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

Spector, E., Andersen, E., Herriges, J., Higgins, A., Levy, B., Matyakhina, L., Martin, C., Pineda-Alvarez, D., Shao, L., Shetty, S., Vaags, A., Thorland, E., Kang, S.-H., Lowther, C., McMullan, D., & Riggs, E. (2024). P576: Recalibration of scoring metrics to assess the pathogenicity of constitutional copy number variants (CNVs)*. Genetics in Medicine Open, 2, 101482. https://doi.org/10.1016/j.gimo.2024.101482
Authors:
Emily Spector
Erica Andersen
John Herriges
Anne W. Higgins
Brynn Levy
Ludmila Matyakhina
Christa Lese Martin
Daniel Pineda‐Alvarez
Lina Shao
Shashirekha Shetty
Andrea K. Vaags
Erik C. Thorland
Sung‐Hae L. Kang
Chelsea Lowther
Dominic McMullan
Erin Rooney Riggs
Affiliated Authors:
Brynn Levy
Publication Type:
Article
Unique ID:
10.1016/j.gimo.2024.101482
Publication Date:
Data Source:
OpenAlex

Record Created: