This work demonstrates that adopting MDSE principles provides a systematic methodology for transforming multifaceted clinical data into actionable medical insights and establishes a scalable architecture for high-quality, software-intensive systems in the healthcare domain.
The proposed BioTester is an oracle-based automated testing framework that integrates retrieval-augmented LLMs with a differential testing strategy to address the long-standing oracle problem in bioinformatics software testing, demonstrating superior defect-detection performance over existing methods on the constructed...
Xin Lian, Jia-Yin Wang, Xiao-Yi Zhu et al.· Briefings in Bioinformatics· 0 citations
HeartVar demonstrates that an LLM constrained by a domain-specific prompt and grounded in structured evidence can produce variant interpretations of first-pass quality for a cardiovascular disease cohort; however, it is not intended to replace manual assessment by a qualified variant curator.
Jamie-Lee M. Thompson, Debjani Das, Sally L. Dunwoodie et al.· bioRxiv· 0 citations
The protocol emphasizes several key components, including the preparation of standardized healthcare datasets, the development of stable machine learning models, the evaluation of predictive performance, the generation of clinically relevant explanations, and the statistical assessment of reproducibility across repeate...
Sital Dash, Kailas Patil· Journal of Visualized Experi...· 0 citations
Automated platforms that classify sequence variants under the American College of Medical Genetics and Genomics/Association for Molecular Pathology (ACMG/AMP) framework are increasingly used in rare-disease genomics, yet methodology for characterizing their performance at an early organizational stage is underdeveloped...
Vladimir Mitev· Frontiers in Genetics· 0 citations
Verification effort for FHIR-based clinical systems can be allocated by clinical consequence rather than by test-suite convention, extending quality obligations into the operational-behavior layer where specification-conformant systems have been shown to fail.
Pavlo Palamarchuk· Metaverse Science, Society a...· 0 citations
It is argued that precision-oncology AI should be evaluated not only by C-index, but by an integrated evidence package: discrimination, calibration, decision utility, subgroup fairness.
Cleopas Russell Choga, Manyara Sandra Kasanhayi, Nkosana Mkandla et al.· Iconic research and engineer...· 0 citations
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