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

AEGH Congress 2026

Asociación Española de Genética Humana, V Congreso Interdisciplinar en Genética Humana 

Granada, Spain, April 15-17, 2026

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

Authors: Baquero Vaquer A,Sanchez-Navarro I, Pérez-Carro R, Andreevskaya M, Kämpjärv Ki, von Nandelstadh P, Casanovas Palau S, Valeiras B, Ahvenainen T, Känsäkoski J, Muona M, Pietilä T, Djupsjöbacka J, Kytölä V, Salmenperä P,  Koskinen L, Koskenvuo J,  Valori M,Tuupanen S

Medical Specialty: Genetics, Ophthalmology

 

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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