Identification, interpretation and prioritization of genetic variants causing rare genetic diseases. dxOmics supports a broad range of NGS-based methods such as short- and long-read genome sequencing and RNA-seq, as well as detection and interpretation of all genetic variant types.
Tumor genomics and transcriptomics provides accurate identification of actionable mutations, aiding clinicians in selecting the most effective targeted therapies. In addition, multiple cancer biomarkers essential for treatment selection can be evaluated.
Transcriptome (RNA-seq) and Methylome (long-read genome sequencing) enable the comprehensive molecular characterization of patients and unlocks evaluation of several disease biomarkers.
Analysis of circulating tumor DNA (ctDNA) through liquid biopsy offers real-time monitoring of cancer treatment efficacy and disease progression, allowing for timely adjustments of therapeutic approaches
AI-driven clinical decision support systems assist clinical experts in identifying causal variants or, in case of large-scale re-analysis of unsolved cases, automate analysis and decision making.
Long-read sequencing enables precise detection of structural variants, repeat expansions, and complex regions, including pseudogenes, while also providing genome-wide CpG methylation profiles relevant to genetic diseases and cancers.