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Breakpoint Analysis Method for Structural Variant Calling Improves Diagnostic Yield of Ophthalmology Genetic Testing

ARVO 2025

The Association for Research in Vision and Ophtamology

Salt Lake City, UT,  May 4-8 , 2025

Poster presentation: Breakpoint Analysis Method for Structural Variant Calling Improves Diagnostic Yield of Ophthalmology Genetic Testing

Authors: Sánchez-Navarro I, Andreevskaya M, Kämpjärvi K, von Nandelstadh P, Yan Mak K, Casanovas Palau S, Valeiras B, Ahvenainen T, Känsäkoski J, Muona M, Koskinen L, Pietilä T, Djupsjöbacka J, Kytölä V, Valori M, Myllykangas S, Salmenperä P, Tuupanen S, Koskenvuo J

Medical Specialty: Genetics, Ophtamology

Disclaimer: One or more of the authors of this publication were employed at the time by BluePrint Genetics, a subsidiary of Quest Diagnostics.

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