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Detection of Constitutional Structural Variants by Optical Genome Mapping: A Multisite Study of Postnatal Samples.
Broeckel, Ulrich; Iqbal, M Anwar; Levy, Brynn; Sahajpal, Nikhil; Nagy, Peter L; Scharer, Gunter; Rodriguez, Vanessa; Bossler, Aaron; Stence, Aaron; Skinner, Cindy; Skinner, Steven A; Kolhe, Ravindra; Stevenson, Roger.
Affiliation
  • Broeckel U; Section of Genomic Pediatrics, Department of Pediatrics, Medical College of Wisconsin, Milwaukee, Wisconsin.
  • Iqbal MA; DNA Microarray CGH Laboratory, Department of Pathology, University of Rochester Medical Center, Rochester, New York.
  • Levy B; Columbia University Medical Center, New York, New York.
  • Sahajpal N; Greenwood Genetic Center, Greenwood, South Carolina.
  • Nagy PL; Columbia University Medical Center, New York, New York.
  • Scharer G; Section of Genomic Pediatrics, Department of Pediatrics, Medical College of Wisconsin, Milwaukee, Wisconsin.
  • Rodriguez V; Praxis Genomics, Atlanta, Georgia.
  • Bossler A; H. Lee Moffitt Cancer Center, Tampa, Florida.
  • Stence A; University of Iowa Hospitals and Clinics, Iowa City, Iowa.
  • Skinner C; Greenwood Genetic Center, Greenwood, South Carolina.
  • Skinner SA; Greenwood Genetic Center, Greenwood, South Carolina.
  • Kolhe R; Department of Pathology, Medical College of Georgia, Augusta University, Augusta, Georgia. Electronic address: rkolhe@augusta.edu.
  • Stevenson R; Greenwood Genetic Center, Greenwood, South Carolina. Electronic address: 1974rest@gmail.com.
J Mol Diagn ; 26(3): 213-226, 2024 03.
Article in En | MEDLINE | ID: mdl-38211722
ABSTRACT
Optical genome mapping is a high-resolution technology that can detect all types of structural variations in the genome. This second phase of a multisite study compares the performance of optical genome mapping and current standard-of-care methods for diagnostic testing of individuals with constitutional disorders, including neurodevelopmental impairments and congenital anomalies. Among the 627 analyses in phase 2, 405 were of retrospective samples supplied by five diagnostic centers in the United States and 94 were prospective samples collected over 18 months by two diagnostic centers (June 2021 to October 2022). Additional samples represented a family cohort to determine inheritance (n = 119) and controls (n = 9). Full concordance of results between optical genome mapping and one or more standard-of-care diagnostic tests was 98.6% (618/627), with partial concordance in an additional 1.1% (7/627).
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Prospective Studies Type of study: Diagnostic_studies Limits: Humans / Newborn Language: En Journal: J Mol Diagn Journal subject: BIOLOGIA MOLECULAR Year: 2024 Document type: Article
Fulltext
Add to My VHL
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Prospective Studies Type of study: Diagnostic_studies Limits: Humans / Newborn Language: En Journal: J Mol Diagn Journal subject: BIOLOGIA MOLECULAR Year: 2024 Document type: Article