P614: The importance of alternative transcript analysis in rare disease diagnosis: A case series

Genetics in Medicine Open 2026 Open access

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Authors: Casie A. Genetti, Katherine Anderson, Tabitha Poorvu, Elicia A. Estrella, Regina Laine, Catherine A. Brownstein, Jimmy Ly, Iain M. Cheeseman, Alan H. Beggs, Vijay Ganesh, Monica H. Wojcik
DOI: 10.1016/j.gimo.2026.104104
Cited by: 0

Abstract

Alternative transcripts present a unique challenge in genetic variant interpretation. Although the canonical transcript is generally considered the most biologically relevant and is used by default in many annotation and interpretation pipelines, alternative transcripts can also have clinical significance and warrant consideration when assessing variant pathogenicity.

Fields of Study & Subjects

Genomics and Rare Diseases RNA Research and Splicing Genetic Associations and Epidemiology

Publication details

Journal / source
Genetics in Medicine Open
Volume
4
Pages
104104–104104
Publication date
1 January 2026
Language
EN