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Quest Diagnostics Patient Service Centers will have modified hours during the holiday season.

  • Closing early at 12:00pm on December 24, 2025
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  • Closed on January 1, 2026


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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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