medical genetics expertise into a clinically focused genomic workflow. High-performance technology achieves maximum value when coupled with expert phenotype-driven interpretation.
FROM LABORATORY DATA TO CLINICAL INSIGHT