P576: Recalibration of scoring metrics to assess the pathogenicity of constitutional copy number variants (CNVs)*

• Emily Spector,
• Erica Andersen,
• John Herriges,
• Anne Higgins,
• Brynn Levy,
• Ludmila Matyakhina,
• Christa Martin,
• Daniel Pineda-Alvarez,
• Lina Shao,
• Shashirekha Shetty,
• Andrea Vaags,
• Erik Thorland,
• Sung-Hae Kang,
• Chelsea Lowther,
• Dominic McMullan,
• Erin Riggs

Affiliations

Emily Spector

Autism & Developmental Medicine Institute, Geisinger, Danville, PA

Erica Andersen

ARUP Laboratories, University of Utah, Salt Lake City, UT

John Herriges

Department of Pathology and Laboratory Medicine, Children's Mercy Kansas City, Kansas City, MO

Anne Higgins

Cytogenetics and Genomics, Quest Diagnostics, Marlborough, MA

Brynn Levy

Columbia University Irving Medical Center, New York, NY

Ludmila Matyakhina

GeneDx, Gaithersburg, MD

Christa Martin

Autism & Developmental Medicine Institute, Geisinger, Danville, PA

Daniel Pineda-Alvarez

Invitae, San Francisco, CA

Lina Shao

Department of Pathology, University of Michigan, Ann Arbor, MI

Shashirekha Shetty

Case Western Reserve University, Cleveland, OH

Andrea Vaags

Trillium Health Partners, Mississauga, Ontario, CA and University of Toronto, Toronto, Ontario, CA

Erik Thorland

Department of Laboratory Medicine and Pathology, Mayo Clinic

Sung-Hae Kang

Department of Pathology and Laboratory Medicine, University of California, Los Angeles, Los Angeles

Chelsea Lowther

Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA

Dominic McMullan

West Midlands Regional Genetics Service, Birmingham Women's and Children's NHS Foundation Trust

Erin Riggs

Autism & Developmental Medicine Institute, Geisinger, Danville, PA