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Recalibration of Scoring Metrics to Assess the Pathogenicity of Constitutional Copy Number Variants (CNVs)

ACMG Annual Clinical Genetics Meeting, 2024

American College of Medical Genetics and Genomics

Toronto, Canada, March 12-16, 2024

Poster presentation: Recalibration of Scoring Metrics to Assess the Pathogenicity of Constitutional Copy Number Variants (CNVs)

Authors: Spector E, Andersen EF, Herriges J, Higgins AW, Kang S-HL, Levy B, Lowther C,  Matyakhina L, Lese Martin C, McMullan DJ, Pineda-Alvarez D, Shao L, Shetty S, Vaags AK, Thorland EC, Rooney Riggs E

Specialty: Genetics

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