Utility and Outcomes of the 2019 American College of Medical Genetics and Genomics–Clinical Genome Resource Guidelines for Interpretation of Copy Number Variants with Borderline Classifications at an Academic Clinical Diagnostic Laboratory

Drackley, Andy; Brew, Casey; Wlodaver, Alissa; Spencer, Sara; Leuer, Katrin; Rathbun, Pamela; Charrow, Joel; Wieneke, Xuwen; Yap, Kai Lee; Ing, Alexander

doi:10.1016/j.jmoldx.2022.06.005

The Journal of Molecular Diagnostics

2022

DOI: 10.1016/j.jmoldx.2022.06.005

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Utility and Outcomes of the 2019 American College of Medical Genetics and Genomics–Clinical Genome Resource Guidelines for Interpretation of Copy Number Variants with Borderline Classifications at an Academic Clinical Diagnostic Laboratory

Andy Drackley

Casey Brew

Alissa Wlodaver

et al.

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Cited by 2 publications

References 49 publications

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Utility and Outcomes of the 2019 American College of Medical Genetics and Genomics–Clinical Genome Resource Guidelines for Interpretation of Copy Number Variants with Borderline Classifications at an Academic Clinical Diagnostic Laboratory

Cited by 2 publications

References 49 publications

The uncertainty of copy number variants: pregnancy decisions and clinical follow-up

The uncertainty of copy number variants: pregnancy decisions and clinical follow-up

Correspondence on “Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen)” by Riggs et al

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