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

Journal Article Maximizing the Detection of Copy Number Variants in the Highly Homologous Deafness-Infertility Syndrome Locus in Standard-of-care Testing Get access Minjie Luo, Minjie Luo Department of Pathology and Laboratory Medicine, Division of Genomic Diagnostics, Children's Hospital of Philadelphia, United StatesDepartment of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, United States Address correspondence to this author at: Division of Genomic Diagnostics, The Children’s Hospital of Philadelphia, 3615 Civic Center Blvd, ARC 716D, Philadelphia, PA 19104, United States. E-mail luom@chop.edu. https://orcid.org/0000-0002-5788-3962 Search for other works by this author on: Oxford Academic Google Scholar Laura K Conlin, Laura K Conlin Department of Pathology and Laboratory Medicine, Division of Genomic Diagnostics, Children's Hospital of Philadelphia, United StatesDepartment of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, United States Search for other works by this author on: Oxford Academic Google Scholar Ramakrishnan Rajagopalan Ramakrishnan Rajagopalan Department of Pathology and Laboratory Medicine, Division of Genomic Diagnostics, Children's Hospital of Philadelphia, United StatesDepartment of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, United States Search for other works by this author on: Oxford Academic Google Scholar Clinical Chemistry, Volume 69, Issue 6, June 2023, Pages 545–547, https://doi.org/10.1093/clinchem/hvad044 Published: 12 May 2023 Article history Received: 27 March 2023 Accepted: 31 March 2023 Published: 12 May 2023