Diagnostic Decision Support Platform
Multi-omics Variant Detection
Aberrant Splicing
Aberrant Gene & Transcript Expression
Allele-specific Expression
Multi-omics Variant Detection
G&M integrates genomic and transcriptomic data to identify and validate genetic variants with functional evidence from RNA-Seq, improving confidence beyond DNA-only approaches.
Aberrant Splicing
G&M enables comprehensive detection of aberrant splicing events, including exon skipping, exon elongation, truncation, pseudo-exon creation, and intron retention.
Aberrant Gene Expression
G&M identifies genes with abnormal expression levels by comparing patient data against tissue-matched control cohorts, supporting functional interpretation of candidate variants.
Aberrant Transcript Expression
G&M detects abnormal transcript-level expression patterns, enabling precise characterization of isoform-specific dysregulation that may be overlooked at the gene level.
Allele-specific Expression
G&M identifies monoallelic expression events by assessing allele-specific expression patterns, providing critical evidence for pathogenicity in heterozygous variants.
Gene-Based Analysis
G&M consolidates multi-omics evidence at the gene level, combining variant data, expression profiles, and splicing events to support comprehensive and efficient gene prioritization.