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My research is focused on leveraging the resources provided by the Geisinger MyCode and DiscovEHR projects to study the role of individual genetic variation in health and disease. MyCode is a system-wide biorepository of blood, serum and DNA samples for broad research use that is linkable to Geisinger’s electronic medical record database. By end of 2018 more than 200,000 Geisinger patients consented to participate; enrollment is ongoing. Through the DiscovEHR collaboration with the Regeneron Genetics Center MyCode samples are used to generate whole exome sequence and whole genome genotype data that is linkable to Geisinger’s longitudinal electronic health record database. More than 92,000 samples have been analyzed with a total of 140,000 by early 2019, and a total of 250,000 within the next 3-5 years. This genomic data is used for genetic association or phenome wide association studies using validated phenotype algorithms developed using health record data, thus creating a highly versatile pipeline for genomic discovery. Phenotype-first approaches, which seek to find genetic variants associated with a particular clinical trait, and genotype-first approaches, which identify clinical traits associated with specific gene or variants, are utilized.
Research Interests
Papers共 239 篇Author StatisticsCo-AuthorSimilar Experts
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The Journal of neuroscience : the official journal of the Society for Neuroscienceno. 19 (2024)
Genetics in Medicine Open (2024): 101846
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Genetics in Medicine Openpp.101846, (2024)
DISEASES OF THE COLON & RECTUMno. 2 (2024): 254-263
Michael R Sargen,Jung Kim,Thomas P Potjer, Mary E Velthuizen, Arelis E Martir-Negron, Yazmin Odia,Hildur Helgadottir,Jessica N Hatton,Jeremy S Haley, Gretchen Thone,Brigitte C Widemann,Andrea M Gross,
Critical care explorationsno. 11 (2023): e0997-e0997
Teodora Grigore,Asha Bayliss,Mark Stevenson, Malou Zuidscherwoude,David J. Carey,Jeremy S. Haley,Diane T. Smelser,Hannes Olauson,Joost Hoenderop,Rajesh V. Thakker
Journal of the American Society of Nephrologyno. 11S (2023): 485-485
Michael R. Sargen,Jung Kim,Thomas P. Potjer, Mary E Velthuizen, Arelis Martir-Negron, Yazmín Odia,Hildur Helgadóttir,Jessica N Hatton,Jeremy S. Haley, Gretchen Thone,Brigitte C. Widemann,Andrea M. Gross,
JAMA Dermatologyno. 10 (2023): 1112-1112
medrxiv(2023)
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