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Updated: Dec 28, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Extension of the Quantum Universal Exchange Language to precision medicine and drug lead discovery. Preliminary
1Ingine Inc., Delaware, USA; The Dirac Foundation, OxfordShire, UK.
Abstract:
The Quantum Universal Exchange Language (Q-UEL) based on Dirac notation and algebra from quantum mechanics, along with its associated data mining and Hyperbolic Dirac Net (HDN) for probabilistic inference, has proven to be a useful architectural principle for knowledge management, analysis and prediction systems in medicine. It has been described in several papers; here is described its extension to clinical genomics and precision medicine. Two use cases are studied: (a) bioinformatics in clinical decision support especially for risk for type 2 diabetes using mitochondrial patient DNA sequences, and (b) bioinformatics and computational biology (conformational) research examples related to drug discovery involving the recently discovered class of mitochondrial derived peptides (MDPs). MDPs were surprising when first discovered as coded in small open reading frames (sORFs), and are emerging as having a fundamental role in metabolic control, longevity and disease. This project originally represented a language specification study relating to what information related to genomics is essential or useful to carry, and what processing will be needed. However, novel aspects introduced or discovered include the HDN-like neural nets and their use, along with more established methods, for prediction of type 2 diabetes, and in particular for proposals for over 80 natural MDPs most of which that have not previously been described at the time of the study, as potential drug lead targets. Also, use of many medical records with simulated joining of mtDNA as performance tests led to some insightful observations regarding the behavior of HDN predictions where independent factors are involved.

