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Otago University-led research delivers more certainty for genetic test diagnoses

Genetics Otago co-director Associate Professor Logan Walker has led an international study, which also includes Genetics Otago member Dr George Wiggins, to improve RNA diagnostics for laboratories worldwide.

You can read more about this breakthrough on the Otago Bulletin.

Publication details

Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: recommendations from the ClinGen SVI Splicing Subgroup

Logan C. Walker, Miguel de la Hoya, George A.R. Wiggins, Amanda Lindy, Lisa M. Vincent, Michael T Parsons, Dafodil M Canson, Dana Bis-Brewer, Ashley Cass, Alexander Tchourbanov, Heather Zimmermann, Alicia B Byrne, Tina Pesaran, Rachid Karam, Steven Harrison, and Amanda B Spurdle
The American Journal of Human Genetics, Vol. 110, No. 7, pp.1046-1067, July 06, 2023

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