Past Crew Member: Nicole A. Restrepo, PhD, MS

Previous Positions

Crawford Graduate Student (2010-2015)

Post-Doctoral Fellow at Case Western Reserve University (2015-2017)

Bioinformatics Staff Scientist, Geisinger Health System (2017-2018)

Statistical genetics consultant, Decibel Therapeutics (2019-2020)

Current Position

Genomics Scientist, Seven Bridges (2020-present)

Research Interests

Nicole’s graduate research was focused on identifying genetic variation and genetic and environmental modifiers contributing to ocular disease (age-related macular degeneration, diabetic retinopathy, and glaucoma) in diverse populations. More broadly, Nicole’s research interests include statistical and bioinformatic approaches to the analysis of genetic and environmental data, gene-gene and gene-environment interactions, inclusion of underrepresented populations in biomedical research, and personalized medicine.

Recent Publications

  1. Zheutlin, AB, Dennis, J, Karlsson Linnér, R, Moscati, A, Restrepo, N, Straub, P, Ruderfer, D, Castro, VM, Chen, CY, Ge, T et al.. Penetrance and Pleiotropy of Polygenic Risk Scores for Schizophrenia in 106,160 Patients Across Four Health Care Systems. Am J Psychiatry 2019; 176 (10): 846-855. PubMed PMID:31416338 PubMed Central PMC6961974.
  2. Restrepo, NA, Laper, SM, Farber-Eger, E, Crawford, DC. Local genetic ancestry in CDKN2B-AS1 is associated with primary open-angle glaucoma in an African American cohort extracted from de-identified electronic health records. BMC Med Genomics 2018; 11 (Suppl 3): 70. PubMed PMID:30255811 PubMed Central PMC6157155.
  3. Crawford, DC, Restrepo, NA, Diggins, KE, Farber-Eger, E, Wells, QS. Frequency and phenotype consequence of APOC3 rare variants in patients with very low triglyceride levels. BMC Med Genomics 2018; 11 (Suppl 3): 66. PubMed PMID:30255797 PubMed Central PMC6156840.
  4. Hollister, BM, Restrepo, NA, Farber-Eger, E, Crawford, DC, Aldrich, MC, Non, A. DEVELOPMENT AND PERFORMANCE OF TEXT-MINING ALGORITHMS TO EXTRACT SOCIOECONOMIC STATUS FROM DE-IDENTIFIED ELECTRONIC HEALTH RECORDS. Pac Symp Biocomput 2017; 22 : 230-241. PubMed PMID:27896978 PubMed Central PMC5147499.
  5. Restrepo, NA, Butkiewicz, M, McGrath, JA, Crawford, DC. Shared Genetic Etiology of Autoimmune Diseases in Patients from a Biorepository Linked to De-identified Electronic Health Records. Front Genet 2016; 7 : 185. PubMed PMID:27812365 PubMed Central PMC5071319.
  6. Restrepo, NA, Farber-Eger, E, Crawford, DC. Searching in the Dark: Phenotyping Diabetic Retinopathy in a De-Identified Electronic Medical Record Sample of African Americans. AMIA Jt Summits Transl Sci Proc 2016; 2016 : 221-30. PubMed PMID:27570675 PubMed Central PMC5001772.
  7. Butkiewicz, M, Restrepo, NA, Haines, JL, Crawford, DC. DRUG-DRUG INTERACTION PROFILES OF MEDICATION REGIMENS EXTRACTED FROM A DE-IDENTIFIED ELECTRONIC MEDICAL RECORDS SYSTEM. AMIA Jt Summits Transl Sci Proc 2016; 2016 : 33-40. PubMed PMID:27570646 PubMed Central PMC5001747.
  8. Laper, SM, Restrepo, NA, Crawford, DC. THE CHALLENGES IN USING ELECTRONIC HEALTH RECORDS FOR PHARMACOGENOMICS AND PRECISION MEDICINE RESEARCH. Pac Symp Biocomput 2016; 21 : 369-80. PubMed PMID:26776201 PubMed Central PMC4720980.
  9. Dumitrescu, L, Restrepo, NA, Goodloe, R, Boston, J, Farber-Eger, E, Pendergrass, SA, Bush, WS, Crawford, DC. Towards a phenome-wide catalog of human clinical traits impacted by genetic ancestry. BioData Min 2015; 8 : 35. PubMed PMID:26566401 PubMed Central PMC4642611.
  10. Restrepo, NA, Farber-Eger, E, Goodloe, R, Haines, JL, Crawford, DC. Extracting Primary Open-Angle Glaucoma from Electronic Medical Records for Genetic Association Studies. PLoS One 2015; 10 (6): e0127817. PubMed PMID:26061293 PubMed Central PMC4465698.
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