Genoxus Annotation™ v1.0 Now Openly Accessible on the Amazon Web Services Cloud

Harmonized Human Genetic Variant Annotation Dataset Now Openly Accessible via the Registry of Open Data on AWS

SAN DIEGO, CA, April 20, 2026 — Genoxus today announced that the Genoxus Annotation™ v1.0 dataset is now openly accessible on the Amazon Web Services (AWS) cloud.

Better information sharing has the power to accelerate discoveries and improve the world around us. The research community can now access Genoxus Annotation v1.0 on AWS without needing to pay to store their own copies of the dataset. Researchers will only pay for the computing services they use, and do not need to purchase storage to start a project using the dataset. AWS, through its Open Data Sponsorship Program, is covering the costs of the storage and transfer of the data, so that it can be accessed and analyzed in the cloud by researchers around the world.

Genoxus Annotation v1.0 is a harmonized and curated collection of human genetic variant data designed to support accurate and scalable variant annotation. The dataset integrates and standardizes information from leading genomic resources such as ClinVar and the GWAS Catalog, encompassing a wide spectrum of variant types including single nucleotide variants (SNVs), insertions, deletions, copy number variations (CNVs), and structural variants. By unifying variant representations, normalizing disease terminology, and consolidating evidence across multiple sources, the dataset provides a streamlined framework for interpreting genomic data derived from whole genome sequencing (WGS) and whole exome sequencing (WES).

The dataset is organized for high-performance cloud access, with genomic data partitioned by chromosome and base pair intervals, enabling efficient querying and scalable analysis. Hosted in optimized formats such as Parquet, Genoxus Annotation v1.0 supports modern analytics workflows and tools, including SQL-based querying engines. This architecture allows researchers, bioinformaticians, and clinical teams to rapidly identify disease-associated variants and generate insights without the overhead of managing large-scale genomic infrastructure.

In one real-world case, Genoxus applied its annotation dataset to reanalyze the genomic data of a pediatric patient (“Patient-X”) whose prior testing had identified a large chromosomal deletion but failed to provide clear clinical answers. The original report highlighted only a limited subset of genes and did not connect the finding to the patient’s symptoms. Genoxus systematically processed the entire deleted segment, integrating evidence from multiple sources to uncover a strong association with a known neurodevelopmental syndrome. This deeper analysis translated fragmented data into a cohesive clinical narrative, guiding the family and care team toward targeted follow-up evaluations—including confirmation of autism spectrum disorder. For the patient’s family, what was once an uncertain and inconclusive diagnosis became a clearer path forward, demonstrating how comprehensive interpretation can meaningfully impact real lives.

By making this dataset openly accessible on AWS, Genoxus is enabling faster research cycles, improved collaboration across institutions, and broader access to high-quality genomic annotation resources. This advancement supports applications ranging from rare disease research to population-scale genomics and precision medicine initiatives.

“Access to high-quality, well-structured genomic data is one of the biggest bottlenecks in advancing precision medicine,” said Jingqi Duan, Ph.D., CEO and Founder of Genoxus. “By making Genoxus Annotation v1.0 openly available on AWS, we are lowering the barrier for researchers and organizations worldwide to perform scalable variant interpretation, accelerate discovery, and ultimately improve patient outcomes. This is a major step toward democratizing genomic intelligence.”

The AWS Open Data Sponsorship Program covers the cost of storage and egress for publicly available, high-value, cloud-optimized datasets. AWS works with data providers to democratize access to data by making it available for analysis on AWS; develop new cloud-native techniques, formats, and tools that lower the cost of working with data; and encourage the development of communities that benefit from access to shared datasets. Through the program, AWS has democratized access to petabytes of data, including satellite imagery, climate and weather data, genomic data, and data used for natural language processing. The full list of publicly available datasets is available on the Registry of Open Data on AWS.

To learn more and access Genoxus Annotation v1.0, visit:
[REGISTRY LINK – TBD]

About Genoxus
Genoxus is a genomics technology company focused on transforming how genetic data is interpreted and utilized. By building scalable, cloud-native solutions for genomic annotation and analysis, Genoxus empowers researchers, clinicians, and organizations to unlock actionable insights from complex genomic data. The company’s mission is to accelerate precision medicine by making high-quality genomic interpretation more accessible, efficient, and impactful worldwide.

Press/Media Contact:
Email: press@genoxuslabs.com