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Assessing the Clinical Utility of a Breakpoint Analysis Method in Identification of Structural Variants in Targeted Sequencing Genetic Tests

ESHG 2024

European Society for Human Genetics

Berlin, Germany, June 1-4, 2024

Poster presentation: Assessing the Clinical Utility of a Breakpoint Analysis Method in Identification of Structural Variants in Targeted Sequencing Genetic Tests

Authors: Andreevskaya M, Muona M, Koskinen L*, Pietilä T, Djupsjöbacka J, Kytölä V, Kämpjärvi K, Myllykangas S, Salmenperä P, Koskenvuo J, Valori M

Specialty: Genetics

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