We review the applicability of Bayesian networks (BNs) for discovering relations between genes, environment, and disease. By translating probabilistic dependencies among variables into graphical models and vice versa, BNs provide a comprehensible and modular framework for representing complex systems. We first describe the Bayesian network approach and its applicability to understanding the genetic and environmental basis of disease. We then describe a variety of algorithms for learning the structure of a network from observational data. Because of their relevance to real-world applications, the topics of missing data and causal interpretation are emphasized. The BN approach is then exemplified through application to data from a population-based study of bladder cancer in New Hampshire, USA. For didactical purposes, we intentionally keep this example simple. When applied to complete data records, we find only minor differences in the performance and results of different algorithms. Subsequent incorporation of partial records through application of the EM algorithm gives us greater power to detect relations. Allowing for network structures that depart from a strict causal interpretation also enhances our ability to discover complex associations including gene-gene (epistasis) and gene-environment interactions. While BNs are already powerful tools for the genetic dissection of disease and generation of prognostic models, there remain some conceptual and computational challenges. These include the proper handling of continuous variables and unmeasured factors, the explicit incorporation of prior knowledge, and the evaluation and communication of the robustness of substantive conclusions to alternative assumptions and data manifestations.
Large scale Natural Language Understanding (NLU) systems are typically trained on large quantities of data, requiring a fast and scalable training strategy. A typical design for NLU systems consists of domain-level NLU modules (domain classifier, intent classifier and named entity recognizer). Hypotheses (NLU interpretations consisting of various intent+slot combinations) from these domain specific modules are typically aggregated with another downstream component. The re-ranker integrates outputs from domain-level recognizers, returning a scored list of cross domain hypotheses. An ideal reranker will exhibit the following two properties: (a) it should prefer the most relevant hypothesis for the given input as the top hypothesis and, (b) the interpretation scores corresponding to each hypothesis produced by the re-ranker should be calibrated. Calibration allows the final NLU interpretation score to be comparable across domains. We propose a novel re-ranker strategy that addresses these aspects, while also maintaining domain specific modularity. We design optimization loss functions for such a modularized re-ranker and present results on decreasing the top hypothesis error rate as well as maintaining the model calibration. We also experiment with an extension involving training the domain specific re-rankers on datasets curated independently by each domain to allow further asynchronization.
Current spoken language understanding systems heavily rely on the best hypothesis (ASR 1-best) generated by automatic speech recognition, which is used as the input for downstream models such as natural language understanding (NLU) modules. However, the potential errors and misrecognition in ASR 1-best raise challenges to NLU. It is usually difficult for NLU models to recover from ASR errors without additional signals, which leads to suboptimal SLU performance. This paper proposes a fusion network to jointly consider ASR n-best hypotheses for enhanced robustness to ASR errors. Our experiments on Alexa data show that our model achieved 21.71% error reduction compared to baseline trained on transcription for domain classification.
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