基本信息
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Bio
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 350 篇Author StatisticsCo-AuthorSimilar Experts
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The Journal of Hand Surgery (2024)
Courtney E West, uyenlinh A mirshahi,Katherine S Ruth, Luke N Sharp, Ankit M Arni,Clare Turnbull,Caroline Wright,Bijay Vaidya, Martina M Owens,David J Carey,Kashyap A Patel
crossref(2024)
medrxiv(2024)
Journal of Neuroscienceno. 19 (2024): e1226232024-e1226232024
Jack A. Kosmicki,Anthony Marcketta,Deepika Sharma,Silvio Alessandro Di Gioia, Samantha Batista, Xiao-Man Yang,Gannie Tzoneva,Hector Martinez,Carlo Sidore,Michael D. Kessler,Julie E. Horowitz,Genevieve H. L. Roberts,Anne E. Justice,Nilanjana Banerjee,Marie V. Coignet,Joseph B. Leader,Danny S. Park,Rouel Lanche,Evan Maxwell,Spencer C. Knight,Xiaodong Bai,Harendra Guturu,Asher Baltzell,Ahna R. Girshick,Shannon R. McCurdy,Raghavendran Partha,Adam J. Mansfield,David A. Turissini, Miao Zhang,Joelle Mbatchou,Kyoko Watanabe,Anurag Verma,Giorgio Sirugo,Marylyn D. Ritchie,William J. Salerno,Alan R. Shuldiner,Daniel J. Rader,Tooraj Mirshahi,Jonathan Marchini,John D. Overton,David J. Carey,Lukas Habegger,Jeffrey G. Reid,Aris Economides,Christos Kyratsous,Katia Karalis,Alina Baum,Michael N. Cantor,Kristin A. Rand,Eurie L. Hong,Catherine A. Ball,Katherine Siminovitch,Aris Baras,Goncalo R. Abecasis,Manuel A. R. Ferreira
Nature geneticsno. 8 (2024): 1592-1596
Rachel M Hendricks,Jung Kim,Jeremy S Haley, Mark Louie Ramos,Uyenlinh L Mirshahi,David J Carey, Douglas R Stewart,Lisa J McReynolds
Bloodno. Supplement 1 (2024): 444-444
Jonas Ghouse,Gardar Sveinbjornsson,Marijana Vujkovic,Anne-Sofie Seidelin,Helene Gellert-Kristensen,Gustav Ahlberg,Vinicius Tragante, Soren A. Rand,Joseph Brancale,Silvia Vilarinho,Pia Rengtved Lundegaard,Erik Sorensen,Christian Erikstrup,Mie Topholm Bruun,Bitten Aagaard Jensen,Soren Brunak,Karina Banasik,Henrik Ullum,Niek Verweij,Luca Lotta,Aris Baras,Tooraj Mirshahi,David J. Carey,David E. Kaplan,Julie Lynch,Timothy Morgan,Tae-Hwi Schwantes-An,Daniel R. Dochtermann,Saiju Pyarajan,Philip S. Tsao,Triin Laisk,Reedik Magi,Julia Kozlitina,Anne Tybjaerg-Hansen,David Jones,Kirk U. Knowlton,Lincoln Nadauld,Egil Ferkingstad,Einar S. Bjornsson,Magnus O. Ulfarsson,Arni Sturluson,Patrick Sulem,Ole B. Pedersen,Sisse R. Ostrowski,Daniel F. Gudbjartsson,Kari Stefansson,Morten Salling Olesen,Kyong-Mi Chang,Hilma Holm,Henning Bundgaard,Stefan Stender
NATURE GENETICSno. 5 (2024)
Genetics in Medicine Open (2024): 101846
Alicia Huerta-Chagoya,Philip Schroeder,Ravi Mandla, Jiang Li, Lowri Morris, Maheak Vora, Ahmed Alkanaq,Dorka Nagy,Lukasz Szczerbinski,Jesper G S Madsen,Silvia Bonàs-Guarch, Fanny Mollandin,Joanne B Cole,Bianca Porneala,Kenneth Westerman,Josephine H Li,Toni I Pollin,Jose C Florez,Anna L Gloyn,David J Carey,Inês Cebola,Uyenlinh L Mirshahi,Alisa K Manning, Aaron Leong,Miriam Udler,Josep M Mercader
Nature geneticsno. 11 (2024): 2370-2379
Michael R Sargen,Jung Kim,Jeremy S Haley, Hayley P Barker,Piyushkumar A Mundra,Mandy L Ballinger,David M Thomas,David J Carey,Alisa M Goldstein,Douglas R Stewart
Genetics in medicine open (2024): 101895-101895
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Author Statistics
#Papers: 347
#Citation: 19074
H-Index: 73
G-Index: 131
Sociability: 8
Diversity: 4
Activity: 95
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