Our Approach
At Genoxus, our mission is to empower families affected by genetic variation-associated conditions, which often impose significant emotional, time, and financial burdens. We provide families and caregivers with an interactive platform to explore and understand genetic test results through advanced variant annotation and disease-associated variant identification. Recognizing that many conditions arise from complex, multifactorial causes, we harness deep neural networks to uncover genetic patterns linked to diseases and symptoms. In parallel, we actively seek collaborations to build an integrated multi-omics framework, which integrates genomics, transcriptomics, proteomics, metabolomics and microbiomics, to accelerate discovery in both basic and clinical research.
Genetic Variation Interpretation
For many families, obtaining a concrete diagnosis of a genetic condition can be a long and frustrating journey, which often involves repeated doctor visits, numerous tests and prolonged waiting for answers. Early detection is critical for effective and timely intervention, which is why newborn genetic testing is becoming increasingly recommended.
At Genoxus, we developed a powerful engine that accelerates the processing of Whole Genome Sequencing (WGS) and Whole Exosome Sequencing (WES) to diagnosis, and creates a comprehensive variant-disease association profile for the tested individual, which helps clinicians and the family move quickly toward confident diagnoses.
Disease-Associated Genes Identification
Atypical neurodevelopmental conditions such as Autism Spectrum Disorder (ASD) and Attention-Deficit and Hyperactivity Disorder (ADHD), arise from complex, multifactorial mechanisms, and are frequently accompanied by complications such as seizure, sensory processing disorder, and digestive disorder. Comprehensive genetic assessment is therefore essential for understanding disease biology and development of individualized care plans. We are developing a Disease-Associated (DA) gene identification platform that aggregates impact of variants into gene-specific scores and extracts the DA pattern – a collection of the DA genes – with an ensemble of pretrained deep neural networks (DNNs). This platform is designed to enhance diagnostic interpretation and create opportunities for collaborative research in mechanism discovery, biomarker identification, and drug repurposing.
Multi-Omics Data Frame For Personalized Medicine
In the coming era of personalized medicine, achieving true precision requires systematic evaluation of the individual through a multi-omics lens, encompassing genomics, transcriptomics, proteomics, metabolomics, and microbiomics. We aim to develop an integrated framework that harmonizes multi-omics data across different stages of aging, enabling longitudinal and crossmodal insight at the individual level. The data processing module processes raw data streams from diverse omics sources and ingests processed data into the data hub. The multidimensional data hub supports DNN feature learning, health state assessment, and data-driven therapeutic discovery, including drug repurposing in the presence of disease or emerging clinical symptoms. This framework is designed to serve as a collaborative foundation for advancing precision medicine research and translational applications.