Jacob J. Hughey - researchr alias

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Viewing Publication 1 - 5 from 5

2022

The phers R package: using phenotype risk scores based on electronic health records to study Mendelian disease and rare genetic variantsLayla Aref, Lisa Bastarache, Jacob J. Hughey. bioinformatics, 38(21):4972-4974, October 2022. [doi]

Cox regression is robust to inaccurate EHR-extracted event time: an application to EHR-based GWASRebecca Irlmeier, Jacob J. Hughey, Lisa Bastarache, Joshua C. Denny, Qingxia Chen. bioinformatics, 38(8):2297-2306, 2022. [doi]

2021

The risks of using the chi-square periodogram to estimate the period of biological rhythmsMichael C. Tackenberg, Jacob J. Hughey. ploscb, 17(1), 2021. [doi]

2019

Improving the phenotype risk score as a scalable approach to identifying patients with Mendelian diseaseLisa Bastarache, Jacob J. Hughey, Jeffrey A. Goldstein, Julie A. Bastraache, Satya Das, Neil Charles Zaki, Chenjie Zeng, Leigh Anne Tang, Dan M. Roden, Joshua C. Denny. jamia, 26(12):1437-1447, 2019. [doi]

2016

Is the crowd better as an assistant or a replacement in ontology engineering? An exploration through the lens of the Gene OntologyJonathan M. Mortensen, Natalie Telis, Jacob J. Hughey, Hua Fan-Minogue, Kimberly Van Auken, Michel Dumontier, Mark A. Musen. jbi, 60:199-209, 2016. [doi]

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