Author

Jonathan Gunti

Northwestern University

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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Genetics· 2 Bioinformatics· 1 Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Assay:whole-exome sequencing· 3 Approach:statistical model· 2 Research Focus:variant effect prediction· 2 Research Focus:differential expression· 1 Assay:DNA methylation· 1 Approach:experimental assay· 1 Approach:machine learning (classical)· 1

Frequent Co-Authors

Gemma L. CarvilliD· 3 shared Jeffrey Dennis CalhouniD· 3 shared Heather C. MeffordiD· 2 shared Miriam C. AziziD· 2 shared Aaron M Geller· 1 shared Aishwarya RamamurthyiD· 1 shared Alina Izabela EsterhuizeniD· 1 shared Andrea AccogliiD· 1 shared

Activity by Year

2021-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 25 mutual co-author links

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3 shared papersGenetics

Gemma L. CarvillORCID

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Author profile →

4 papers

Recent·Most cited

EpiPred: A gene-specific machine learning model for classifying missense variants in the epilepsy-related gene STXBP1

Jeffrey Dennis Calhoun, Chengbing Wang, Carina G Biar, Jonathan Gunti, John S. Lee, Aaron M Geller, Jung Hwa Hong, Santiago D. Schnell, Louis T. Dang, Yu Wang, Jack M. Parent, Lori L. Isom, Michael D. Uhler, Heather C. Mefford, Margaret Elizabeth Ross, , Gemma L. Carvill

EpiPred improves STXBP1 variant interpretation, enabling precision genetic diagnoses and promoting access to targeted precision therapies.

bioRxiv · Aug 9, 2025 · PreprintGenetics

Towards increased accuracy and reproducibility in SARS-CoV-2 next generation sequence analysis for public health surveillance

Ryan P. Connor, Migun Shakya, David A. Yarmosh, Wolfgang Maier, Ross Martin, Rebecca Bradford, James Rodney Brister, Patrick Chain, Courtney A. Copeland, Julia di Iulio, Bin Hu, Philip J. Ebert, Jonathan Gunti, Yumi Jin, Kenneth Katz, , Kim D. Pruitt

This study evaluates the impact of sequencing technologies and bioinformatic protocols on SARS-CoV-2 variant calling and introduces standardized parameters to improve pipeline consistency.

Viruses · Mar 11, 2024Peer-reviewedBioinformatics

Precision medicine for developmental and epileptic encephalopathies in Africa: strategies for a resource-limited setting.

Alina Izabela Esterhuizen, Nicki Tiffin, Gillian Tracy Riordan, Marie Wessels, Richard Joseph Burman, Miriam C. Aziz, Jeffrey Dennis Calhoun, Jonathan Gunti, Ezra E. Amiri, Aishwarya Ramamurthy, Michael J. Bamshad, Suzanne M. Leal, Deborah A. Nickerson, Peter Anderson, Tamara J. Bacus, , Gemma L. Carvill

The paper identifies genetic variants in South African children with developmental and epileptic encephalopathies and proposes a 'Think-Genetics' strategy for early genetic diagnosis in resource-limited settings.

Genetics in Medicine · Dec 8, 2022Peer-reviewedGenetic & Genomic Medicine

Determining pathogenicity of variants of uncertain significance and identification of a founder variant in the epilepsy-associated gene, SZT2

Jeffrey Dennis Calhoun, Miriam C. Aziz, Hannah C. Happ, Jonathan Gunti, Colleen Gleason, Najma Mohamed, Kristy Zeng, Meredith Hiller, Emily M. Bryant, Divakar S. Mithal, Irena I. Bellinski, Lisa M. Kinsley, Mona Grimmel, Eva Maria Christina Schwaibold, Constance L. Smith‐Hicks, , Gemma L. Carvill

The paper identifies a founder variant in SZT2 associated with neurodevelopmental disorder and develops a method to distinguish pathogenic variants from VUSs in SZT2.

Brain · Dec 16, 2021Peer-reviewedGenetics