Author

Kenneth M. Borthwick

Geisinger Health System

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Bioinformatics· 2 Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Research Focus:GWAS / association mapping· 2 Organism:human· 2 Approach:statistical model· 2 Research Focus:database / resource· 1 Assay:electronic health records· 1 Approach:experimental assay· 1 Research Focus:fine-mapping· 1 Assay:GWAS summary statistics· 1

Frequent Co-Authors

David CarrelliD· 2 shared Erwin P. BöttingeriD· 2 shared Hakon H. HakonarsoniD· 2 shared Joshua C. DennyiD· 2 shared Laura J. Rasmussen-TorvikiD· 2 shared Mariza de AndradeiD· 2 shared Rex L. ChisholmiD· 2 shared Abel KhoiD· 1 shared

Activity by Year

2020-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 35 mutual co-author links

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2 shared papersBioinformatics

David CarrellORCID

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Author profile →

3 papers

Recent·Most cited

COMPREHENSIVE GENETIC INVESTIGATION REVEALS HETEROGENEOUS PATHWAYS TO OBSTRUCTIVE SLEEP APNEA

Anne E. Justice, Brendan T Keenan, Geetha Chittoor, Matthew C. Pahl, Hanne Hoskens, Navya Shilpa Josyula, Shreyash Gupta, Soriul Kim, Guðmar Þorleifsson, Elisabetta Manduchi, Alejandro Gutierrez, Fernando Andrade, Cheryl L. Ackert‐Bicknell, Bryndis Benediktsdottir, Jaime Boero, , Allan I Pack

This study identifies 14 genome-wide significant loci for obstructive sleep apnea, including three independent of BMI, and highlights genetic pathways involving obesity, neurological, and craniofacial factors.

medRxiv · Jan 11, 2026 · PreprintGenetic & Genomic Medicine

Neptune: An environment for the delivery of genomic medicine

Eric Venner, Victoria Yi, David R. Murdock, Sara E. Kalla, Tsung-Jung Wu, Aniko Sabo, Shoudong Li, Qingchang Meng, Tian Xia, Mullai Murugan, Michelle L. Cohen, Christie Kovar, Wei‐Qi Wei, Wendy K. Chung, Chunhua Weng, , Andrea L. Hartzler

Neptune delivers structured genomic data to EHR systems through customizable reports and variant reanalysis, supporting over 15,000 clinical reports.

Genetics in Medicine · Jul 13, 2021Peer-reviewedBioinformatics

Multi-ancestry Genome- and Phenome-wide Association Studies of Diverticular Disease in Electronic Health Records with Natural Language Processing enriched phenotype algorithm

Yoonjung Yoonie Joo, Jennifer A. Pacheco, William K Thompson, Laura J. Rasmussen‐Torvik, Luke V. Rasmussen, Frederick T. J. Lin, Mariza de Andrade, Kenneth M. Borthwick, Erwin P. Böttinger, Andrew Cagan, David Carrell, Joshua C. Denny, Stephen B. Ellis, Omri Gottesman, James G. Linneman, , M. Geoffrey Hayes

This study uses NLP to identify diverticular disease from EHRs and performs GWAS and PheWAS across multiple ancestries to find genetic risk variants and clinical associations.

bioRxiv · Jun 8, 2020 · PreprintBioinformatics