Author

Carl Spickett

MaRSORCID 0000-0002-6832-0161Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Organism:human· 2 Assay:bulk RNA-seq· 1 Approach:deep learning· 1 Assay:DNA methylation· 1 Research Focus:drug response / drug discovery· 1 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Approach:statistical model· 1

Frequent Co-Authors

Amit G. DeshwariD· 2 shared Brendan J. Frey· 2 shared Frank W. Schmitges· 2 shared Ken J. KroniD· 2 shared Marta Verby· 2 shared Shreshth GandhiiD· 2 shared Solomon Grant· 2 shared Zvi ShaleviD· 2 shared

Activity by Year

2020-2023 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersBioinformatics

Amit G. DeshwarORCID

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Author profile →

2 papers

Recent·Most cited

An RNA foundation model enables discovery of disease mechanisms and candidate therapeutics

Albi Celaj, Alice Jiexin Gao, Tammy Lau, Erle M. Holgersen, Alston Lo, Varun Lodaya, Christopher B. Cole, Robert Edward Denroche, Carl Spickett, Omar Wagih, Pedro O. Pinheiro, Parth Vora, Pedrum Mohammadi‐Shemirani, Steve Chan, Zach Nussbaum, , Brendan J. Frey

The paper introduces BigRNA, an RNA foundation model that predicts RNA biology from DNA sequence and identifies therapeutic effects of SBOs on gene expression and splicing.

bioRxiv · Sep 20, 2023 · PreprintBioinformatics

ATP7B Variant c.1934T>G p.Met645Arg Causes Wilson Disease by Promoting Exon 6 Skipping

Daniele Merico, Carl Spickett, Matthew O’Hara, Boyko Kakaradov, Amit G. Deshwar, Phil Fradkin, Shreshth Gandhi, Jiexin Gao, Solomon Grant, Ken J. Kron, Frank W. Schmitges, Zvi Shalev, Mark Sun, Marta Verby, Matthew Cahill, , Brendan J. Frey

This paper shows that the ATP7B variant c.1934T>G causes exon 6 skipping, leading to loss of function and confirming its pathogenicity in Wilson Disease.

npj Genomic Medicine · Apr 8, 2020Peer-reviewedGenetics