Explainable Genetic Inheritance Pattern Prediction
Diagnosing an inherited disease often requires identifying the pattern of inheritance in a patient's family. We represent family trees with genetic patterns of inheritance using hypergraphs and latent state space models to provide explainable inheritance pattern predictions. Our approach allows for exact causal inference over a patient's possible genotypes given their relatives' phenotypes. By design, inference can be examined at a low level to provide explainable predictions. Furthermore, we make use of human intuition by providing a method to assign hypothetical evidence to any inherited gene alleles. Our analysis supports the application of latent state space models to improve patient care in cases of rare inherited diseases where access to genetic specialists is limited.
Code (0)
등록된 구현이 없습니다.
Tasks
Causal InferencePredictionState Space ModelsMethods 이 논문이 사용한 방법론
Similar Papers 제목 키워드 기반
Proteome-wide prediction of mode of inheritance and molecular mechanism underlying genetic diseases using structural interactomics
Genetic diseases can be classified according to their modes of inheritance and their underlying molecular mechanisms. Autosomal dominant disorders often result from DNA variants that cause loss-of-function, gain-of-funct…
Organismal Agency and Rapid Adaptation: The Phenopoiesis Algorithm for Phenotype-First Evolution
Evolutionary success depends on the capacity to adapt: organisms must respond to environmental challenges through both genetic innovation and lifetime learning. The gene-centric paradigm attributes evolutionary causality…
The Effect of Epigenetic Blocking on Dynamic Multi-Objective Optimisation Problems
Hundreds of Evolutionary Computation approaches have been reported. From an evolutionary perspective they focus on two fundamental mechanisms: cultural inheritance in Swarm Intelligence and genetic inheritance in Evoluti…
BlockingEvolutionary AlgorithmsEpigenetic opportunities for Evolutionary Computation
Evolutionary Computation is a group of biologically inspired algorithms used to solve complex optimisation problems. It can be split into Evolutionary Algorithms, which take inspiration from genetic inheritance, and Swar…
Evolutionary AlgorithmsReanalyzing variable directionality of gene expression in transgenerational epigenetic inheritance
A previous report claimed no evidence of transgenerational epigenetic inheritance in a mouse model of in utero environmental exposure, based on the observation that gene expression changes observed in the germ cells of G…