Author

Siddharth Sethi

UCL Queen Square Institute of NeurologyORCID 0000-0002-4398-4295Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Bioinformatics· 2 Genetics· 1

Signature Assays, Organisms & Methods

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Assay:bulk RNA-seq· 3 Organism:human· 3 Research Focus:differential expression· 2 Approach:machine learning (classical)· 2 Research Focus:benchmarking· 1 Research Focus:database / resource· 1 Research Focus:gene regulatory network inference· 1 Approach:statistical model· 1

Frequent Co-Authors

David ZhangiD· 3 shared Mina RyteniD· 3 shared Sonia García-RuiziD· 3 shared Emil Karl GustavssoniD· 2 shared Harpreet Kaur SainiiD· 2 shared Henry HouldeniD· 2 shared Juan Antonio BotíaiD· 2 shared Regina Hertfelder ReynoldsiD· 2 shared

Activity by Year

2021-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 44 mutual co-author links

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3 shared papersBioinformatics

David ZhangORCID

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3 papers

Recent·Most cited

The annotation and function of the Parkinson's and Gaucher disease-linked gene GBA1 has been concealed by its protein-coding pseudogene GBAP1

Emil Karl Gustavsson, Siddharth Sethi, Yujing Gao, Jonathan Brenton, Sonia García-Ruiz, David Zhang, Raquel Garza, Regina Hertfelder Reynolds, James R. Evans, Zhongbo Chen, Melissa Grant‐Peters, Hannah L. Macpherson, Kylie Montgomery, Rhys Dore, Anna I. Wernick, , Mina Ryten

The paper shows that sequencing ambiguity between GBA1 and its pseudogene GBAP1 affects transcriptomic analysis, revealing non-lysosomal functions in the brain and widespread annotation inaccuracies.

Science Advances · Jun 26, 2024Peer-reviewedGenetics

Leveraging omic features with F3UTER enables identification of unannotated 3'UTRs for synaptic genes

Siddharth Sethi, David Zhang, Sebastian Guelfi, Zhongbo Chen, Sonia García-Ruiz, Emmanuel O. Olagbaju, Mina Ryten, Harpreet Kaur Saini, Juan Antonio Botía

The paper identifies 1,513 unannotated 3'UTRs across 39 human tissues using a machine learning framework, highlighting their enrichment in brain and synaptic function.

Nature Communications · Apr 27, 2022Peer-reviewedBioinformatics

Detection of pathogenic splicing events from RNA-sequencing data using dasper

David Zhang, Regina Hertfelder Reynolds, Sonia García-Ruiz, Emil Karl Gustavsson, Siddharth Sethi, Sara Aguti, Inês A. Barbosa, Jack J. Collier, Henry Houlden, Robert McFarland, Francesco Muntoni A, Monika Oláhová, Joanna Poulton, Michael A. Simpson, Robert D. S. Pitceathly, , Mina Ryten

This paper introduces dasper, an R/Bioconductor package that detects pathogenic splicing events from RNA-sequencing data with higher accuracy than existing methods.

bioRxiv · Mar 29, 2021 · PreprintBioinformatics