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Translational bioinformatics in the era of real-time biomedical, health care and wellness data streams

Khader Shameer, Marcus A. Badgeley, Riccardo Miotto, Benjamin S. Glicksberg, Joseph W. Morgan, Joel T. Dudley
2016 Briefings in Bioinformatics  
and wellness data, and also perform research to develop and evaluate methods to incorporate multiscale data including genomic sequencing data and wellness science into clinical practice. data for disease  ...  We also discuss examples of translational bioinformatics approaches to integrating patient-generated data with existing EMRs, personal health records, patient portals and clinical data repositories.  ...  Funding This study was funded by the following grants from National Institutes of Health: National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK, R01-DK098242-03); National Cancer Institute  ... 
doi:10.1093/bib/bbv118 pmid:26876889 pmcid:PMC5221424 fatcat:aqurlfusq5hslpabllsfmygk6m

Clinical decision support systems for improving diagnostic accuracy and achieving precision medicine

Christian Castaneda, Kip Nalley, Ciaran Mannion, Pritish Bhattacharyya, Patrick Blake, Andrew Pecora, Andre Goy, K Stephen Suh
2015 Journal of Clinical Bioinformatics  
Ultimately, the integration of bioinformatics and clinical data in a clinical decision support system promises precision medicine and cost effective and personalized patient care.  ...  A standardized, methodological implementation must be applied to developed artificial intelligence systems with the ability to integrate data and information into clinically relevant knowledge.  ...  We also thank the Elyssa and Jack Schecter Family Fund, Leon Lowenstein Foundation and Newman's Own Foundation for supporting research at the Genomics and Biomarkers Program.  ... 
doi:10.1186/s13336-015-0019-3 pmid:25834725 pmcid:PMC4381462 fatcat:fgufkkvxf5bwdj7otmpdqgct7e

Using Electronic Health Records To Generate Phenotypes For Research

Sarah A Pendergrass, Dana C Crawford
2018 Current Protocols in Human Genetics  
We describe here common and emerging electronic phenotyping approaches applied to electronic health records, as well as current limitations of both the approaches and the biases associated with these clinically  ...  Electronic health records contain patient-level data collected during and for clinical care.  ...  The linkage and leverage of patient and population data in EHRs can also be readily accessed for research purposes.  ... 
doi:10.1002/cphg.80 pmid:30516347 pmcid:PMC6318047 fatcat:zplma65p7ne2hjx2d45wper4gy

Diagnostic Error in Medicine

2018 Diagnosis  
The VA implemented the patient-centered medical home (PCMH) model in 2010-2011 to provide patient-driven, team-based care with goals of improving healthcare outcomes.  ...  The trigger-positive count means for FOBT, IDA and AFP tests increased immediately following PCMH implementation, however the trigger-positive count means in subsequent years fluctuated between and among  ...  Rare diseases can be common in specific patient population.  ... 
doi:10.1515/dx-2018-0095 fatcat:ibte4mrczzg2tkudvkejszkhd4

Algorithm Fairness in AI for Medicine and Healthcare [article]

Richard J. Chen, Tiffany Y. Chen, Jana Lipkova, Judy J. Wang, Drew F.K. Williamson, Ming Y. Lu, Sharifa Sahai, Faisal Mahmood
2022 arXiv   pre-print
, genetic variation, intra-observer labeling variability) arise in current clinical workflows and their resulting healthcare disparities.  ...  Recent evaluation of AI models stratified across race sub-populations have revealed inequalities in how patients are diagnosed, given treatments, and billed for healthcare costs.  ...  Overall, as artificial intelligence continues to cross the precipice into clinical workflows, using both deep and handcrafted features alike, the assessment of harm using interpretability will play fundamental  ... 
arXiv:2110.00603v2 fatcat:pspb6bqqxjh45an5mhqohysswu


Magda Shaheen, Senait Teklehaimanot
2017 Journal of Clinical and Translational Science  
The use of mental health and antidepressant drug were used to indicate the service use.  ...  For the use of mental health services and/or antidepressant drug among the depressed group, 40–59 years old, AA, Hispanics, uninsured, foreign born were less likely to use mental health services and/or  ...  Patients were mostly from the Bronx; 43% of all adolescent females were overweight (22%) or obese Acknowledgements: The authors thank Susan Wilson (MPCA), Jill Lucht, and Bhawani Mishra (OSEDA).  ... 
doi:10.1017/cts.2017.287 fatcat:yp5uxjopfzhuzovziwsbbhl2au

Health—exploring complexity: an interdisciplinary systems approach HEC2016

Eva Grill, Martin Müller, Ulrich Mansmann
2016 European Journal of Epidemiology  
The PowerTrials solution integrates research processes into the workflow of Cerner's electronic health record (EHR), ensuring that clinical research and clinical care share relevant data.  ...  study within the European Prospective Investigation into Cancer and Nutrition (EPIC) Cohort.  ...  Results The experiment on real-world EMR data shows that our approach is able to find meaningful progression patterns with less noises, and can help quickly identify interesting patterns related to a certain  ... 
doi:10.1007/s10654-016-0183-1 pmid:27522353 fatcat:dcl3nbpygvh5fg7keri74h55ie

Abstracts From the 21st Annual HMO Research Network Conference, March 11–13, 2015, Long Beach, California

2015 Journal of Patient-Centered Research and Reviews  
among patients in integrated care settings and those age < 65 years.  ...  The control arm is usual care at Group Health, consisting of an organized program of patient invitation and reminders and electronic medical record (EMR)-based alerts to providers about patients who are  ...  provider coaching to support integration of LG-CC into routine care.  ... 
doi:10.17294/2330-0698.1201 fatcat:lxbvzpg3vvbhfp7lax4celo62u

Presented Abstracts from the Thirty Fifth Annual Education Conference of the National Society of Genetic Counselors (Seattle, WA, September 2016)

2016 Journal of Genetic Counseling  
Further investigation into the performance of microdeletion testing and patient perspectives should be conducted before universal integration into NIPT panels.  ...  Who are the cardiologists early to adopt integration of genetic counselors into clinical practice? Little is known about cardiologists who have integrated GCs into their practice.  ...  Usher syndrome is divided into 3 types, each associated with different genes and phenotypes.  ... 
doi:10.1007/s10897-016-0027-x pmid:27730413 fatcat:go5fglrpsjdz7cwyt6jttvm4yq

Abstracts From the 22nd Annual Health Care Systems Research Network Conference, April 13–16, 2016, Atlanta, Georgia

2016 Journal of Patient-Centered Research and Reviews  
Journal of Patient-Centered Research and Reviews ( JPCRR) is a peerreviewed scientific journal whose mission is to communicate clinical and bench research findings, with the goal of improving the quality  ...  of human health, the care of the individual patient, and the care of populations.  ...  , and 5) integrate patient preferences into the decision.  ... 
doi:10.17294/2330-0698.1413 fatcat:dvytsofskrh5bb7r2atlpyogmm

Presented Abstracts from the Thirty Third Annual Education Conference of the National Society of Genetic Counselors (New Orleans, LA, September 2014)

Emily Edelman, Beverly M. Yashar, Katie Darin
2014 Journal of Genetic Counseling  
Full Member Abstract Award Complications with reimbursement have limited the ability to integrate trained genetic service providers into the health care system.  ...  Cancer As the use of diagnostic exome sequencing (DES) becomes more commonly integrated into the field of medical genetics, referral indications for DES will continue to expand.  ...  for the future, and continued interest in clinical research.  ... 
doi:10.1007/s10897-014-9778-4 fatcat:lqx3ok2o7vadbf7k6p5ggzwq6y

Redressing Underrecognition of "Cold Drink Heart": Patients Teaching Physicians about Atrial Fibrillation Triggered by Cold Drink and Food

David Vinson
2020 The Permanente Journal  
the document, and the joy and enthusiasm they both injected into daily interactions.  ...  Lee Jae Morse, MD, and Rosanna Wustrack, MD, provided background research and analysis and participated in drafting the final manuscript.  ...  b and integration of 5-y renal replacement risk score into electronic heath records c 96 ORIGINAL RESEARCH ARTICLE A Quality Improvement Initiative Targeting Chronic Kidney Disease Metrics Through  ... 
doi:10.7812/tpp/19.238 fatcat:62vosmkefrf55f72lutiwqavyy

American Society of Pediatric Hematology/Oncology (ASPHO) 2021 Paper and Poster Abstracts

2021 Pediatric Blood & Cancer  
In cells expressing the RC fusion associated with t(8;21) AML, decreased cohesin function provides a growth advantage prior to leukemic transformation and more infiltrative and aggressive leukemic phenotype  ...  Objectives: Assess the efficacy and safety of LentiGlobin for SCD in HGB-206 Group C patients, with up to 2 years of follow up.  ...  This case highlights the importance of hypercoagulability workups when thromboembolic events occur in rare locations, as well as the need for further research into the thrombotic risk of PAI-1 polymorphisms  ... 
doi:10.1002/pbc.29060 pmid:33881204 fatcat:otfoqu4rsrazfgxfafzdnfdjpq

2020 Pediatric Endocrine Society (PES) Annual Meeting

2020 Hormone Research in Paediatrics  
As you all know, PES relies upon its active members volunteering as abstract reviewers to ensure that top-rated research is highlighted as oral, poster, and late-breaking presentations at the annual meeting  ...  The Abstracts are listed by poster number within topics, please see the table of contents and the author index for listings.  ...  Poster 172: Lifetime impact of achondroplasia on health-related quality of life (HR-QoL) and healthcare resource use: interim results from a multinational study Wayne Pan, MD PhD MBA, BioMarin Pharmaceutical  ... 
doi:10.1159/000509576 pmid:32604090 fatcat:nhpmnanojnhpxjine7ss7hcmni

2020 ASPHO Conference Paper and Poster Index

2020 Pediatric Blood & Cancer  
Results: The 5-year disease-free survival (DFS) (±SE) measured from the time of randomization for AR patients randomized to receive VCR/DEX pulse every 4 weeks vs. every 12 weeks was 94.1% ±1.0% vs. 95.1%  ...  VCR/DEX pulses every 12 weeks will thus be incorporated into frontline COG B-ALL trials thereby reducing the burden of maintenance therapy.  ...  Additionally, the regionality of this rare malignancy requires further research into potential environmental risk factors for developing EES.  ... 
doi:10.1002/pbc.28321 pmid:32343880 fatcat:wjhq5jgw5jhm7b2rabmebtzt7q
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