3billion is revolutionizing the existing methods and procedures to enable more people to benefit from faster and much accurate diagnosis at a lower cost. [Who is 3billion?] - 3billion provides an AI-driven clinical diagnostic testing on all 20,000+ genes encompassing 7,000+ rare genetic diseases for patients and physicians in need. - 3billion reanalyzes the undiagnosed patients’ genomic data every day without any additional charge. About 10% of undiagnosed patients can receive diagnosis by reanalysis. - More than 11,000 rare diseases patients with over 45,000 symptoms have been diagnosed. - More than 93% of acceptance rate on the 3billion’s test report by physicians. - 3billion has been collaborating with 100 medical institutions across 33 countries to make a diagnosis for rare disease patients. [Core Technology Features] - 3billion has expertise in medical genetics. We have streamlined the analysis pipeline using an automated variant prioritization system and are currently leading diagnostic technology by developing a pathogenicity prediction model of human variants. - 3billion devised a variant interpretation system, EVIDENCE, to automate the process. With the help of EVIDENCE, the variant interpretation takes less than 5 minutes per patient on average. - The EVIDENCE produces consistent variant interpretation according to the current medical guideline, ACMG-AMP interpretation guideline. 3billion's medical geneticist gives the diagnosis and confirms reported variants by Sanger validation (Richards S et al, 2015). - The analysis reflects the latest updates on diseases and genetic variants on daily basis. If any diagnosed case is identified through reanalysis, 3billion provides a report without any additional charge. - We offer Whole Exome Sequencing (WES) testing in Next Generation Sequencing. - Web-based portal service – easy access from all over the world. For any inquires, please contact us at support@3billion.io