Author

Joseph S. Leslie

University of ExeterORCID 0000-0003-0972-8818Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Research Focus:benchmarking· 1 Research Focus:database / resource· 1 Research Focus:differential expression· 1 Approach:experimental assay· 1 Organism:human· 1 Assay:proteomics· 1 Approach:statistical model· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Alistair T. PagnamentaiD· 1 shared Carolina Jaramillo OquendoiD· 1 shared Caroline Fiona WrightiD· 1 shared Diana BaralleiD· 1 shared Mwenda R. RintariiD· 1 shared V. Kartik ChundruiD· 1 shared

Activity by Year

2026-2026 · peak 1/yr

Co-Author Collaboration Network

6 top collaborators · 15 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Alistair T. PagnamentaORCID

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1 paper

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintOct 13, 2026

Investigating the pathogenicity of missense spliceogenic variants using whole-genome sequencing, RNA-sequencing, and proteomics data from population and clinical research cohorts

Mwenda R. Rintari, V. Kartik Chundru, Carolina Jaramillo Oquendo…·Caroline Fiona Wright

The paper investigates missense spliceogenic variants (MSVs) using genomic and proteomic data, finding they are common and can cause disease through splicing disruption, often missed by protein-centric tools.

DOI 10.64898/2026.10.09.26365070

humanwhole-genome sequencing

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