Author

Suzanne M. Musgrave

University of AucklandORCID 0009-0003-6006-281XUnclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Molecular Biology· 1

Signature Assays, Organisms & Methods

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

Frequent Co-Authors

Jessie C. JacobseniD· 1 shared Russell G. SnelliD· 1 shared Whitney WhitfordiD· 1 shared

Activity by Year

2026-2026 · peak 1/yr

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3 top collaborators · 3 mutual co-author links

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1 shared paperMolecular Biology

Jessie C. JacobsenORCID

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1 paper

Recent·Most cited

Molecular BiologybioRxivPreprintMay 8, 2026

Protocol for designing and interpreting minigene assays to validate candidate splice altering variants

Whitney Whitford, Suzanne M. Musgrave, Russell G. Snell, Jessie C. Jacobsen

This paper presents a protocol for minigene assays to validate splice-altering variants using locus-specific design, gene synthesis, and long-read sequencing.

DOI 10.64898/2026.05.05.723105

long-read sequencingexperimental assay

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