ArticlePacific Symposium on Biocomputing. Pacific Symposium on Biocomputing2015
An integrative pipeline for multi-modal discovery of disease relationships.
Article in Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
17 citing papers in PubMed.
- CombinedPharmaceuticals (Basel, Switzerland) · 2022Article
- Contexts and contradictions: a roadmap for computational drug repurposing with knowledge inference.Briefings in bioinformatics · 2022Review
- StarGazer: A Hybrid Intelligence Platform for Drug Target Prioritization and Digital Drug Repositioning Using Streamlit.Frontiers in genetics · 2022Article
- Integrative analysis of loss-of-function variants in clinical and genomic data reveals novel genes associated with cardiovascular traits.BMC medical genomics · 2019Article
- Drug repurposing for antimicrobial discovery.Nature microbiology · 2019Review
- Pharmacological risk factors associated with hospital readmission rates in a psychiatric cohort identified using prescriptome data mining.BMC medical informatics and decision making · 2018Article
- Systematic analyses of drugs and disease indications in RepurposeDB reveal pharmacological, biological and epidemiological factors influencing drug repositioning.Briefings in bioinformatics · 2018Article
- A Network-Biology Informed Computational Drug Repositioning Strategy to Target Disease Risk Trajectories and Comorbidities of Peripheral Artery Disease.AMIA Joint Summits on Translational Science proceedings. AMIA Joint Summits on Translational Science · 2018Article
- Enabling Precision Cardiology Through Multiscale Biology and Systems Medicine.JACC. Basic to translational science · 2017Review
- PREDICTIVE MODELING OF HOSPITAL READMISSION RATES USING ELECTRONIC MEDICAL RECORD-WIDE MACHINE LEARNING: A CASE-STUDY USING MOUNT SINAI HEART FAILURE COHORT.Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing · 2017Article
- Comparative analyses of population-scale phenomic data in electronic medical records reveal race-specific disease networks.Bioinformatics (Oxford, England) · 2016Article
- Development and clinical application of an integrative genomic approach to personalized cancer therapy.Genome medicine · 2016Article
- In silico methods for drug repurposing and pharmacology.Wiley interdisciplinary reviews. Systems biology and medicine · 2016Review
- Constraints on Biological Mechanism from Disease Comorbidity Using Electronic Medical Records and Database of Genetic Variants.PLoS computational biology · 2016Article
- Identification of type 2 diabetes subgroups through topological analysis of patient similarity.Science translational medicine · 2015Article
- ClinLabGeneticist: a tool for clinical management of genetic variants from whole exome sequencing in clinical genetic laboratories.Genome medicine · 2015Article
- Disease-associated variants in different categories of disease located in distinct regulatory elements.BMC genomics · 2015Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
11 authors.
Funding
Abstract
In the past decade there has been an explosion in genetic research that has resulted in the generation of enormous quantities of disease-related data. In the current study, we have compiled disease risk gene variant information and Electronic Medical Record (EMR) classification codes from various repositories for 305 diseases. Using such data, we developed a pipeline to test for clinical prevalence, gene-variant overlap, and literature presence for all 46,360 unique diseases pairs. To determine whether disease pairs were enriched we systematically employed both Fishers' Exact (medical and literature) and Term Frequency-Inverse Document Frequency (genetics) methodologies to test for enrichment, defining statistical significance at a Bonferonni adjusted threshold of (p < 1 × 10(-6)) and weighted q < 0.05 accordingly. We hypothesize that disease pairs that are statistically enriched in medical and genetic spheres, but not so in the literature have the potential to reveal non-obvious connections between clinically disparate phenotypes. Using this pipeline, we identified 2,316 disease pairs that were significantly enriched within an EMR and 213 enriched genetically. Of these, 65 disease pairs were statistically enriched in both, 19 of which are believed to be novel. These identified non-obvious relationships between disease pairs are suggestive of a shared underlying etiology with clinical presentation. Further investigation of uncovered disease-pair relationships has the potential to provide insights into the architecture of complex diseases, and update existing knowledge of risk factors.
Indexed as
Identifiers
25592600PMC4345399What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.