Author

John H. Newman

Vanderbilt UniversityORCID 0000-0003-1867-9093Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Bioinformatics· 1 Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Research Focus:variant effect prediction· 2 Research Focus:benchmarking· 1 Research Focus:differential expression· 1 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Approach:machine learning (classical)· 1 Approach:statistical model· 1

Frequent Co-Authors

Jens MeileriD· 2 shared John A. CapraiD· 2 shared Joy D. CoganiD· 2 shared Souhrid MukherjeeiD· 2 shared Undiagnosed Diseases Network· 2 shared Bian LiiD· 1 shared Christopher W. MothiD· 1 shared Dan M. RodeniD· 1 shared

Activity by Year

2021-2022 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Jens MeilerORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicineHuman Genetics and Genomics AdvancesPeer-reviewedJul 18, 2022

Personalized structural biology reveals the molecular mechanisms underlying heterogeneous epileptic phenotypes caused by de novo KCNC2 variants

Souhrid Mukherjee, Thomas A. Cassini, Ningning Hu…·John A. Capra

The paper uses personalized structural biology to analyze de novo KCNC2 variants in a DEE patient, revealing distinct functional effects of two nearby variants.

10 citations

humanwhole-exome sequencing

𝕏 PostBluesky

BioinformaticsThe American Journal of Human GeneticsPeer-reviewedSep 15, 2021

Identifying digenic disease genes using machine learning in the undiagnosed diseases network

Souhrid Mukherjee, Joy D. Cogan, John H. Newman…·John A. Capra

This paper introduces DiGePred, a machine learning tool that identifies potential digenic disease gene pairs, achieving high precision and recall in evaluating rare genetic disorders.

49 citationstop 3%

humanmachine learning (classical)

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