Less than 40% of genetic cases are solved initially; Emedgene’s new algorithm ‘Pathorolo’ enables automated reanalysis of past cases by identifying the cases most likely to be solved
Less than 40% of genetic cases are solved initially; Emedgene’s new algorithm ‘Pathorolo’ enables automated reanalysis of past cases by identifying the cases most likely to be solved
Palo Alto, California – October, 2019 — Emedgene, the world’s first completely automated genetic interpretation platform, announces the launch of Pathorolo, its unique machine learning algorithm capable of determining the likelihood of a genomic case to be solved with available information. This includes the most recent scientific literature curated automatically using Natural Language Processing.
Pathorolo will enable labs to automate reanalysis, by focusing valuable geneticist time only on cases with high chances of positive outcomes. On the flip side, Pathorolo can clearly demark cases that are unlikely to be solved, allowing the interpretation team to recognize when to stop researching, since the available information won’t allow a genomic case to be solved. In clinical use, the model can both improve yield and reduce time-spent-per-case.
Pathorolo gives each case a score which is associated with the probability of being solved, and allows labs to set their own analysis thresholds. The model was trained and validated with large datasets of clinical cases.
“Pathorolo is a new and unique layer of explainable AI, and we are really excited to share more details during ASHG event in Houston,” says Dr. Shay Tzur, Chief Science Officer of Emedgene. “Emedgene’s AI is already able to pinpoint causative variants, now it can also identify when a genomic case is likely to be solved. The algorithm is essentially scoring itself, which is extremely useful in evaluating its output.”
About
Emedgene is a highly accurate AI-based genomic interpretation platform adopted by leading genetic labs including Baylor Genetics, Baylor College of Medicine, Medical College of Wisconsin, Greenwood Genetic Center, TGEN and Clalit HMO. The platform automates the genomic analysis and interpretation workflow, reducing time spent per case by 50% or more, while increasing yield and accelerating discovery.
Read more at www.emedgene.com.
Read more about Pathorolo at www.emedgene.com/pathorolo.
