Maximizing the Detection of Copy Number Variants in the Highly Homologous Deafness-Infertility Syndrome Locus in Standard-of-care Testing.

Autor: Luo M; Department of Pathology and Laboratory Medicine, Division of Genomic Diagnostics, Children's Hospital of Philadelphia, United States.; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, United States., Conlin LK; Department of Pathology and Laboratory Medicine, Division of Genomic Diagnostics, Children's Hospital of Philadelphia, United States.; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, United States., Rajagopalan R; Department of Pathology and Laboratory Medicine, Division of Genomic Diagnostics, Children's Hospital of Philadelphia, United States.; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, United States.
Jazyk: angličtina
Zdroj: Clinical chemistry [Clin Chem] 2023 May 12. Date of Electronic Publication: 2023 May 12.
DOI: 10.1093/clinchem/hvad044
Databáze: MEDLINE
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