Literature DB >> 25336590

Seeing the forest through the trees: uncovering phenomic complexity through interactive network visualization.

Jeremy L Warner1, Joshua C Denny2, David A Kreda3, Gil Alterovitz4.   

Abstract

Our aim was to uncover unrecognized phenomic relationships using force-based network visualization methods, based on observed electronic medical record data. A primary phenotype was defined from actual patient profiles in the Multiparameter Intelligent Monitoring in Intensive Care II database. Network visualizations depicting primary relationships were compared to those incorporating secondary adjacencies. Interactivity was enabled through a phenotype visualization software concept: the Phenomics Advisor. Subendocardial infarction with cardiac arrest was demonstrated as a sample phenotype; there were 332 primarily adjacent diagnoses, with 5423 relationships. Primary network visualization suggested a treatment-related complication phenotype and several rare diagnoses; re-clustering by secondary relationships revealed an emergent cluster of smokers with the metabolic syndrome. Network visualization reveals phenotypic patterns that may have remained occult in pairwise correlation analysis. Visualization of complex data, potentially offered as point-of-care tools on mobile devices, may allow clinicians and researchers to quickly generate hypotheses and gain deeper understanding of patient subpopulations.
© The Author 2014. Published by Oxford University Press on behalf of the American Medical Informatics Association. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

Entities:  

Keywords:  Data display; Data mining; Decision making; computer-assisted; Medical informatics applications; Phenotype

Mesh:

Year:  2014        PMID: 25336590      PMCID: PMC6080728          DOI: 10.1136/amiajnl-2014-002965

Source DB:  PubMed          Journal:  J Am Med Inform Assoc        ISSN: 1067-5027            Impact factor:   4.497


  27 in total

1.  R PheWAS: data analysis and plotting tools for phenome-wide association studies in the R environment.

Authors:  Robert J Carroll; Lisa Bastarache; Joshua C Denny
Journal:  Bioinformatics       Date:  2014-04-14       Impact factor: 6.937

2.  The metabolic syndrome: prevalence and associated risk factor findings in the US population from the Third National Health and Nutrition Examination Survey, 1988-1994.

Authors:  Yong-Woo Park; Shankuan Zhu; Latha Palaniappan; Stanley Heshka; Mercedes R Carnethon; Steven B Heymsfield
Journal:  Arch Intern Med       Date:  2003-02-24

3.  Myocardial infarction with Moyamoya disease and pituitary gigantism in a young female patient.

Authors:  Y K Ahn; M H Jeong; H S Bom; J C Park; J K Kim; D J Chung; M Y Chung; J G Cho; J C Kang
Journal:  Jpn Circ J       Date:  1999-08

4.  The clinical course, early prognosis and coronary anatomy of subendocardial infarction.

Authors:  N P Madigan; B D Rutherford; R L Frye
Journal:  Am J Med       Date:  1976-05-10       Impact factor: 4.965

5.  PheWAS: demonstrating the feasibility of a phenome-wide scan to discover gene-disease associations.

Authors:  Joshua C Denny; Marylyn D Ritchie; Melissa A Basford; Jill M Pulley; Lisa Bastarache; Kristin Brown-Gentry; Deede Wang; Dan R Masys; Dan M Roden; Dana C Crawford
Journal:  Bioinformatics       Date:  2010-03-24       Impact factor: 6.937

6.  Systematic comparison of phenome-wide association study of electronic medical record data and genome-wide association study data.

Authors:  Joshua C Denny; Lisa Bastarache; Marylyn D Ritchie; Robert J Carroll; Raquel Zink; Jonathan D Mosley; Julie R Field; Jill M Pulley; Andrea H Ramirez; Erica Bowton; Melissa A Basford; David S Carrell; Peggy L Peissig; Abel N Kho; Jennifer A Pacheco; Luke V Rasmussen; David R Crosslin; Paul K Crane; Jyotishman Pathak; Suzette J Bielinski; Sarah A Pendergrass; Hua Xu; Lucia A Hindorff; Rongling Li; Teri A Manolio; Christopher G Chute; Rex L Chisholm; Eric B Larson; Gail P Jarvik; Murray H Brilliant; Catherine A McCarty; Iftikhar J Kullo; Jonathan L Haines; Dana C Crawford; Daniel R Masys; Dan M Roden
Journal:  Nat Biotechnol       Date:  2013-12       Impact factor: 54.908

7.  The SMART Platform: early experience enabling substitutable applications for electronic health records.

Authors:  Kenneth D Mandl; Joshua C Mandel; Shawn N Murphy; Elmer Victor Bernstam; Rachel L Ramoni; David A Kreda; J Michael McCoy; Ben Adida; Isaac S Kohane
Journal:  J Am Med Inform Assoc       Date:  2012-03-17       Impact factor: 4.497

8.  Visually integrating and exploring high throughput Phenome-Wide Association Study (PheWAS) results using PheWAS-View.

Authors:  Sarah A Pendergrass; Scott M Dudek; Dana C Crawford; Marylyn D Ritchie
Journal:  BioData Min       Date:  2012-06-08       Impact factor: 2.522

9.  Next-generation phenotyping of electronic health records.

Authors:  George Hripcsak; David J Albers
Journal:  J Am Med Inform Assoc       Date:  2012-09-06       Impact factor: 4.497

Review 10.  The challenges, advantages and future of phenome-wide association studies.

Authors:  Scott J Hebbring
Journal:  Immunology       Date:  2014-02       Impact factor: 7.397

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  11 in total

Review 1.  Unravelling the human genome-phenome relationship using phenome-wide association studies.

Authors:  William S Bush; Matthew T Oetjens; Dana C Crawford
Journal:  Nat Rev Genet       Date:  2016-02-15       Impact factor: 53.242

2.  New Problems - New Solutions: A Never Ending Story. Findings from the Clinical Information Systems Perspective for 2015.

Authors:  W O Hackl; T Ganslandt
Journal:  Yearb Med Inform       Date:  2016-11-10

Review 3.  Progress in Biomedical Knowledge Discovery: A 25-year Retrospective.

Authors:  L Sacchi; J H Holmes
Journal:  Yearb Med Inform       Date:  2016-08-02

Review 4.  Biomedical informatics advancing the national health agenda: the AMIA 2015 year-in-review in clinical and consumer informatics.

Authors:  Kirk Roberts; Mary Regina Boland; Lisiane Pruinelli; Jina Dcruz; Andrew Berry; Mattias Georgsson; Rebecca Hazen; Raymond F Sarmiento; Uba Backonja; Kun-Hsing Yu; Yun Jiang; Patricia Flatley Brennan
Journal:  J Am Med Inform Assoc       Date:  2017-04-01       Impact factor: 4.497

5.  Clinical Informatics Researcher's Desiderata for the Data Content of the Next Generation Electronic Health Record.

Authors:  Timothy I Kennell; James H Willig; James J Cimino
Journal:  Appl Clin Inform       Date:  2017-12-21       Impact factor: 2.342

Review 6.  Preparing next-generation scientists for biomedical big data: artificial intelligence approaches.

Authors:  Jason H Moore; Mary Regina Boland; Pablo G Camara; Hannah Chervitz; Graciela Gonzalez; Blanca E Himes; Dokyoon Kim; Danielle L Mowery; Marylyn D Ritchie; Li Shen; Ryan J Urbanowicz; John H Holmes
Journal:  Per Med       Date:  2019-02-14       Impact factor: 2.512

7.  Evaluating phecodes, clinical classification software, and ICD-9-CM codes for phenome-wide association studies in the electronic health record.

Authors:  Wei-Qi Wei; Lisa A Bastarache; Robert J Carroll; Joy E Marlo; Travis J Osterman; Eric R Gamazon; Nancy J Cox; Dan M Roden; Joshua C Denny
Journal:  PLoS One       Date:  2017-07-07       Impact factor: 3.240

8.  Sensitivity of comorbidity network analysis.

Authors:  Jason Cory Brunson; Thomas P Agresta; Reinhard C Laubenbacher
Journal:  JAMIA Open       Date:  2019-12-31

9.  Using topic modeling via non-negative matrix factorization to identify relationships between genetic variants and disease phenotypes: A case study of Lipoprotein(a) (LPA).

Authors:  Juan Zhao; QiPing Feng; Patrick Wu; Jeremy L Warner; Joshua C Denny; Wei-Qi Wei
Journal:  PLoS One       Date:  2019-02-13       Impact factor: 3.240

10.  Recommendations for patient similarity classes: results of the AMIA 2019 workshop on defining patient similarity.

Authors:  Nathan D Seligson; Jeremy L Warner; William S Dalton; David Martin; Robert S Miller; Debra Patt; Kenneth L Kehl; Matvey B Palchuk; Gil Alterovitz; Laura K Wiley; Ming Huang; Feichen Shen; Yanshan Wang; Khoa A Nguyen; Anthony F Wong; Funda Meric-Bernstam; Elmer V Bernstam; James L Chen
Journal:  J Am Med Inform Assoc       Date:  2020-11-01       Impact factor: 4.497

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