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个人简介
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.
研究兴趣
论文共 369 篇作者统计合作学者相似作者
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Gerda E. Breitwieser,Andrea Cippitelli, Yingcai Wang,Oliver Pelletier, Ridge Dershem,Jianning Wei,Lawrence Toll, Bianca Fakhoury,Gloria Brunori,Raghu Metpally,David J. Carey,Janet Robishaw
The Journal of Neuroscience (2024)
Genetics in Medicine Openpp.101846, (2024)
GENETICS IN MEDICINEno. 3 (2024): 101042-101042
Kelvin C. de Andrade,Natasha T. Strande,Jung Kim,Jeremy S. Haley,Jessica N. Hatton,Megan N. Frone,Payal P. Khincha, Gretchen M. Thone,Uyenlinh L. Mirshahi, Cynthia Schneider,Heena Desai, James T. Dove,
HUMAN GENETICS AND GENOMICS ADVANCESno. 1 (2024): 100242-100242
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,
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JVS - Vascular Scienceno. Suppl_1 (2023): 100164-100164
Albert Henry, Xiaodong Mo,Chris Finan,Mark D. Chaffin,Doug Speed, Hanane Issa,Spiros Denaxas,James S. Ware,Sean L. Zheng,Anders Malarstig,Jasmine Gratton, Isabelle Bond,
medRxiv (Cold Spring Harbor Laboratory) (2023)
Patrick R Lawler,Garen Manvelian, Alida Coppi,Amy Damask,Michael N Cantor,Manuel A R Ferreira,Charles Paulding,Nilanjana Banerjee,Dadong Li, Susan Jorgensen,Richa Attre,David J Carey,
Critical care explorationsno. 11 (2023): e0997-e0997
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Joseph Deng,Burak Altintas, Jeremy Haley,Jung Kim,David J. Carey,Douglas R. Stewart,Lisa J. McReynolds
JOURNAL OF CLINICAL ONCOLOGYno. 16 (2023)
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Diseases of the colon and rectum (2023)
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