News and Press
Healthcare AI Company Breaks Through Final Barrier for Automated Genome Interpretation™April 15, 2025
Breakthrough Genomics, a California-based leader in AI-driven rare disease diagnostics, announced today a groundbreaking achievement in genome interpretation. Leveraging AI, the company has completed the world’s first fully-interpreted variant literature database covering over 10 miilion genetic variants..
Breakthrough Genomics Launches First-of-its-Kind Interpreted Literature Database for Virtual Geneticist™April 2, 2025
Breakthrough Genomics has launched a literature database that covers more than 10 million variant-paper pairs and includes detailed literature summaries, functional studies, disease segregation data, and more. The new database is designed to streamline and automate genetic variant classification and is included with a subscription to the company’s Al-powered Virtual Geneticist Platfrom.
Breakthrough Genomics Joins Forces with the PRECEDE Consortium to Help Accelerate the Early Detection of Pancreatic CancerNovember 21, 2024
Breakthrough Genomics announced today its collaboration with the PRECEDE Consortium to advance the clinical evaluation and adoption of its BT-Reveal™ Early Pancreatic Cancer Test. This groundbreaking blood test can detect the earliest signs of pancreatic cancer in circulating cell-free DNA, often before symptoms appear.
BREAKTHROUGH GENOMICS is Proud to be Among the Top Contributors to the ClinVar Database for Rare Disease VariantsOctober 29, 2024
To date, Breakthrough Genomics has added 129,000 variant submissions with interpretations that cover nearly 10,000 genes to this essential and freely-accessible database provided by the NIH. Our contribution to ClinVar is a way of giving back and making sure our scientific efforts are having a lasting impact.
VIRTUAL GENETICIST ™
BREAKTHROUGH GENOMICS Looks to Disrupt Rare Disease Diagnosis by Offering its Powerful Virtual Geneticist™ Platform for FreeOctober 8, 2024
Breakthrough Genomics – a leader in the clinical interpretation of genomic data – is set to launch a new version of its fully-automated, industry-leading genome reader Virtual Geneticist™ (VG). By making VG publicly available and free of cost, the company aims to democratize clinical genomic interpretation and accelerate rare disease diagnosis. The VG platform has a super-streamlined interface that allows users to enter basic clinical information and the accompanying genomic data and then receive the correct results in minutes.
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CIF 2024
INNOVATION
AWARD
BREAKTHROUGH GENOMICS Wins 2024 Innovation Award for AI-Driven Rare Disease Diagnosis and Early Cancer DetectionMay 20, 2024
Anaheim, California. Breakthrough Genomics – a leader in the interpretation of genomic data – announced today that it has been awarded the 2024 Innovation Award at this year’s California Investment Forum. The prize was given to recognize the company’s development of novel AI-based techniques to improve the diagnosis of nearly 6000 rare diseases and expand the capabilities of its early cancer detection tests.
ASHG’ 23 Presentation: A Clinician’s Review of the Virtual Geneticist™ Platform: Improving Transparency, Collaborative Variant Interpretation, and High-Throughput Diagnostics November 04, 2023
Dr. Adrienne Elbert, MD of British Columbia Children’s Hospital, highlighted the capabilities of Virtual GeneticistTM(VG) in a retrospective study involving nearly 800 rare disease WES cases. In the study, Dr. Elbert and her team found that by using VG they were able to solve an additional 10% of previously undiagnosed pediatric cases.
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