TS-003682 — The CAVALRI (Clinical Assessment of Variant Likelihood Ratios) algorithm is a new development in clinical genomics and diagnostics. Addressing the challenge of identifying diagnostic germline variants in rare genetic diseases, the IP utilizes a likelihood ratio framework to assess genetic mutations’ severity, phenotypic overlap with known diseases, and parental genotype concordance. It provides a scalable solution for rapid and accurate variant interpretation, aiding clinicians and variant scientists in identifying disease-causing variants from vast genomic data. By automating variant prioritization, CAVALRI reduces manual effort and time required for variant analysis, which enables faster diagnoses and potentially reducing diagnostic errors. CAVALRI surpasses existing methods by prioritizing diagnostic germline variants with higher accuracy, even in the presence of noisy computational phenotype sets. innovation in rare disease diagnostic algorithms. With its potential to revolutionize variant interpretation, CAVALRI garners interest from companies specializing in genomic diagnostics, clinical decision support software, and healthcare informatics. Its future development aims to integrate seamlessly into diagnostic laboratories and healthcare systems, streamlining genomic diagnostics and improving patient outcomes.