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Clinical Utility of Structural Variant Calling Using Breakpoint Analysis Method for Targeted NGS Gene Panels

ACMG Annual Clinical Genetics Meeting, 2024

American College of Medical Genetics and Genomics

Toronto, Canada, March 12-16, 2024

Poster presentation: Clinical utility of structural variant calling using breakpoint analysis method for targeted NGS gene panels

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.