New algorithms for automated phylogenetic reconstruction using artificial intelligence and data mining techniques

Academic and industrial research in the late 90s have brought about an exponential explosion of DNA sequence data. Automated expert systems are being created to help biologists to extract patterns, trends and links from this ever-deepening ocean of information. Two such systems aimed on retrieving and subsequently utilizing phylogenetically relevant information have been developed in this dissertation, the major objective of which was to automate the often difficult and confusing phylogenetic reconstruction process. ^ Popular phylogenetic reconstruction methods, such as distance-based methods, attempt to find an optimal tree topology (that reflects the relationships among related sequences and their evolutionary history) by searching through the topology space. Various compromises between the fast (but incomplete) and exhaustive (but computationally prohibitive) search heuristics have been suggested. An intelligent compromise algorithm that relies on a flexible “beam” search principle from the Artificial Intelligence domain and uses the pre-computed local topology reliability information to adjust the beam search space continuously is described in the second chapter of this dissertation. ^ However, sometimes even a (virtually) complete distance-based method is inferior to the significantly more elaborate (and computationally expensive) maximum likelihood (ML) method. In fact, depending on the nature of the sequence data in question either method might prove to be superior. Therefore, it is difficult (even for an expert) to tell a priori which phylogenetic reconstruction method—distance-based, ML or maybe maximum parsimony (MP)—should be chosen for any particular data set. ^ A number of factors, often hidden, influence the performance of a method. For example, it is generally understood that for a phylogenetically “difficult” data set more sophisticated methods (e.g., ML) tend to be more effective and thus should be chosen. However, it is the interplay of many factors that one needs to consider in order to avoid choosing an inferior method (potentially a costly mistake, both in terms of computational expenses and in terms of reconstruction accuracy.) ^ Chapter III of this dissertation details a phylogenetic reconstruction expert system that selects a superior proper method automatically. It uses a classifier (a Decision Tree-inducing algorithm) to map a new data set to the proper phylogenetic reconstruction method. ^

Using citation data to improve retrieval from MEDLINE.

OBJECTIVE: To determine whether algorithms developed for the World Wide Web can be applied to the biomedical literature in order to identify articles that are important as well as relevant. DESIGN AND MEASUREMENTS A direct comparison of eight algorithms: simple PubMed queries, clinical queries (sensitive and specific versions), vector cosine comparison, citation count, journal impact factor, PageRank, and machine learning based on polynomial support vector machines. The objective was to prioritize important articles, defined as being included in a pre-existing bibliography of important literature in surgical oncology. RESULTS Citation-based algorithms were more effective than noncitation-based algorithms at identifying important articles. The most effective strategies were simple citation count and PageRank, which on average identified over six important articles in the first 100 results compared to 0.85 for the best noncitation-based algorithm (p < 0.001). The authors saw similar differences between citation-based and noncitation-based algorithms at 10, 20, 50, 200, 500, and 1,000 results (p < 0.001). Citation lag affects performance of PageRank more than simple citation count. However, in spite of citation lag, citation-based algorithms remain more effective than noncitation-based algorithms. CONCLUSION Algorithms that have proved successful on the World Wide Web can be applied to biomedical information retrieval. Citation-based algorithms can help identify important articles within large sets of relevant results. Further studies are needed to determine whether citation-based algorithms can effectively meet actual user information needs.

Taxonomy development and knowledge representation of nurses' personal cognitive artifacts.

Nurses prepare knowledge representations, or summaries of patient clinical data, each shift. These knowledge representations serve multiple purposes, including support of working memory, workload organization and prioritization, critical thinking, and reflection. This summary is integral to internal knowledge representations, working memory, and decision-making. Study of this nurse knowledge representation resulted in development of a taxonomy of knowledge representations necessary to nursing practice.This paper describes the methods used to elicit the knowledge representations and structures necessary for the work of clinical nurses, described the development of a taxonomy of this knowledge representation, and discusses translation of this methodology to the cognitive artifacts of other disciplines. Understanding the development and purpose of practitioner's knowledge representations provides important direction to informaticists seeking to create information technology alternatives. The outcome of this paper is to suggest a process template for transition of cognitive artifacts to an information system.

Data Accuracy in Medical Record Abstraction

Clinical Research Data Quality Literature Review and Pooled Analysis We present a literature review and secondary analysis of data accuracy in clinical research and related secondary data uses. A total of 93 papers meeting our inclusion criteria were categorized according to the data processing methods. Quantitative data accuracy information was abstracted from the articles and pooled. Our analysis demonstrates that the accuracy associated with data processing methods varies widely, with error rates ranging from 2 errors per 10,000 files to 5019 errors per 10,000 fields. Medical record abstraction was associated with the highest error rates (70–5019 errors per 10,000 fields). Data entered and processed at healthcare facilities had comparable error rates to data processed at central data processing centers. Error rates for data processed with single entry in the presence of on-screen checks were comparable to double entered data. While data processing and cleaning methods may explain a significant amount of the variability in data accuracy, additional factors not resolvable here likely exist. Defining Data Quality for Clinical Research: A Concept Analysis Despite notable previous attempts by experts to define data quality, the concept remains ambiguous and subject to the vagaries of natural language. This current lack of clarity continues to hamper research related to data quality issues. We present a formal concept analysis of data quality, which builds on and synthesizes previously published work. We further posit that discipline-level specificity may be required to achieve the desired definitional clarity. To this end, we combine work from the clinical research domain with findings from the general data quality literature to produce a discipline-specific definition and operationalization for data quality in clinical research. While the results are helpful to clinical research, the methodology of concept analysis may be useful in other fields to clarify data quality attributes and to achieve operational definitions. Medical Record Abstractor’s Perceptions of Factors Impacting the Accuracy of Abstracted Data Medical record abstraction (MRA) is known to be a significant source of data errors in secondary data uses. Factors impacting the accuracy of abstracted data are not reported consistently in the literature. Two Delphi processes were conducted with experienced medical record abstractors to assess abstractor’s perceptions about the factors. The Delphi process identified 9 factors that were not found in the literature, and differed with the literature by 5 factors in the top 25%. The Delphi results refuted seven factors reported in the literature as impacting the quality of abstracted data. The results provide insight into and indicate content validity of a significant number of the factors reported in the literature. Further, the results indicate general consistency between the perceptions of clinical research medical record abstractors and registry and quality improvement abstractors. Distributed Cognition Artifacts on Clinical Research Data Collection Forms Medical record abstraction, a primary mode of data collection in secondary data use, is associated with high error rates. Distributed cognition in medical record abstraction has not been studied as a possible explanation for abstraction errors. We employed the theory of distributed representation and representational analysis to systematically evaluate cognitive demands in medical record abstraction and the extent of external cognitive support employed in a sample of clinical research data collection forms. We show that the cognitive load required for abstraction in 61% of the sampled data elements was high, exceedingly so in 9%. Further, the data collection forms did not support external cognition for the most complex data elements. High working memory demands are a possible explanation for the association of data errors with data elements requiring abstractor interpretation, comparison, mapping or calculation. The representational analysis used here can be used to identify data elements with high cognitive demands.