Evaluating global and local sequence alignment methods for comparing patient medical records

Background Sequence alignment is a way of arranging sequences (e.g., DNA, RNA, protein, natural language, financial data, or medical events) to identify the relatedness between two or more sequences and regions of similarity. For Electronic Health Records (EHR) data, sequence alignment helps to identify patients of similar disease trajectory for more relevant and precise prognosis, diagnosis and treatment of patients. Methods We tested two cutting-edge global sequence alignment methods, namely dynamic time warping (DTW) and Needleman-Wunsch algorithm (NWA), together with their local modifications, DTW for Local alignment (DTWL) and Smith-Waterman algorithm (SWA), for aligning patient medical records. We also used 4 sets of synthetic patient medical records generated from a large real-world EHR database as gold standard data, to objectively evaluate these sequence alignment algorithms. Results For global sequence alignments, 47 out of 80 DTW alignments and 11 out of 80 NWA alignments had superior similarity scores than reference alignments while the rest 33 DTW alignments and 69 NWA alignments had the same similarity scores as reference alignments. Forty-six out of 80 DTW alignments had better similarity scores than NWA alignments with the rest 34 cases having the equal similarity scores from both algorithms. For local sequence alignments, 70 out of 80 DTWL alignments and 68 out of 80 SWA alignments had larger coverage and higher similarity scores than reference alignments while the rest DTWL alignments and SWA alignments received the same coverage and similarity scores as reference alignments. Six out of 80 DTWL alignments showed larger coverage and higher similarity scores than SWA alignments. Thirty DTWL alignments had the equal coverage but better similarity scores than SWA. DTWL and SWA received the equal coverage and similarity scores for the rest 44 cases. Conclusions DTW, NWA, DTWL and SWA outperformed the reference alignments. DTW (or DTWL) seems to align better than NWA (or SWA) by inserting new daily events and identifying more similarities between patient medical records. The evaluation results could provide valuable information on the strengths and weakness of these sequence alignment methods for future development of sequence alignment methods and patient similarity-based studies.

[1]  Louis J. Gross Algorithms in Bioinformatics: A Practical Introduction , 2009 .

[2]  Riccardo Bellazzi,et al.  Patient similarity for precision medicine: A systematic review , 2018, J. Biomed. Informatics.

[3]  Yue Zhang,et al.  Mapping client messages to a unified data model with mixture feature embedding convolutional neural network , 2017, 2017 IEEE International Conference on Bioinformatics and Biomedicine (BIBM).

[4]  Claudia Pagliari,et al.  Potential of electronic personal health records , 2007, BMJ : British Medical Journal.

[5]  Hilde van der Togt,et al.  Publisher's Note , 2003, J. Netw. Comput. Appl..

[6]  Joon Lee,et al.  Personalized Mortality Prediction Driven by Electronic Medical Data and a Patient Similarity Metric , 2015, PloS one.

[7]  Maryam Zolnoori,et al.  Temporal sequence alignment in electronic health records for computable patient representation , 2018, 2018 IEEE International Conference on Bioinformatics and Biomedicine (BIBM).

[8]  N. Cox,et al.  Evaluating phecodes, clinical classification software, and ICD-9-CM codes for phenome-wide association studies in the electronic health record , 2017, PloS one.

[9]  Fei Wang,et al.  Medical prognosis based on patient similarity and expert feedback , 2012, Proceedings of the 21st International Conference on Pattern Recognition (ICPR2012).

[10]  M S Waterman,et al.  Identification of common molecular subsequences. , 1981, Journal of molecular biology.

[11]  James A. Evans,et al.  Health ROI as a measure of misalignment of biomedical needs and resources , 2015, Nature Biotechnology.

[12]  Scott M. Brue,et al.  Data resource profile: the Rochester Epidemiology Project (REP) medical records-linkage system. , 2012, International journal of epidemiology.

[13]  Meinard Müller,et al.  Information retrieval for music and motion , 2007 .

[14]  Chao Xie,et al.  Fast and sensitive protein alignment using DIAMOND , 2014, Nature Methods.

[15]  Fei Wang,et al.  An RNN Architecture with Dynamic Temporal Matching for Personalized Predictions of Parkinson's Disease , 2017, SDM.

[16]  Yu Tian,et al.  An Electronic Medical Record System with Treatment Recommendations Based on Patient Similarity , 2015, Journal of Medical Systems.

[17]  K. Kupka,et al.  International classification of diseases: ninth revision. , 1978, WHO chronicle.

[18]  Maryam Zolnoori,et al.  Public Opinions Toward Diseases: Infodemiological Study on News Media Data , 2018, Journal of medical Internet research.

[19]  Anis Sharafoddini,et al.  Patient Similarity in Prediction Models Based on Health Data: A Scoping Review , 2017, JMIR medical informatics.

[20]  Scott M. Brue,et al.  Data Resource Profile: Expansion of the Rochester Epidemiology Project medical records-linkage system (E-REP). , 2018, International journal of epidemiology.

[21]  Dingcheng Li,et al.  MfeCNN: Mixture Feature Embedding Convolutional Neural Network for Data Mapping , 2018, IEEE Transactions on NanoBioscience.

[22]  Ke Chen,et al.  Pairwise alignment for very long nucleic acid sequences. , 2018, Biochemical and biophysical research communications.

[23]  Christus,et al.  A General Method Applicable to the Search for Similarities in the Amino Acid Sequence of Two Proteins , 2022 .

[24]  Maryam Zolnoori,et al.  Technological Innovations in Disease Management: Text Mining US Patent Data From 1995 to 2017 , 2019, Journal of medical Internet research.

[25]  Ferran Sanz,et al.  Identifying temporal patterns in patient disease trajectories using dynamic time warping: A population-based study , 2018, Scientific Reports.

[26]  Wing-Kin Sung Algorithms in Bioinformatics: A Practical Introduction , 2020 .

[27]  Sherry‐Ann Brown Patient Similarity: Emerging Concepts in Systems and Precision Medicine , 2016, Front. Physiol..

[28]  B. Yawn,et al.  American Journal of Epidemiology Practice of Epidemiology Use of a Medical Records Linkage System to Enumerate a Dynamic Population over Time: the Rochester Epidemiology Project , 2022 .