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You searched for +publisher:"Vanderbilt University" +contributor:("Digna Velez-Edwards"). Showing records 1 – 3 of 3 total matches.

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Vanderbilt University

1. Carroll, Robert James. Defining Phenotypes, Predicting Drug Response, and Discovering Genetic Associations in the Electronic Health Record with Applications in Rheumatoid Arthritis.

Degree: PhD, Biomedical Informatics, 2014, Vanderbilt University

Electronic Health Records (EHRs) allow for the digital capture of patient information and have proven to be a valuable tool for patient treatment. In this dissertation, I explore reuse of EHR data for clinical and genomic research with a focus on rheumatoid arthritis (RA). RA is a chronic autoimmune disorder that primarily affects joints with swelling, stiffness, and pain, and if left untreated can lead to permanent joint damage. Phenome wide association studies (PheWAS) leverage the breadth of codified diagnostic information about patients in the EHR to find disease associations. A package for the R statistical language is presented here that includes the tools needed to perform EHR-based or observational trial PheWAS, from ICD-9 code translation to association testing and meta-analysis. It includes a versatile plotting system for phenotype related information following the Manhattan plot paradigm. This methodology is applied in conjunction with genetic risk scores (GRS) to assess pleiotropy and shared genetic risk among phenotypes. Investigations of 99 known risk variants for RA and three formulations of GRS show that the GRS is more specific to RA than the individual single nucleotide polymorphisms, but the GRSs had clinically interesting associations with hypothyroidism. Presented next is the development of an algorithm to retrospectively identify drug response to etanercept in the EHR. Using chart reviews and a variety of input data including billing codes, processed free text, and medication entries, a support vector machine and random forest classifier were created that can discriminate between drug responders and non-responders with an area under the receiver operating characteristic curve of 0.939 and 0.923, respectively. The drug response algorithm was applied to create a case control cohort. Using these records, the final study identifies phenotypes associated with etanercept response, including fibromyalgia and several axial skeleton disease phenotypes: intervertebral disc disorders, degeneration of intervertebral disc, and spinal stenosis. Taken together, these studies demonstrate that EHR data can be an important tool for clinical and genomic research, and offer particular promise for the study of RA. Advisors/Committee Members: Josh Denny (chair), Tom Lasko (committee member), Hua Xu (committee member), Digna Velez-Edwards (committee member), Jeremy Warner (committee member).

Subjects/Keywords: Secondary use; data analysis; informatics

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APA · Chicago · MLA · Vancouver · CSE | Export to Zotero / EndNote / Reference Manager

APA (6th Edition):

Carroll, R. J. (2014). Defining Phenotypes, Predicting Drug Response, and Discovering Genetic Associations in the Electronic Health Record with Applications in Rheumatoid Arthritis. (Doctoral Dissertation). Vanderbilt University. Retrieved from http://etd.library.vanderbilt.edu/available/etd-11222014-155557/ ;

Chicago Manual of Style (16th Edition):

Carroll, Robert James. “Defining Phenotypes, Predicting Drug Response, and Discovering Genetic Associations in the Electronic Health Record with Applications in Rheumatoid Arthritis.” 2014. Doctoral Dissertation, Vanderbilt University. Accessed November 22, 2019. http://etd.library.vanderbilt.edu/available/etd-11222014-155557/ ;.

MLA Handbook (7th Edition):

Carroll, Robert James. “Defining Phenotypes, Predicting Drug Response, and Discovering Genetic Associations in the Electronic Health Record with Applications in Rheumatoid Arthritis.” 2014. Web. 22 Nov 2019.

Vancouver:

Carroll RJ. Defining Phenotypes, Predicting Drug Response, and Discovering Genetic Associations in the Electronic Health Record with Applications in Rheumatoid Arthritis. [Internet] [Doctoral dissertation]. Vanderbilt University; 2014. [cited 2019 Nov 22]. Available from: http://etd.library.vanderbilt.edu/available/etd-11222014-155557/ ;.

Council of Science Editors:

Carroll RJ. Defining Phenotypes, Predicting Drug Response, and Discovering Genetic Associations in the Electronic Health Record with Applications in Rheumatoid Arthritis. [Doctoral Dissertation]. Vanderbilt University; 2014. Available from: http://etd.library.vanderbilt.edu/available/etd-11222014-155557/ ;


Vanderbilt University

2. Jones, Carissa Christine. Examining the role of genetics in lung cancer survival and risk in African Americans.

Degree: PhD, Human Genetics, 2017, Vanderbilt University

Lung cancer is a leading cause of cancer in the United States and accounts for more deaths than prostate, breast, and colorectal cancers combined. Genetic variation has been known to play a role in lung cancer survival and risk. Furthermore, a racial disparity exists in lung cancer risk and survival such that African American males have increased risk and greater mortality compared to other U.S. racial/ethnic groups. This dissertation sought to expand our present understanding of the role of genetics in lung cancer survival and risk in African Americans. In a population of African Americans and whites from the Southern Community Cohort Study (SCCS), we examined the association between global African ancestry and overall survival and found no significant association. Stage and treatment, however, were strong predictors of overall survival. Since both stage and treatment are highly dependent on external social factors such as access to healthcare and willingness to seek treatment, we conclude that the observed racial disparity in lung cancer survival is strongly driven social determinants. We next examined genetic variants associated with lung cancer survival in the SCCS African Americans. We identified rs1878022 to be significantly associated with lung cancer survival, though in opposing direction to a previous study in whites. We also identified a region on chromosome 6p21.33 as suggestive of association with lung cancer survival. Finally, we sought to identify cross-cancer pleiotropic associations of lung cancer risk in African Americans by examining variant regions previously associated with cancer risk. We confirmed previous associations between chromosomes 15q25 and 5p15 and lung cancer risk. We also identified a peak on chromosome 16q22.2 significantly associated with increased lung cancer risk. Cumulatively these findings deepen our understanding of the role of genetics in both lung cancer risk and survival, particularly in African Americans. Future studies in African Americans are necessary to confirm these genetic associations. Advisors/Committee Members: Jeffrey Blume (committee member), Eric Grogan (committee member), Scott Williams (committee member), Digna Velez Edwards (chair), Melinda Aldrich (committee member).

Subjects/Keywords: survival; African Americans; risk; lung cancer; genetics

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APA · Chicago · MLA · Vancouver · CSE | Export to Zotero / EndNote / Reference Manager

APA (6th Edition):

Jones, C. C. (2017). Examining the role of genetics in lung cancer survival and risk in African Americans. (Doctoral Dissertation). Vanderbilt University. Retrieved from http://etd.library.vanderbilt.edu/available/etd-08022017-161854/ ;

Chicago Manual of Style (16th Edition):

Jones, Carissa Christine. “Examining the role of genetics in lung cancer survival and risk in African Americans.” 2017. Doctoral Dissertation, Vanderbilt University. Accessed November 22, 2019. http://etd.library.vanderbilt.edu/available/etd-08022017-161854/ ;.

MLA Handbook (7th Edition):

Jones, Carissa Christine. “Examining the role of genetics in lung cancer survival and risk in African Americans.” 2017. Web. 22 Nov 2019.

Vancouver:

Jones CC. Examining the role of genetics in lung cancer survival and risk in African Americans. [Internet] [Doctoral dissertation]. Vanderbilt University; 2017. [cited 2019 Nov 22]. Available from: http://etd.library.vanderbilt.edu/available/etd-08022017-161854/ ;.

Council of Science Editors:

Jones CC. Examining the role of genetics in lung cancer survival and risk in African Americans. [Doctoral Dissertation]. Vanderbilt University; 2017. Available from: http://etd.library.vanderbilt.edu/available/etd-08022017-161854/ ;


Vanderbilt University

3. Malinowski, Jennifer Renee. Women's Health: Genetic Variation in Complex Traits.

Degree: PhD, Human Genetics, 2014, Vanderbilt University

Personalized medicine, the individualization of clinical care based, in part, upon an individual√Ęs genetic background, can be thought of as a three step process: scientific discovery, validation, and clinical implementation. Women and individuals of diverse ethnic/racial backgrounds are at risk of widening health disparities unless additional emphasis is placed upon these subjects for future research. Genetic association studies were used to identify genetic variants that contribute to the timing of the reproductive lifespan in women, endometrial cancer, and elevated serum thyroid stimulating hormone levels. A rapid evidence review was performed to validate previously reported variants associated with hypothyroidism and consider the analytic evidence that genetic testing of asymptomatic adult women leads to improved health outcomes. The ethical, legal, and social impacts of personalized medicine implementation were evaluated from the perspectives of both the health care system and the general public. Advisors/Committee Members: Digna Velez-Edwards, Ph.D. (committee member), Ellen Wright Clayton, MD, JD (committee member), Melinda Aldrich, Ph.D., M.P.H. (chair), Dana C. Crawford, Ph.D. (chair), William S. Bush, Ph.D., M.S. (committee member).

Subjects/Keywords: personalized medicine; women's health; human genetics

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APA · Chicago · MLA · Vancouver · CSE | Export to Zotero / EndNote / Reference Manager

APA (6th Edition):

Malinowski, J. R. (2014). Women's Health: Genetic Variation in Complex Traits. (Doctoral Dissertation). Vanderbilt University. Retrieved from http://etd.library.vanderbilt.edu/available/etd-10262014-201331/ ;

Chicago Manual of Style (16th Edition):

Malinowski, Jennifer Renee. “Women's Health: Genetic Variation in Complex Traits.” 2014. Doctoral Dissertation, Vanderbilt University. Accessed November 22, 2019. http://etd.library.vanderbilt.edu/available/etd-10262014-201331/ ;.

MLA Handbook (7th Edition):

Malinowski, Jennifer Renee. “Women's Health: Genetic Variation in Complex Traits.” 2014. Web. 22 Nov 2019.

Vancouver:

Malinowski JR. Women's Health: Genetic Variation in Complex Traits. [Internet] [Doctoral dissertation]. Vanderbilt University; 2014. [cited 2019 Nov 22]. Available from: http://etd.library.vanderbilt.edu/available/etd-10262014-201331/ ;.

Council of Science Editors:

Malinowski JR. Women's Health: Genetic Variation in Complex Traits. [Doctoral Dissertation]. Vanderbilt University; 2014. Available from: http://etd.library.vanderbilt.edu/available/etd-10262014-201331/ ;

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