Computing and Information Systems - Research Publications
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ItemLiterature consistency of bioinformatics sequence databases is effective for assessing record quality(OXFORD UNIV PRESS, 2017-03-18)UNLABELLED: Bioinformatics sequence databases such as Genbank or UniProt contain hundreds of millions of records of genomic data. These records are derived from direct submissions from individual laboratories, as well as from bulk submissions from large-scale sequencing centres; their diversity and scale means that they suffer from a range of data quality issues including errors, discrepancies, redundancies, ambiguities, incompleteness and inconsistencies with the published literature. In this work, we seek to investigate and analyze the data quality of sequence databases from the perspective of a curator, who must detect anomalous and suspicious records. Specifically, we emphasize the detection of inconsistent records with respect to the literature. Focusing on GenBank, we propose a set of 24 quality indicators, which are based on treating a record as a query into the published literature, and then use query quality predictors. We then carry out an analysis that shows that the proposed quality indicators and the quality of the records have a mutual relationship, in which one depends on the other. We propose to represent record-literature consistency as a vector of these quality indicators. By reducing the dimensionality of this representation for visualization purposes using principal component analysis, we show that records which have been reported as inconsistent with the literature fall roughly in the same area, and therefore share similar characteristics. By manually analyzing records not previously known to be erroneous that fall in the same area than records know to be inconsistent, we show that one record out of four is inconsistent with respect to the literature. This high density of inconsistent record opens the way towards the development of automatic methods for the detection of faulty records. We conclude that literature inconsistency is a meaningful strategy for identifying suspicious records. DATABASE URL: https://github.com/rbouadjenek/DQBioinformatics.
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ItemMulti-field query expansion is effective for biomedical dataset retrieval(OXFORD UNIV PRESS, 2017-09-07)In the context of the bioCADDIE challenge addressing information retrieval of biomedical datasets, we propose a method for retrieval of biomedical data sets with heterogenous schemas through query reformulation. In particular, the method proposed transforms the initial query into a multi-field query that is then enriched with terms that are likely to occur in the relevant datasets. We compare and evaluate two query expansion strategies, one based on the Rocchio method and another based on a biomedical lexicon. We then perform a comprehensive comparative evaluation of our method on the bioCADDIE dataset collection for biomedical retrieval. We demonstrate the effectiveness of our multi-field query method compared to two baselines, with MAP improved from 0.2171 and 0.2669 to 0.2996. We also show the benefits of query expansion, where the Rocchio expanstion method improves the MAP for our two baselines from 0.2171 and 0.2669 to 0.335. We show that the Rocchio query expansion method slightly outperforms the one based on the biomedical lexicon as a source of terms, with an improvement of roughly 3% for MAP. However, the query expansion method based on the biomedical lexicon is much less resource intensive since it does not require computation of any relevance feedback set or any initial execution of the query. Hence, in term of trade-off between efficiency, execution time and retrieval accuracy, we argue that the query expansion method based on the biomedical lexicon offers the best performance for a prototype biomedical data search engine intended to be used at a large scale. In the official bioCADDIE challenge results, although our approach is ranked seventh in terms of the infNDCG evaluation metric, it ranks second in term of P@10 and NDCG. Hence, the method proposed here provides overall good retrieval performance in relation to the approaches of other competitors. Consequently, the observations made in this paper should benefit the development of a Data Discovery Index prototype or the improvement of the existing one.