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CAUSAL GRAPHICAL MODELS IN SYSTEMS GENETICS: A UNIFIED FRAMEWORK FOR JOINT INFERENCE OF CAUSAL NETWORK AND GENETIC ARCHITECTURE FOR CORRELATED PHENOTYPES.

ABSTRACT: Causal inference approaches in systems genetics exploit quantitative trait loci (QTL) genotypes to infer causal relationships among phenotypes. The genetic architecture of each phenotype may be complex, and poorly estimated genetic architectures may compromise the inference of causal relationships among phenotypes. Existing methods assume QTLs are known or inferred without regard to the phenotype network structure. In this paper we develop a QTL-driven phenotype network method (QTLnet) to jointly infer a causal phenotype network and associated genetic architecture for sets of correlated phenotypes. Randomization of alleles during meiosis and the unidirectional influence of genotype on phenotype allow the inference of QTLs causal to phenotypes. Causal relationships among phenotypes can be inferred using these QTL nodes, enabling us to distinguish among phenotype networks that would otherwise be distribution equivalent. We jointly model phenotypes and QTLs using homogeneous conditional Gaussian regression models, and we derive a graphical criterion for distribution equivalence. We validate the QTLnet approach in a simulation study. Finally, we illustrate with simulated data and a real example how QTLnet can be used to infer both direct and indirect effects of QTLs and phenotypes that co-map to a genomic region.

SUBMITTER: Neto EC

PROVIDER: S-EPMC3017382 | biostudies-literature | 2010 Mar

REPOSITORIES: biostudies-literature

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CAUSAL GRAPHICAL MODELS IN SYSTEMS GENETICS: A UNIFIED FRAMEWORK FOR JOINT INFERENCE OF CAUSAL NETWORK AND GENETIC ARCHITECTURE FOR CORRELATED PHENOTYPES.

Neto Elias Chaibub EC Keller Mark P MP Attie Alan D AD Yandell Brian S BS

The annals of applied statistics 20100301 1

Causal inference approaches in systems genetics exploit quantitative trait loci (QTL) genotypes to infer causal relationships among phenotypes. The genetic architecture of each phenotype may be complex, and poorly estimated genetic architectures may compromise the inference of causal relationships among phenotypes. Existing methods assume QTLs are known or inferred without regard to the phenotype network structure. In this paper we develop a QTL-driven phenotype network method (QTLnet) to jointl ...[more]

PMID: 21218138

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Project description:Background: T ransformer-based language models have delivered clear improvements in a wide range of natural language processing (NLP) tasks. However, those models have a significant limitation; specifically, they cannot infer causality, a prerequisite for deployment in pharmacovigilance, and health care. Therefore, these transformer-based language models should be developed to infer causality to address the key question of the cause of a clinical outcome. Results: In this study, we propose an innovative causal inference model-InferBERT, by integrating the A Lite Bidirectional Encoder Representations from Transformers (ALBERT) and Judea Pearl's Do-calculus to establish potential causality in pharmacovigilance. Two FDA Adverse Event Reporting System case studies, including Analgesics-related acute liver failure and Tramadol-related mortalities, were employed to evaluate the proposed InferBERT model. The InferBERT model yielded accuracies of 0.78 and 0.95 for identifying Analgesics-related acute liver failure and Tramadol-related death cases, respectively. Meanwhile, the inferred causes of the two clinical outcomes, (i.e. acute liver failure and death) were highly consistent with clinical knowledge. Furthermore, inferred causes were organized into a causal tree using the proposed recursive do-calculus algorithm to improve the model's understanding of causality. Moreover, the high reproducibility of the proposed InferBERT model was demonstrated by a robustness assessment. Conclusion: The empirical results demonstrated that the proposed InferBERT approach is able to both predict clinical events and to infer their causes. Overall, the proposed InferBERT model is a promising approach to establish causal effects behind text-based observational data to enhance our understanding of intrinsic causality. Availability and implementation: The InferBERT model and preprocessed FAERS data sets are available on GitHub at https://github.com/XingqiaoWang/DeepCausalPV-master.

Dataset Information

CAUSAL GRAPHICAL MODELS IN SYSTEMS GENETICS: A UNIFIED FRAMEWORK FOR JOINT INFERENCE OF CAUSAL NETWORK AND GENETIC ARCHITECTURE FOR CORRELATED PHENOTYPES.

Publications

CAUSAL GRAPHICAL MODELS IN SYSTEMS GENETICS: A UNIFIED FRAMEWORK FOR JOINT INFERENCE OF CAUSAL NETWORK AND GENETIC ARCHITECTURE FOR CORRELATED PHENOTYPES.

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