3billion quadruples the speed of genetic analysis for rare diseases

[Financial News] 3billion, an artificial intelligence (AI)-based rare disease diagnostics company, will unveil research findings showing improvements to its gene-variant analysis technology and the potential to diagnose patients whose conditions could not be explained by existing tests.
3billion announced on the 16th that it will present four studies on topics including AI genome interpretation technology and results from its rare disease diagnostics business at the American Society of Human Genetics Annual Meeting (ASHG 2026), to be held in Montreal, Canada, from the 20th to the 24th.
The studies include two AI-based gene-variant analysis technologies. FindME, which detects mobile element insertion (MEI) variants, is four times faster than the best existing model and improves recall and accuracy by 7% and 2%, respectively. Recall is the proportion of actual variants that are detected, while accuracy refers to how closely the analysis results match reality.
3bCNV-GC, a copy number variant (CNV) analysis technology, reduced the false-positive rate by 76%. A copy number variant is a genetic change in which some sections of DNA are present in greater or lesser amounts than normal. Lowering the false-positive rate can reduce unnecessary follow-up tests and improve confidence in diagnoses.
The company will also present a study of patients whose conditions could not be explained by existing tests. 3billion performed long-read whole-genome sequencing (Long-read WGS) on 198 patient families and diagnosed 36 of them. Long-read analysis reads long DNA sequences and is used to detect complex structural variants that are difficult to identify with conventional next-generation sequencing (NGS).
The company will also disclose results from a government-funded program. 3billion participated in the National Rare Disease Genomic Diagnosis Support Program from 2023 to 2025. During that period, the number of participating medical institutions rose from 11 to 34, and the average distance patients traveled for diagnosis fell by about 200 km. The diagnostic rate was 34.9%, and results were reported in an average of 26.1 days.
Rare diseases often take a long time to diagnose because their symptoms vary and their causes are difficult to identify. The studies point to the potential to improve access to diagnosis through better genetic analysis and collaboration with regional medical institutions.
3billion CEO Geum Chang-won said, “These research findings represent improvements in the accuracy and analytical efficiency of our AI diagnostic platform. Building on our technological competitiveness and global service network, we will expand our business in the rare disease diagnostics market.”
ASHG is a major international conference in the fields of human genetics and genomic research. At this year’s meeting, 3billion plans to present its gene-variant interpretation technology, diagnostic cases, and results from the government-funded program.

[email protected] Jeong Sang-hui Reporter