Detection of Constitutional Structural Variants by Optical Genome Mapping: A Multisite Study of Postnatal Samples. J Mol Diagn 2024 Mar;26(3):213-226
Date
01/12/2024Pubmed ID
38211722DOI
10.1016/j.jmoldx.2023.12.003Scopus ID
2-s2.0-85185462108 (requires institutional sign-in at Scopus site) 11 CitationsAbstract
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).
Author List
Broeckel U, Iqbal MA, Levy B, Sahajpal N, Nagy PL, Scharer G, Rodriguez V, Bossler A, Stence A, Skinner C, Skinner SA, Kolhe R, Stevenson RAuthor
Ulrich Broeckel MD Chief, Center Associate Director, Professor in the Pediatrics department at Medical College of WisconsinMESH terms used to index this publication - Major topics in bold
Chromosome MappingHumans
Infant, Newborn
Prospective Studies
Retrospective Studies
