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Full-Text Articles in Medicine and Health Sciences

Anxiety, Depression And Smoking Status Among Adults Of Mexican Heritage On The Texas-Mexico Border, Anna V. Wilkinson, Kristina Vatcheva, Adriana Pérez, Belinda M. Reininger, Joseph B. Mccormick, Susan P. Fisher-Hoch Aug 2014

Anxiety, Depression And Smoking Status Among Adults Of Mexican Heritage On The Texas-Mexico Border, Anna V. Wilkinson, Kristina Vatcheva, Adriana Pérez, Belinda M. Reininger, Joseph B. Mccormick, Susan P. Fisher-Hoch

School of Mathematical & Statistical Sciences Faculty Publications

The goal of the current analysis is to examine relationships between smoking status and anxiety and depression among adults of Mexican heritage to inform the development of culturally relevant smoking cessations efforts. Mexican heritage residents (N=1,791) of the city of Brownsville, TX, aged 18 years or older, enrolled in the Cameron County Hispanic Cohort, were selected through two stage cluster sampling of randomly selected census tracts from the first and third quartile of SES using Census 2000. Among current smokers, anxiety and depression scores were highest among women who had not completed high school (p<0.05). Former smoking women, but not men, with at least a high school education and former smoking women born in the United States reported higher levels of anxiety and depression than never smoking women. Negative affective states may represent a greater barrier to smoking cessation among women than men.


Volumetric Scintillation Dosimetry For Scanned Proton Beams, Daniel G. Robertson Aug 2014

Volumetric Scintillation Dosimetry For Scanned Proton Beams, Daniel G. Robertson

Dissertations and Theses (Open Access)

Scanned beam proton therapy is a promising cancer treatment modality which is becoming more widely available with the increasing number of proton radiotherapy centers. Scanned proton beams can produce complex 3D dose distributions, presenting a challenge for adequate quality assurance testing. Because each scanned beam dose measurement requires the delivery of the entire field, multiple measurements can be time consuming. These quality assurance challenges limit the number of patients who can be treated with this modality. The overall objective of this project is to increase the safety and availability of complex proton therapy treatments by developing a fast volumetric scintillation …


Genetic Predictors Of Metabolic Side Effects Of Diuretic Therapy, Jorge L. Del Aguila Aug 2014

Genetic Predictors Of Metabolic Side Effects Of Diuretic Therapy, Jorge L. Del Aguila

Dissertations and Theses (Open Access)

Thiazide diuretics are a recommended first-line monotherapy for hypertension (i.e.SBP>140 mmHg or DBP>90 mmHg). Even so, diuretics are associated with adverse metabolic side effects, such as hyperlipidemia, hyperglycemia and hypokalemia which increase the risk of developing type II diabetes. This thesis used three analytical strategies to identify and quantify genetic factors that contribute to the development of adverse metabolic effects due to thiazide diuretic treatment. I performed a genome-wide association study (GWAS) and meta-analysis of the change in fasting plasma glucose and triglycerides in response to HCTZ from two different clinical trials: the Pharmacogenomic Evaluation of Antihypertensive Responses …


Development Of A New Independent Monte Carlo Dose Calculation Quality Assurance Audit To Ol For Clinical Trials, Austin M. Faught Aug 2014

Development Of A New Independent Monte Carlo Dose Calculation Quality Assurance Audit To Ol For Clinical Trials, Austin M. Faught

Dissertations and Theses (Open Access)

Introduction: Commercially available treatment planning systems (TPS) may use a number of different radiation dose calculation algorithms during the planning process. The Radiological Physics Center (RPC), tasked with ensuring clinically comparable and consistent dose delivery amongst institutions participating in NCI funded multi-institutional clinical trials, has traditionally relied upon measurements to achieve this objective. As a supplement to the tools used by the RPC, an independent dose calculation tool is needed to determine patient dose distributions in three dimensions so as to act as a quality assurance tool for the dose calculations.

Methods: Multiple source models representing the output of Elekta …


Automated Prediction Of Glasgow Outcome Scale For Traumatic Brain Injury, Bolan Su, Thien Anh Dinh, A. K. Ambastha, Tianxia Gong, Tomi Silander, Shijian Lu, C. C. Tchoyoson Lim, Boon Chuan Pang, Cheng Kiang Lee, Tze-Yun Leong, Chew Lim Tan Aug 2014

Automated Prediction Of Glasgow Outcome Scale For Traumatic Brain Injury, Bolan Su, Thien Anh Dinh, A. K. Ambastha, Tianxia Gong, Tomi Silander, Shijian Lu, C. C. Tchoyoson Lim, Boon Chuan Pang, Cheng Kiang Lee, Tze-Yun Leong, Chew Lim Tan

Research Collection School Of Computing and Information Systems

Clinical features found in brain CT scan images are widely used in traumatic brain injury (TBI) as indicators for Glasgow Outcome Scale (GOS) prediction. However, due to the lack of automated methods to measure and quantify the CT scan image features, the computerized prediction of GOS in TBI has not been well studied. This paper introduces an automated GOS prediction system for traumatic brain CT images. Different from most existing systems that perform the prognosis based on pre-processed data, our system directly works on brain CT scan images based on the image features. Our system can also be extended to …


Strategic Focus On 3r Principles Reveals Major Reductions In The Use Of Animals In Pharmaceutical Toxicity Testing, Elin Törnqvist, Anita Annas, Britta Granath, Elisabeth Jalkesten, Ian Cotgreave, Mattias Öberg Jul 2014

Strategic Focus On 3r Principles Reveals Major Reductions In The Use Of Animals In Pharmaceutical Toxicity Testing, Elin Törnqvist, Anita Annas, Britta Granath, Elisabeth Jalkesten, Ian Cotgreave, Mattias Öberg

Application of Alternative Methods Collection

The principles of the 3Rs, Replacement, Reduction and Refinement, are being increasingly incorporated into legislations, guidelines and practice of animal experiments in order to safeguard animal welfare. In the present study we have studied the systematic application of 3R principles to toxicological research in the pharmaceutical industry, with particular focus on achieving reductions in animal numbers used in regulatory and investigatory in vivo studies. The work also details major factors influencing these reductions including the conception of ideas, cross-departmental working and acceptance into the work process. Data from 36 reduction projects were collected retrospectively from work between 2006 and 2010. …


A Comparison Of Five Malaria Transmission Models: Benchmark Tests And Implications For Disease Control, Dorothy I. Wallace, Ben S. Southworth, Xun Shi, Jonathan W. Chipman, Andrew K. Githeko Jul 2014

A Comparison Of Five Malaria Transmission Models: Benchmark Tests And Implications For Disease Control, Dorothy I. Wallace, Ben S. Southworth, Xun Shi, Jonathan W. Chipman, Andrew K. Githeko

Dartmouth Scholarship

Background: Models for malaria transmission are usually compared based on the quantities tracked, the form taken by each term in the equations, and the qualitative properties of the systems at equilibrium. Here five models are compared in detail in order to develop a set of performance measures that further illuminate the differences among models.

Methods: Five models of malaria transmission are compared. Parameters are adjusted to correspond to similar biological quantities across models. Nine choices of parameter sets/initial conditions are tested for all five models. The relationship between malaria incidence in humans and (1) malaria incidence in vectors, (2) man-biting …


Association Between Class Iii Obesity (Bmi Of 40-59 Kg/M2) And Mortality: A Pooled Analysis Of 20 Prospective Studies, Cari M. Kitahara, Alan J. Flint, Amy Berrington De Gonzalez, Leslie Bernstein, Michelle Brotzman, Kim Robien, +30 Additional Authors Jul 2014

Association Between Class Iii Obesity (Bmi Of 40-59 Kg/M2) And Mortality: A Pooled Analysis Of 20 Prospective Studies, Cari M. Kitahara, Alan J. Flint, Amy Berrington De Gonzalez, Leslie Bernstein, Michelle Brotzman, Kim Robien, +30 Additional Authors

Epidemiology Faculty Publications

Background

The prevalence of class III obesity (body mass index [BMI]≥40 kg/m2) has increased dramatically in several countries and currently affects 6% of adults in the US, with uncertain impact on the risks of illness and death. Using data from a large pooled study, we evaluated the risk of death, overall and due to a wide range of causes, and years of life expectancy lost associated with class III obesity.

Methods and Findings

In a pooled analysis of 20 prospective studies from the United States, Sweden, and Australia, we estimated sex- and age-adjusted total and cause-specific mortality rates (deaths per …


Santa Clara Magazine, Volume 55 Number 4, Summer 2014, Santa Clara University Jul 2014

Santa Clara Magazine, Volume 55 Number 4, Summer 2014, Santa Clara University

Santa Clara Magazine

20 - A DAY WITH THE DALAI LAMA photos by Charles Barry, Noah Berger, and Michael Collopy . Close-ups and long views from the spiritual leader’s Feb. 24 visit.

24 - THE CATHOLIC WRITER TODAY by Dana Gioia. The poet, critic, and former chairman of the National Endowment for the Arts argues that Catholic writers must renovate and reoccupy their own tradition. At stake: the diversity and vitality of the American arts.

38 - OUR STORIES AND THE THEATRE OF AWE an interview with Marilynne Robinson. The Pulitzer Prize–winning writer speaks with Editor Steven Boyd Saum about grace, discernment, and …


Using The Microsoft Kinect To Assess Human Bimanual Coordination, Joshua James Liddy Jul 2014

Using The Microsoft Kinect To Assess Human Bimanual Coordination, Joshua James Liddy

Open Access Theses

Optical marker-based systems are the gold-standard for capturing three-dimensional (3D) human kinematics. However, these systems have various drawbacks including time consuming marker placement, soft tissue movement artifact, and are prohibitively expensive and non-portable. The Microsoft Kinect is an inexpensive, portable, depth camera that can be used to capture 3D human movement kinematics. Numerous investigations have assessed the Kinect's ability to capture postural control and gait, but to date, no study has evaluated it's capabilities for measuring spatiotemporal coordination. In order to investigate human coordination and coordination stability with the Kinect, a well-studied bimanual coordination paradigm (Kelso, 1984, Kelso; Scholz, & …


Investigation Into The Control Of Melittin Secondary Structure And Antimicrobial Activity, Zachary B. Molinets Jul 2014

Investigation Into The Control Of Melittin Secondary Structure And Antimicrobial Activity, Zachary B. Molinets

Open Access Theses

Antimicrobial resistance has been an exponentially growing problem since the discovery of antibiotics. Antibiotics have been misused for many years and this misuse has grown into a real problem for the medical community. While there are countless safeguards to prevent infection by a resistant strain of bacteria, there are still many plagued by it and must be treated with sometimes dangerous antibiotics. Melittin, along with many other peptides, contain potent antimicrobial properties, but are also toxic toward enthrocytes. The control of the secondary structure of peptides provides the key to adjusting their activity.


Determination Of Corrosion Inhibitor Lubricity Improver In Jet Fuel By Liquid Chromatography-Electrospray Ionization Mass Spectrometry, David W. Johnson, Milissa Flake, Ryan Adams Jul 2014

Determination Of Corrosion Inhibitor Lubricity Improver In Jet Fuel By Liquid Chromatography-Electrospray Ionization Mass Spectrometry, David W. Johnson, Milissa Flake, Ryan Adams

Chemistry Faculty Publications

Military jet fuel (JP-8) is very similar to commercial jet fuel (Jet A) except for the presence of three additives, fuel system icing inhibitor, corrosion inhibitor–lubricity improver (CI-LI), and antistatic additive, which are added to improve characteristics of JP-8. Of particular interest is the CI-LI additive; the most common active ingredient is a dimer of linoleic acid. This article focuses on quantification of the active ingredient in the CI-LI additive by liquid chromatography–mass spectrometry (LC–MS). This method will allow the determination of CI-LI content in military jet fuel samples.


Trends And Determinants Of Up-To-Date Status With Colorectal Cancer Screening In Tennessee, 2002-2008, Sreenivas P. Veeranki, Shimin Zheng Jul 2014

Trends And Determinants Of Up-To-Date Status With Colorectal Cancer Screening In Tennessee, 2002-2008, Sreenivas P. Veeranki, Shimin Zheng

ETSU Faculty Works

BACKGROUND:

Screening rates for colorectal cancer (CRC) are increasing nationwide including Tennessee (TN); however, their up-to-date status is unknown. The objective of this study is to determine the trends and characteristics of TN adults who are up-to-date status with CRC screening during 2002-2008.

METHODS:

We examined data from the TN Behavioral Risk Factor Surveillance System for 2002, 2004, 2006 and 2008 to estimate the proportion of respondents aged 50 years and above who were up-to-date status with CRC screening, defined as an annual home fecal occult blood test and/or sigmoidoscopy or colonoscopy in the past 5 years. We identified trends …


A Likelihood Approach To Estimate The Number Of Co-Infections, Kristian A. Schneider, Ananias A. Escalante Jul 2014

A Likelihood Approach To Estimate The Number Of Co-Infections, Kristian A. Schneider, Ananias A. Escalante

Harold W. Manter Laboratory of Parasitology: Library Materials

Article abstract:

The number of co-infections of a pathogen (multiplicity of infection or MOI) is a relevant parameter in epidemiology as it relates to transmission intensity. Notably, such quantities can be built into a metric in the context of disease control and prevention. Having applications to malaria in mind, we develop here a maximum-likelihood (ML) framework to estimate the quantities of interest at low computational and no additional costs to study designs or data collection. We show how the ML estimate for the quantities of interest and corresponding confidence-regions are obtained from multiple genetic loci. Assuming specifically that infections are …


Interactions Of Various Bacterial Populations With Chemical And Physical Factors From Seasonal Inputs And Outputs Of Retention Ponds, Felicia A. Krelwitz Jul 2014

Interactions Of Various Bacterial Populations With Chemical And Physical Factors From Seasonal Inputs And Outputs Of Retention Ponds, Felicia A. Krelwitz

All Student Theses and Dissertations

Retention ponds at Governors State University play an important role in collecting and treating storm water runoff before leaving campus and entering Thorn Creek. Many chemical and physical factors influence the diversity of bacterial populations in freshwater ecosystems. The main objective of this study was to compare the interactions of various bacterial populations with chemical and physical factors from seasonal inputs and outputs of Governors State University retention ponds before being discharged into Thorn Creek. The retention ponds studied include the Café Settling pond, Café pond and Beaver pond. Water and sediment were collected from inputs and outputs every other …


Use Of System Dynamics Modeling To Explicate The Theory-Of-Change Of A Social Marketing Innovation, Brian J. Biroscak Jul 2014

Use Of System Dynamics Modeling To Explicate The Theory-Of-Change Of A Social Marketing Innovation, Brian J. Biroscak

USF Tampa Graduate Theses and Dissertations

Community coalitions are an important part of the public health milieu and thus subject to many of the same external pressures as public health organizations--including changes in required strategic orientation. Many funding agencies have shifted their funding agenda from program development to policy change. Thus, the Florida Prevention Research Center created the Community-Based Prevention Marketing for Policy Development framework to teach community coalitions how to apply social marketing to policy change. The dissertation research reported here was designed to explicate the framework's theory-of-change. The research question was: "What are the linkages and connections between CBPM inputs, activities, immediate outcomes, intermediate …


Evaluation Of Ct Images Created Using A New Metal Artifact Reduction Reconstruction Algorithm For Radiation Therapy Treatment Planning, John Niemkiewicz, Andrew G. Palmiotti, Marc S. Miner, Lee E. Stunja, Jenelle Bergene Jul 2014

Evaluation Of Ct Images Created Using A New Metal Artifact Reduction Reconstruction Algorithm For Radiation Therapy Treatment Planning, John Niemkiewicz, Andrew G. Palmiotti, Marc S. Miner, Lee E. Stunja, Jenelle Bergene

Department of Radiation Oncology

No abstract provided.


Meshless Mechanics And Point-Based Visualization Methods For Surgical Simulations, Rifat Aras Jul 2014

Meshless Mechanics And Point-Based Visualization Methods For Surgical Simulations, Rifat Aras

Computational Modeling & Simulation Engineering Theses & Dissertations

Computer-based modeling and simulation practices have become an integral part of the medical education field. For surgical simulation applications, realistic constitutive modeling of soft tissue is considered to be one of the most challenging aspects of the problem, because biomechanical soft-tissue models need to reflect the correct elastic response, have to be efficient in order to run at interactive simulation rates, and be able to support operations such as cuts and sutures.

Mesh-based solutions, where the connections between the individual degrees of freedom (DoF) are defined explicitly, have been the traditional choice to approach these problems. However, when the problem …


Preliminary Test Of A Real-Time, Interactive Silent Speech Interface Based On Electromagnetic Articulograph, Jun Wang, Ashok Samal, Jordan R. Green Jun 2014

Preliminary Test Of A Real-Time, Interactive Silent Speech Interface Based On Electromagnetic Articulograph, Jun Wang, Ashok Samal, Jordan R. Green

School of Computing: Conference and Workshop Papers

A silent speech interface (SSI) maps articulatory movement data to speech output. Although still in experimental stages, silent speech interfaces hold significant potential for facilitating oral communication in persons after laryngectomy or with other severe voice impairments. Despite the recent efforts on silent speech recognition algorithm development using offline data analysis, online test of SSIs have rarely been conducted. In this paper, we present a preliminary, online test of a real-time, interactive SSI based on electromagnetic motion tracking. The SSI played back synthesized speech sounds in response to the user’s tongue and lip movements. Three English talkers participated in this …


Application Of Nuclear Magnetic Resonance Based Metabolomics To Study The Central Metabolism Of Staphylococci, Bo Zhang Jun 2014

Application Of Nuclear Magnetic Resonance Based Metabolomics To Study The Central Metabolism Of Staphylococci, Bo Zhang

Department of Chemistry: Dissertations, Theses, and Student Research

Metabolomics studies the collection of small molecules (metabolites) involved in enzymatically catalyzed reactions, cell signaling and cellular structure. Perturbations in metabolite concentrations have been used to reflect the activity of corresponding enzymes or proteins. Nuclear magnetic resonance (NMR) spectroscopy is a well-known approach for the structure determination of biological macromolecules. Alternatively, NMR has recently been established as a valuable tool of metabolomics, in which NMR spectral signals correlate small molecules with cellular activities. This has been accomplished through the chemometric analysis of high-throughput one dimensional 1H spectra (metabolic fingerprinting) and quantitative metabolite identification based on two dimensional 1H, …


Plasminogen Activator Inhibitor-1 Inhibitors And Methods Of Use Thereof To Modulate Lipid Metabolism, Daniel A. Lawrence, Dudley Strickland, Jacqueline Cale, Enming Joe Su, Cory Emal, Mark Warnock Jun 2014

Plasminogen Activator Inhibitor-1 Inhibitors And Methods Of Use Thereof To Modulate Lipid Metabolism, Daniel A. Lawrence, Dudley Strickland, Jacqueline Cale, Enming Joe Su, Cory Emal, Mark Warnock

Patents

The invention relates to plasminogen activator-I (PAI-1) inhibitor compounds and uses thereof in the treatment of any disease or condition associated with elevated PAI-1. The invention includes, but is not limited to, the use of such compounds to modulate lipid metabolism and treat conditions associated with elevated PAI-1, cholesterol, or lipid levels.


Stroke Patient Rehabilitation: A Pilot Study Of An Android-Based Game, Ma. Mercedes T. Rodrigo Jun 2014

Stroke Patient Rehabilitation: A Pilot Study Of An Android-Based Game, Ma. Mercedes T. Rodrigo

Department of Information Systems & Computer Science Faculty Publications

Background

Cerebral vascular accidents (strokes) are the primary cause of disability worldwide and the second leading cause of death both in the Philippines and internationally. In recent years, a number of computer-based applications have been developed to assist in the stroke recovery process.

Aim

This article discusses an Android-based tablet game, FINDEX, that aids in the rehabilitation process of stroke survivors with impaired fine motor skills.

Method

FINDEX was designed and developed in the Philippines. The game contains assessment and monitoring support for tracking the patient’s progress in terms of fine finger dexterity, for example, finger control, isolation and coordination, …


Can The Usa National Weather Service Heat Index Substitute For Wet Bulb Globe Temperature For Heat Stress Exposure Assessment?, Ivory Iheanacho Jun 2014

Can The Usa National Weather Service Heat Index Substitute For Wet Bulb Globe Temperature For Heat Stress Exposure Assessment?, Ivory Iheanacho

USF Tampa Graduate Theses and Dissertations

Heat stress occurs when the body cannot adequately cool itself due to the combined contributions of metabolic heat, environmental factors and clothing. Heat stress found in the workplace puts employees at risk of developing heat-related illnesses, disorders and could be fatal. The wet bulb globe temperature (WBGT) index is the current method used to assess environmental contributions to heat stress in an occupational setting. The purpose of this thesis was to explore whether the National Weather Service's Heat Index (HI) could substitute for the WBGT Index during occupational heat stress exposure assessment. The possibility of using the HI for heat …


A Novel Label-Free Colorimetric Assay For Dna Concentration In Solution, Molla R. Islam, Michael J. Serpe Jun 2014

A Novel Label-Free Colorimetric Assay For Dna Concentration In Solution, Molla R. Islam, Michael J. Serpe

Biology, Chemistry, and Environmental Sciences Faculty Articles and Research

Optical devices were fabricated by sandwiching a “monolithic” poly(N-isopropylacrylamide-co-N-(3-aminopropyl) methacrylamide hydrochloride) (pNIPAm-co-APMAH) microgel layer between two semitransparent Au layers. These devices, referred to as etalons, exhibit characteristic multipeak reflectance spectra, and the position of the peaks in the spectra primarily depends on the distance between the Au surfaces mediated by the microgel layer thickness. Here, we show that the positively charged microgel layer can collapse in the presence of negatively charged single stranded DNA (ssDNA) due to ssDNA induced microgel crosslinking. The collapse results in a change in the etalon's optical properties, which can be used to detect target DNA …


Characterization Of Waste Anesthetic Gas Exposures To Veterinary Workers In The Tampa Bay Area, Kyle Vogel Jun 2014

Characterization Of Waste Anesthetic Gas Exposures To Veterinary Workers In The Tampa Bay Area, Kyle Vogel

USF Tampa Graduate Theses and Dissertations

Veterinarians routinely conduct surgical operations on animals while veterinary technicians administer anesthetic gas to sedate the animal prior to an operation. One commonly used anesthetic agent in veterinary clinics is isoflurane. Veterinary workers have the potential to be exposed to this gas during surgical operations. The Occupational Safety and Health Administration (OSHA) does not have a specific Permissible Exposure Limit (PEL) for isoflurane, however The National Institutes for Health (NIH) does advise that workers should not be exposed to isoflurane in concentrations exceeding 2 parts per million (ppm) for an 8 hour Time Weighted Average (TWA).

Animal clinics vary in …


Rationale, Design, And Baseline Characteristics Of A Randomized, Placebo-Controlled Cardiovascular Outcome Trial Of Empagliflozin (Empa-Reg Outcometm), Bernard Zinman, Silvio E. Inzucchi, John M. Lachin, Christoph Wanner, Roberto Ferrari, David Fitchett, Erich Bluhmki, Stefan Hantel, Joan Kempthorne-Rawson, Jennifer Newman, Odd Erik Johansen, Hans Juergen Woerle, Uli C. Broedl Jun 2014

Rationale, Design, And Baseline Characteristics Of A Randomized, Placebo-Controlled Cardiovascular Outcome Trial Of Empagliflozin (Empa-Reg Outcometm), Bernard Zinman, Silvio E. Inzucchi, John M. Lachin, Christoph Wanner, Roberto Ferrari, David Fitchett, Erich Bluhmki, Stefan Hantel, Joan Kempthorne-Rawson, Jennifer Newman, Odd Erik Johansen, Hans Juergen Woerle, Uli C. Broedl

Epidemiology Faculty Publications

Background

Evidence concerning the importance of glucose lowering in the prevention of cardiovascular (CV) outcomes remains controversial. Given the multi-faceted pathogenesis of atherosclerosis in diabetes, it is likely that any intervention to mitigate this risk must address CV risk factors beyond glycemia alone. The SGLT-2 inhibitor empagliflozin improves glucose control, body weight and blood pressure when used as monotherapy or add-on to other antihyperglycemic agents in patients with type 2 diabetes. The aim of the ongoing EMPA-REG OUTCOMETM trial is to determine the long-term CV safety of empagliflozin, as well as investigating potential benefits on microvascular outcomes.

Methods

Patients who …


Evaluation Of The Power And Type 1 Error Of Recently Proposed Family-Based Tests Of Assocations For Rare Variants, Allison Hainline, Carolina Alvarez, Alexander Luedtke, Brian Greco, Andrew Beck, Nathan L. Tintle Jun 2014

Evaluation Of The Power And Type 1 Error Of Recently Proposed Family-Based Tests Of Assocations For Rare Variants, Allison Hainline, Carolina Alvarez, Alexander Luedtke, Brian Greco, Andrew Beck, Nathan L. Tintle

Faculty Work Comprehensive List

Until very recently, few methods existed to analyze rare-variant association with binary phenotypes in complex pedigrees. We consider a set of recently proposed methods applied to the simulated and real hypertension phenotype as part of the Genetic Analysis Workshop 18. Minimal power of the methods is observed for genes containing variants with weak effects on the phenotype. Application of the methods to the real hypertension phenotype yielded no genes meeting a strict Bonferroni cutoff of significance. Some prior literature connects 3 of the 5 most associated genes (p <1 × 10−4) to hypertension or related phenotypes. Further methodological development is needed to extend these methods to handle covariates, and to explore more powerful test alternatives.


Evaluating The Concordance Between Sequencing, Imputation And Microarray Genotype Calls In The Gaw18 Data, Ally Rogers, Andrew Beck, Nathan L. Tintle Jun 2014

Evaluating The Concordance Between Sequencing, Imputation And Microarray Genotype Calls In The Gaw18 Data, Ally Rogers, Andrew Beck, Nathan L. Tintle

Faculty Work Comprehensive List

Genotype errors are well known to increase type I errors and/or decrease power in related tests of genotypephenotype association, depending on whether the genotype error mechanism is associated with the phenotype. These relationships hold for both single and multimarker tests of genotype-phenotype association. To assess the potential for genotype errors in Genetic Analysis Workshop 18 (GAW18) data, where no gold standard genotype calls are available, we explored concordance rates between sequencing, imputation, and microarray genotype calls. Our analysis shows that missing data rates for sequenced individuals are high and that there is a modest amount of called genotype discordance between …


Genetic Analysis Workshop 18: Methods And Strategies For Analyzing Human Sequence And Phenotype Data In Members Of Extended Pedigrees, Heike Bickeboller, Julia N. Bailey, Joseph Beyene, Rita M. Cantor, Heather J. Cordell, Robert C. Culverhouse, Corinne D. Engelman, David W. Fardo, Saurabh Ghosh, Inke R. Konig, Justo Lorenzo Bermejo, Phillip E. Melton, Stephanie A. Santorico, Glen A. Satten, Lei Sun, Nathan L. Tintle, Andreas Ziegler, Jean W. Maccluer, Laura Almasy Jun 2014

Genetic Analysis Workshop 18: Methods And Strategies For Analyzing Human Sequence And Phenotype Data In Members Of Extended Pedigrees, Heike Bickeboller, Julia N. Bailey, Joseph Beyene, Rita M. Cantor, Heather J. Cordell, Robert C. Culverhouse, Corinne D. Engelman, David W. Fardo, Saurabh Ghosh, Inke R. Konig, Justo Lorenzo Bermejo, Phillip E. Melton, Stephanie A. Santorico, Glen A. Satten, Lei Sun, Nathan L. Tintle, Andreas Ziegler, Jean W. Maccluer, Laura Almasy

Faculty Work Comprehensive List

Genetic Analysis Workshop 18 provided a platform for developing and evaluating statistical methods to analyze whole-genome sequence data from a pedigree-based sample. In this article we present an overview of the data sets and the contributions that analyzed these data. The family data, donated by the Type 2 Diabetes Genetic Exploration by Next-Generation Sequencing in Ethnic Samples Consortium, included sequence-level genotypes based on sequencing and imputation, genome-wide association genotypes from prior genotyping arrays, and phenotypes from longitudinal assessments. The contributions from individual research groups were extensively discussed before, during, and after the workshop in theme-based discussion groups before being submitted …


Application Of Family-Based Tests Of Association For Rare Variants To Pathways, Brian Greco, Alexander Luedtke, Allison Hainline, Carolina Alvarez, Andrew Beck, Nathan L. Tintle Jun 2014

Application Of Family-Based Tests Of Association For Rare Variants To Pathways, Brian Greco, Alexander Luedtke, Allison Hainline, Carolina Alvarez, Andrew Beck, Nathan L. Tintle

Faculty Work Comprehensive List

Pathway analysis approaches for sequence data typically either operate in a single stage (all variants within all genes in the pathway are combined into a single, very large set of variants that can then be analyzed using standard “gene-based” test statistics) or in 2-stages (gene-based p values are computed for all genes in the pathway, and then the gene-based p values are combined into a single pathway p value). To date, little consideration has been given to the performance of gene-based tests (typically designed for a smaller number of single-nucleotide variants [SNVs]) when the number of SNVs in the gene …