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Health Information Technology Commons

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2016

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Articles 91 - 119 of 119

Full-Text Articles in Health Information Technology

Opportunities And Challenges In The Use Of Personal Health Data For Health Research, Matthew J. Bietz, Cinnamon S. Bloss, Scout Calvert, Job G. Godino, Judith Gregory, Michael P. Claffey, Jerry Sheehan, Kevin Patrick Jan 2016

Opportunities And Challenges In The Use Of Personal Health Data For Health Research, Matthew J. Bietz, Cinnamon S. Bloss, Scout Calvert, Job G. Godino, Judith Gregory, Michael P. Claffey, Jerry Sheehan, Kevin Patrick

University of Nebraska-Lincoln Libraries: Faculty Publications

Objective: Understand barriers to the use of personal health data (PHD) in research from the perspective of three stakeholder groups: early adopter individuals who track data about their health, researchers who may use PHD as part of their research, and companies that market self-tracking devices, apps or services, and aggregate and manage the data that are generated.

Materials and Methods: A targeted convenience sample of 465 individuals and 134 researchers completed an extensive online survey. Thirty-five hourlong semi-structured qualitative interviews were conducted with a subset of 11 individuals and 9 researchers, as well as 15 company/key informants.

Results: Challenges to …


The Qualitative And Quantitative Effects Of Patient Centered Medical Home In The Veterans Health Administration, Samuel N. Lovejoy, Eric Stalnaker, William K. Willis, Alberto Coustasse Jan 2016

The Qualitative And Quantitative Effects Of Patient Centered Medical Home In The Veterans Health Administration, Samuel N. Lovejoy, Eric Stalnaker, William K. Willis, Alberto Coustasse

Management Faculty Research

Since the 1990’s, the Veteran’s Health Administration (VHA) has implemented a system of primary care that has been considered some of the best care that can be offered (Klein, 2011). The Patient Center Medical Home (PCMH) Model, also called “Patient Aligned Care Team” (PACT) in the VHA, has been coordinating and integrating services which ensure optimal health outcomes at an acceptable value (Bidassie, Davies, Stark, & Boushon, 2014).

PACT was created in 2010, building on 20 years of the VHA transforming from a loosely based system of inpatient services to a provider of outpatient primary care for veterans. From 2010 …


Big Data Management In United States Hospitals: Benefits And Barriers, Chad Schaeffer, Ariful Haque, Lawrence Booton, Jamey Halleck, Alberto Coustasse Jan 2016

Big Data Management In United States Hospitals: Benefits And Barriers, Chad Schaeffer, Ariful Haque, Lawrence Booton, Jamey Halleck, Alberto Coustasse

Management Faculty Research

Big Data has been considered as an effective tool to reduce healthcare costs by eliminating adverse events and reducing readmissions in hospitals. The purpose of this study was to examine the emergence of Big Data in the United Sates healthcare industry, to evaluate hospital’s ability to effectively make use of complex information, and to predict the potential benefits hospitals might realize if they are successful. The findings of the research suggest that there were a number of benefits expected by hospitals when using Big Data analytics, including cost savings and business intelligence. In addition, hospitals have recognized that there have …


Linking Emr To Virtual Care Of Psychiatric Patients In The Acute Care Setting, Howard Louis Beatty Jr. Jan 2016

Linking Emr To Virtual Care Of Psychiatric Patients In The Acute Care Setting, Howard Louis Beatty Jr.

MUSC Theses and Dissertations

The purpose of this study is to test if the implementation of the Tele-Psychiatric Consultation Process (built within the FirstNet (Cerner/EMR) application, which pulls the patient’s current EMR encounter from multiple facility locations to a different physical facility location for consultation) provided increased quality by decreasing in total length of stay. The coordination of virtual care consultations allows for inter-practice data exchange for multi-provider clinical decision support. Documentation of medications and treatment regimens, which may be unfamiliar to the acute care provider, are provided through virtual tele-psychiatric consultations. An eTracking queue within FirstNet was built in-house by Carolinas Healthcare System …


Moving Forward With Family Centered-Care: One Step At A Time, Adrianne Dunbar Jan 2016

Moving Forward With Family Centered-Care: One Step At A Time, Adrianne Dunbar

UReCA: The NCHC Journal of Undergraduate Research and Creative Activity

Family-centered care is an evolving process between patients, families, and health care providers. The family centered care model emphasizes the strength families bring to the healing process. The research project was a quasi-experimental pre-and post-test study with a communication intervention phase. The study was conducted in a Surgical-Trauma Intensive Care Unit (STICU) in a university affiliated hospital in the Southeast with restricted visitation hours. The purpose of this IRB-approved study was to measure the nurses’ perceptions of communication involvement with family members before and after the intervention phase. Approximately 50% of eligible participants responded. The communication intervention phase consisted of …


Impact Of Electronic Health Records On Patient Outcomes, Lilian Ndifon, Jude E. Edwards, Leila Halawi Jan 2016

Impact Of Electronic Health Records On Patient Outcomes, Lilian Ndifon, Jude E. Edwards, Leila Halawi

Publications

With the passing of the HITECH Act, EHRs have come into prominence and sharper focus, due to efforts by the government to push for a national adoption of EHRs into our healthcare system. This push for a national adoption of EHRs is based on the premise that it will help improve the quality delivery of health care services and reduce costs. However, this push for a “national adoption” has experienced mixed results. This study was designed to assess the impact of EHRs post-2009, the year of the HITECH Act, to review some of the key contributing factors to this mixed …


The Integration Of Mobile Technology To Lower The Risk Of Developing Cervical Cancer In Hiv Positive Women, Tugce Kinik Jan 2016

The Integration Of Mobile Technology To Lower The Risk Of Developing Cervical Cancer In Hiv Positive Women, Tugce Kinik

Dissertations, Master's Theses and Master's Reports

Cervical cancer is the most common cancer in HIV positive women in the world [1]. According to epidemiologists, HPV infection alone will not initiate cervical cancer [2]. In addition to high risk HPV types, smoking, long term hormonal contraceptive use, high parity, HIV/AIDS infection, sexual activity before 20 years of age, multiple sexual partners, exposure to sexually transmitted disease, and family history of cervical cancer are other reasons to turn an HPV infection to the cervical cancer [3]. With the increasing global population, cervical cancer cases are expected to increase 46% until 2030 [4]. Effective prevention and control efforts will …


Detecting, Segmenting And Tracking Bio-Medical Objects, Mingzhong Li Jan 2016

Detecting, Segmenting And Tracking Bio-Medical Objects, Mingzhong Li

Doctoral Dissertations

"Studying the behavior patterns of biomedical objects helps scientists understand the underlying mechanisms. With computer vision techniques, automated monitoring can be implemented for efficient and effective analysis in biomedical studies. Promising applications have been carried out in various research topics, including insect group monitoring, malignant cell detection and segmentation, human organ segmentation and nano-particle tracking.

In general, applications of computer vision techniques in monitoring biomedical objects include the following stages: detection, segmentation and tracking. Challenges in each stage will potentially lead to unsatisfactory results of automated monitoring. These challenges include different foreground-background contrast, fast motion blur, clutter, object overlap and …


The Impact Of Information Technology On Patient Engagement And Health Behavior Change: A Systematic Review Of The Literature, Suhila Sawesi, Mohamed Rashrash, Kanitha Phalakornkule, Janet S. Carpenter, Josette F. Jones Jan 2016

The Impact Of Information Technology On Patient Engagement And Health Behavior Change: A Systematic Review Of The Literature, Suhila Sawesi, Mohamed Rashrash, Kanitha Phalakornkule, Janet S. Carpenter, Josette F. Jones

Pharmacy Faculty Articles and Research

Background: Advancements in information technology (IT) and its increasingly ubiquitous nature expand the ability to engage patients in the health care process and motivate health behavior change.

Objective: Our aim was to systematically review the (1) impact of IT platforms used to promote patients’ engagement and to effect change in health behaviors and health outcomes, (2) behavior theories or models applied as bases for developing these interventions and their impact on health outcomes, (3) different ways of measuring health outcomes, (4) usability, feasibility, and acceptability of these technologies among patients, and (5) challenges and research directions for implementing …


An Empirical Investigation Of Privacy And Security Concerns On Doctors’ And Nurses’ Behavioral Intentions To Use Rfid In Hospitals, Thomas George Winston Jan 2016

An Empirical Investigation Of Privacy And Security Concerns On Doctors’ And Nurses’ Behavioral Intentions To Use Rfid In Hospitals, Thomas George Winston

CCAC Theses and Dissertations

Radio frequency identification (RFID) technology is a useful technology that has myriad applications in technology, retail, manufacturing, and healthcare settings. Not dependent upon line-of-sight, RFID can scan devices in their proximity and report the information to connected (wired or other wireless) information systems. Once touted as the panacea for home healthcare, RFID devices can add benefit to patients in remote settings. RFID devices have been used to optimize systems in areas such as manufacturing and healthcare to expose inefficiencies in a system or process. Unlike manufacturing, however, RFID in healthcare settings presents security and privacy concerns to the people being …


Electronic Medical Records (Emr): An Empirical Testing Of Factors Contributing To Healthcare Professionals’ Resistance To Use Emr Systems, Emmanuel Patrick Bazile Jan 2016

Electronic Medical Records (Emr): An Empirical Testing Of Factors Contributing To Healthcare Professionals’ Resistance To Use Emr Systems, Emmanuel Patrick Bazile

CCAC Theses and Dissertations

The benefits of using electronic medical records (EMRs) have been well documented; however, despite numerous financial benefits and cost reductions being offered by the federal government, some healthcare professionals have been reluctant to implement EMR systems. In fact, prior research provides evidence of failed EMR implementations due to resistance on the part of physicians, nurses, and clinical administrators. In 2010, only 25% of office-based physicians have basic EMR systems and only 10% have fully functional systems. One of the hindrances believed to be responsible for the slow implementation rates of EMR systems is resistance from healthcare professionals not truly convinced …


Patient Portals: Achieving Technology Acceptance And Meaningful Use In Independent Physician-Managed Practices, Kimberly W. Bartholomew Jan 2016

Patient Portals: Achieving Technology Acceptance And Meaningful Use In Independent Physician-Managed Practices, Kimberly W. Bartholomew

CCAC Theses and Dissertations

As the bulk of medical health records shift from paper-based file systems to electronic formats, the promise of the transformation process called healthcare reform included adding efficiencies to medical practice workflows, lower costs, improved quality of care and most important, and the freeing of patient information from traditional propriety silos. With this incoming largess of protected health information data now viewable through online patient portals, patients can be empowered to become educated and active in their own health care decisions, but only if they have admission to their information. A digital divide currently exists in many medical practices where only …


Information Governance: An Investigation Of Interface Errors Between Source And Receiving Systems, Michelle R. Mitcheff Jan 2016

Information Governance: An Investigation Of Interface Errors Between Source And Receiving Systems, Michelle R. Mitcheff

Applied Research Projects

The monitoring of interoperability of information in healthcare organizations is of increasing interest due to patient safety, operational and financial considerations. This monitoring is referred to as information governance (IG) and is a complex topic based on several underlying concepts. Interfacing information at the foundational, structural and semantic level is necessary for meaningful use of health information. Issues that arise range from incongruent transfer of information from source systems to receiving systems, discrepancies in the source system and receiving system and failures in interfacing information. This research project examines information governance from the perspective of failures in interfacing information from …


Clinical Educator And Student Perceptions Of Ipad™ Technology To Enhance Clinical Supervision: The Electronically-Facilitated Feedback Initiative (Effi), Suzanne J. Snodgrass, Darren Rivett, Scott Farrell, Kyle Ball, Samantha E. Ashby, Catherine L. Johnston, Kim Nguyen, Trevor Russell Jan 2016

Clinical Educator And Student Perceptions Of Ipad™ Technology To Enhance Clinical Supervision: The Electronically-Facilitated Feedback Initiative (Effi), Suzanne J. Snodgrass, Darren Rivett, Scott Farrell, Kyle Ball, Samantha E. Ashby, Catherine L. Johnston, Kim Nguyen, Trevor Russell

Internet Journal of Allied Health Sciences and Practice

Purpose: Growing demands placed upon healthcare systems require more health professionals to be trained. Clinical placement education is an integral component of health professional training, however accommodating increasing numbers of student placements is a challenge for health services. Personal digital assistants such as iPads™ may assist in delivery of clinical education, by facilitating transfer of knowledge and skills from clinical educators to health professional students, however such an initiative has not been formally investigated. The present study sought to explore perceptions of clinical educators and allied health students regarding the impact of an iPad™-based feedback delivery system on student …


Electronic Health Records In The Academic World, Madeline Leapaldt Jan 2016

Electronic Health Records In The Academic World, Madeline Leapaldt

Williams Honors College, Honors Research Projects

Health or medical records are the backbone of the healthcare industry. They allow professions to practice patient-centered, interdisciplinary care. Electronic Health Records help accelerate the care process and allow for a smoother patient experience. However, many healthcare professionals have not used an Electronic Health Record prior to employment or internships. This can be detrimental to the process and slow down the entire team. Research shows that teaching Electronic Health Records in an academic setting allows students to safely explore the system and become comfortable with using technology for healthcare purposes. There are specific requirements that have been shown to aid …


Assessing Payer Perspectives On Health Information Exchange, Dori Cross, Sunny C. Lin, Julia Adler-Milstein Jan 2016

Assessing Payer Perspectives On Health Information Exchange, Dori Cross, Sunny C. Lin, Julia Adler-Milstein

OHSU-PSU School of Public Health Faculty Publications and Presentations

Objective To identify factors that impede payer engagement in a health information exchange (HIE), along with organizational and policy strategies that might effectively address the impediments.

Materials and Methods Qualitative analysis of semi-structured interviews with leaders from 17 varied payer organizations from across the country (e.g., large, national payers; state Blues plans; local Medicaid managed care plans).

Results We found a large gap between payers’ vision of what optimal HIE should be and the current approach to HIE in the United States. Notably, payers sought to be active participants in HIE efforts – both providing claims data and accessing clinical …


Towards An Infodemiological Algorithm For Classification Of Filipino Health Tweets, Ma. Regina Justina E. Estuar, Kennedy E. Espina, Delfin Jay Sabido Ix, Raymond Josef Edward Lara, Vikki Car De Los Reyes Jan 2016

Towards An Infodemiological Algorithm For Classification Of Filipino Health Tweets, Ma. Regina Justina E. Estuar, Kennedy E. Espina, Delfin Jay Sabido Ix, Raymond Josef Edward Lara, Vikki Car De Los Reyes

Department of Information Systems & Computer Science Faculty Publications

Finding innovative ICT solutions to enhance the Philippines’ health sector is part and parcel of the Philippine eHealth Strategic Framework and Plan 2020 program. This study sees the opportunity of using collected Twitter data to create a model that processes tweets to produce a dataset that may be relevant in the field of epidemiology and infodemiology. Through the collection of relevant tweets, future studies may make use of the output of this research for various purposes, such as the improvement of epidemiological systems of the Department of Health in support of the eHealth strategy. In this study, we …


Use Of High-Fidelity Simulation Training For New Cardiothoracic Intensive Care Unit Nurses, Bryan Boling Jan 2016

Use Of High-Fidelity Simulation Training For New Cardiothoracic Intensive Care Unit Nurses, Bryan Boling

DNP Projects

Critical care nursing is one of the most challenging, high-stress fields in healthcare. This is especially true for nurses in the highly specialized environment of the cardiothoracic intensive care unit (CTICU). The experience level of nurses in critical care is positively linked with patient outcomes; however, with older nurses retiring or moving away from the bedside and younger nurses increasingly moving into advanced practice or management and leadership roles it is becoming more difficult to maintain a high degree of nursing experience in the ICU. Simulation training has been used to provide safe, effective training, and it is even possible …


Text Messaging Appointment Reminders To Reduce No-Shows: A Pilot Study, Cameron M. Stephenson Jan 2016

Text Messaging Appointment Reminders To Reduce No-Shows: A Pilot Study, Cameron M. Stephenson

DNP Projects

Background: Hospital and outpatient clinic no-show, did not cancel or did not attend rates are a serious problem to organizations across the United States health care system. No-show appointments reduce clinic productivity, wastes clinician time and clinic resources and can be detrimental financially. Bluegrass Pediatrics and Internal Medicine (BPIM) located in Georgetown, KY experiences these problems on a daily basis.

Purpose/Methodology. This quality improvement project consisted of evaluating the effects of text messaging on appointment attendance during 3 clinic weeks of February 2016. The sample was derived from all patients enrolled at BPIM with a scheduled well, established or routine …


The Smart Heart Self-Care First Pilot Program, Samantha Mancuso Jan 2016

The Smart Heart Self-Care First Pilot Program, Samantha Mancuso

DNP Projects

Purpose: The Smart Heart Self-Care First Pilot Program (SHSCF) offers a transitional care intervention focusing on the self-care of hospitalized heart failure patients who are discharged home. It utilizes assessment, communication and education components to encourage behavior modification (improved self-care) through telehealth methodology.

Background and Significance: Heart failure related admissions, as a primary or secondary diagnosis, are among the leading causes of hospitalizations in the United States (Emory Healthcare, 2016). Surprisingly, of those patients discharged with a primary diagnosis of heart failure, 20% are readmitted to the hospital within thirty days (Feltner et. al, 2014). Heart failure related re-hospitalizations highlight …


Meaningful Use: Secure Electronic Messaging And The Use Of Mychart, Dava O. Helton Jan 2016

Meaningful Use: Secure Electronic Messaging And The Use Of Mychart, Dava O. Helton

DNP Projects

Purpose: The purpose of this project was to understand providers’ views of electronic messaging through MyChart and find out the essential tools needed to comply with Stage 3 criteria of Meaningful Use. The objectives were to: 1) Discover providers’ current thoughts/opinions about electronic messaging, 2) Identify perceived benefits and barriers to using secure electronic messaging between providers and patients, and 3) Discover the perceived essential tools needed to meet Stage 3 criteria.

Methods: A needs assessment was performed through a provider survey. Providers at primary care offices with reliable Wi-Fi were approached about the project. Volunteer participants were given a …


Future Of Australia’S Etp: Script Exchange, Script Vault Or Secure Mobile Alternative, Kyaw Kyaw Htat, Patricia A. H. Williams, Vincent Mccauley Jan 2016

Future Of Australia’S Etp: Script Exchange, Script Vault Or Secure Mobile Alternative, Kyaw Kyaw Htat, Patricia A. H. Williams, Vincent Mccauley

Australian Information Security Management Conference

Electronic transfer of prescriptions is an essential element of electronic medications management. Unfortunately, current manual and preliminary electronic transfer of prescription methods are not patient focussed, leading to a suboptimal solution for the patient. This is increasingly relevant in the push for more patient engagement in their own healthcare. The area is highly controlled by legislation and regulation. Through research and an analysis of the possible methods to improve and personalise electronic transfer of prescriptions, this paper provides an overview of these conclusions, and presents an alternative technical solution. The solution has been derived from a number of experiments in …


Umls::Association - Measuring The Association Between Biomedical Terms, Keith B. Herbert Jan 2016

Umls::Association - Measuring The Association Between Biomedical Terms, Keith B. Herbert

Undergraduate Research Posters

UMLS::Association - A Semantic Association Framework for Biomedical Texts

Keith Herbert

Natural Language Processing Lab, Department of Computer Science

Introduction

We present UMLS::Association, a software package to explore the semantic association of biomedical terms with applications for literature-based discovery. Literature-based discovery is an endeavour to ”connect the dots” for scientists between the topics of their research and those of unexpected relevance. However, many approaches rely on the exact wording for the ideas in the research papers being analyzed. The Unified Medical Language System (UMLS) provides a way to map natural language phrases in these papers to sequences of abstract yet …


Development & Integration Of Fhir With Open-Source Emr & Relational Databases, Timothy Van Wagner Jan 2016

Development & Integration Of Fhir With Open-Source Emr & Relational Databases, Timothy Van Wagner

Dissertations, Master's Theses and Master's Reports

This project looks into the development and implementation of an open source EHR software, using a FHIR interface to the system for data exchange. The EMR system used was OpenEMR, which is an open source EMR system that uses MySQL as the database backend combined with Apache and PHP to provide a user interface. The FHIR interface uses HAPI-FHIR which is an open source framework and libraries available for JAVA. Using JAVA, a RESTful API is created in order to respond to requests, and to also receive FHIR messages using the information stored in the two SQL databases, OpenEMR database …


Design And Testing Of An Ehr-Integrated, Busulfan Pharmacokinetic Decision Support Tool For The Point-Of-Care Clinician., Susan M. Abdel-Rahman, Matthew L. Breitkreutz, Charlie Bi, Brett J. Matzuka, Jignesh Dalal, K Leigh Casey, Uttam Garg, Sara Winkle, J Steven Leeder, Jeanann Breedlove, Brian Rivera Jan 2016

Design And Testing Of An Ehr-Integrated, Busulfan Pharmacokinetic Decision Support Tool For The Point-Of-Care Clinician., Susan M. Abdel-Rahman, Matthew L. Breitkreutz, Charlie Bi, Brett J. Matzuka, Jignesh Dalal, K Leigh Casey, Uttam Garg, Sara Winkle, J Steven Leeder, Jeanann Breedlove, Brian Rivera

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: Busulfan demonstrates a narrow therapeutic index for which clinicians routinely employ therapeutic drug monitoring (TDM). However, operationalizing TDM can be fraught with inefficiency. We developed and tested software encoding a clinical decision support tool (DST) that is embedded into our electronic health record (EHR) and designed to streamline the TDM process for our oncology partners.

METHODS: Our development strategy was modeled based on the features associated with successful DSTs. An initial Requirements Analysis was performed to characterize tasks, information flow, user needs, and system requirements to enable push/pull from the EHR. Back-end development was coded based on the algorithm …


Insights From Machine-Learned Diet Success Prediction, Ingmar Weber, Palakorn Achananuparp Jan 2016

Insights From Machine-Learned Diet Success Prediction, Ingmar Weber, Palakorn Achananuparp

Research Collection School Of Computing and Information Systems

To support people trying to lose weight and stay healthy, more and more fitness apps have sprung up including the ability to track both calories intake and expenditure. Users of such apps are part of a wider “quantified self“ movement and many opt-in to publicly share their logged data. In this paper, we use public food diaries of more than 4,000 long-term active MyFitnessPal users to study the characteristics of a (un-)successful diet. Concretely, we train a machine learning model to predict repeatedly being over or under self-set daily calories goals and then look at which features contribute to the …


Challenges And Futures For Ethical Social Media Research, Casey Fiesler, Stevie Chancellor, Anna Lauren Hoffmann, Jessica Pater, Nicholas Proferes Jan 2016

Challenges And Futures For Ethical Social Media Research, Casey Fiesler, Stevie Chancellor, Anna Lauren Hoffmann, Jessica Pater, Nicholas Proferes

Health Services and Informatics Research

In AAAI Conference on Web and Social Media ICWSM Workshop:

Social media and user-generated content platforms have opened up new possibilities for communication and creativity while also providing huge amounts of information about people and their online behavior. The evolution of technology and research methods presents ongoing ethical challenges to studying people and their digital traces. These challenges are a continuing source of discussion within the research community and also a topic of public discourse as social media scholarship gains greater visibility. This workshop is aimed at exploring difficult and unanswered ethical questions, touching on issues such as consent, privacy, …


#Thyghgapp: Instagram Content Moderation And Lexical Variation In Pro-Eating Disorder Communities, Stevie Chancellor, Jessica Pater, Trustin Clear, Eric Gilbert, Munmun De Choudhury Jan 2016

#Thyghgapp: Instagram Content Moderation And Lexical Variation In Pro-Eating Disorder Communities, Stevie Chancellor, Jessica Pater, Trustin Clear, Eric Gilbert, Munmun De Choudhury

Health Services and Informatics Research

CSCW '16, FEBRUARY 27–MARCH2, 2016, SAN FRANCISCO, CA, USA

In Proceedings of the 19th ACM conference on computer-supported cooperative work & social computing.

Pro-eating disorder (pro-ED) communities on social media encourage the adoption and maintenance of disordered eating habits as acceptable alternative lifestyles rather than threats to health. In particular, the social networking site Instagram has reacted by banning searches on several proED tags and issuing content advisories on others. We present the first large-scale quantitative study investigating pro-ED communities on Instagram in the aftermath of moderation – our dataset contains 2.5M posts between 2011 and 2014. We find that …


Constellation: A Tool For Rapid, Automated Phenotype Assignment Of A Highly Polymorphic Pharmacogene,, Greyson P. Twist, Andrea Gaedigk, Neil A. Miller, Emily G. Farrow, Laurel K. Willig, Darrell L. Dinwiddie, Josh E. Petrikin, Sarah E. Soden, Suzanne Herd, Margaret Gibson, Julie A. Cakici, Amanda K. Riffel, J Steven Leeder, Deendayal Dinakarpandian, Stephen F. Kingsmore Jan 2016

Constellation: A Tool For Rapid, Automated Phenotype Assignment Of A Highly Polymorphic Pharmacogene,, Greyson P. Twist, Andrea Gaedigk, Neil A. Miller, Emily G. Farrow, Laurel K. Willig, Darrell L. Dinwiddie, Josh E. Petrikin, Sarah E. Soden, Suzanne Herd, Margaret Gibson, Julie A. Cakici, Amanda K. Riffel, J Steven Leeder, Deendayal Dinakarpandian, Stephen F. Kingsmore

Manuscripts, Articles, Book Chapters and Other Papers

An important component of precision medicine-the use of whole-genome sequencing (WGS) to guide lifelong healthcare-is electronic decision support to inform drug choice and dosing. To achieve this, automated identification of genetic variation in genes involved in drug absorption, distribution, metabolism, excretion and response (ADMER) is required. CYP2D6 is a major enzyme for drug bioactivation and elimination. CYP2D6 activity is predominantly governed by genetic variation; however, it is technically arduous to haplotype. Not only is the nucleotide sequence of CYP2D6 highly polymorphic, but the locus also features diverse structural variations, including gene deletion, duplication, multiplication events and rearrangements with the nonfunctional, …