Author

Charles Wade

UCL Queen Square Institute of NeurologyORCID 0000-0001-5199-7566Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Approach:experimental assay· 1 Organism:human· 1 Assay:long-read sequencing· 1 Assay:scRNA-seq· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Claire AndersoniD· 1 shared David S. LynchiD· 1 shared Emil Karl GustavssoniD· 1 shared Emma L. WakelingiD· 1 shared Emma M. ClementiD· 1 shared Hannah L. MacphersoniD· 1 shared Henry HouldeniD· 1 shared James E. DavisoniD· 1 shared

Activity by Year

2026-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Claire AndersonORCID

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1 paper

Recent·Most cited

Genetic & Genomic MedicineGenome MedicinePeer-reviewedSep 9, 2026

RAPID: A Targeted Long-Read RNA Workflow for Functional Resolution of Splicing Variants in Rare Disease

Kylie Montgomery, Hannah L. Macpherson, Claire Anderson…·Mina Ryten

RAPID uses targeted long-read RNA sequencing to resolve splice variants in rare disease cases, providing functional evidence for diagnosis and variant interpretation.

2 citationstop 2%

humanlong-read sequencing

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