Optical genome mapping enables accurate testing of large repeat expansions.

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Bibliographic Details
Title: Optical genome mapping enables accurate testing of large repeat expansions.
Authors: van der Sanden B; Department of Human Genetics, Research Institute for Medical Innovation, Radboud University Medical Center, 6525GA Nijmegen, the Netherlands., Neveling K; Department of Human Genetics, Research Institute for Medical Innovation, Radboud University Medical Center, 6525GA Nijmegen, the Netherlands., Shukor S; Bionano Genomics Clinical and Scientific Affairs, San Diego, California 92101, USA., Gallagher MD; Bionano Genomics Clinical and Scientific Affairs, San Diego, California 92101, USA., Lee J; Bionano Genomics Clinical and Scientific Affairs, San Diego, California 92101, USA., Burke SL; Bionano Genomics Clinical and Scientific Affairs, San Diego, California 92101, USA., Pennings M; Department of Human Genetics, Research Institute for Medical Innovation, Radboud University Medical Center, 6525GA Nijmegen, the Netherlands., van Beek R; Department of Human Genetics, Research Institute for Medical Innovation, Radboud University Medical Center, 6525GA Nijmegen, the Netherlands., Oorsprong M; Department of Human Genetics, Research Institute for Medical Innovation, Radboud University Medical Center, 6525GA Nijmegen, the Netherlands., Kater-Baats E; Department of Human Genetics, Research Institute for Medical Innovation, Radboud University Medical Center, 6525GA Nijmegen, the Netherlands., Kamping E; Department of Human Genetics, Research Institute for Medical Innovation, Radboud University Medical Center, 6525GA Nijmegen, the Netherlands., Tieleman AA; Department of Neurology, Radboud University Medical Center, 6525GA Nijmegen, the Netherlands., Voermans NC; Department of Neurology, Radboud University Medical Center, 6525GA Nijmegen, the Netherlands., Scheffer IE; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, VIC 3084, Australia.; Department of Pediatrics, University of Melbourne, Royal Children's Hospital, Florey and Murdoch Children's Research Institutes, VIC 3052, Melbourne, Australia., Gecz J; South Australian Health and Medical Research Institute, Adelaide, SA 5000, Australia.; Genetics and Molecular Pathology, SA Pathology, Adelaide, SA 5000, Australia.; Robinson Research Institute and Adelaide Medical School, University of Adelaide, Adelaide, SA 5000, Australia., Corbett MA; Robinson Research Institute and Adelaide Medical School, University of Adelaide, Adelaide, SA 5000, Australia., Vissers LELM; Department of Human Genetics, Research Institute for Medical Innovation, Radboud University Medical Center, 6525GA Nijmegen, the Netherlands., Pang AWC; Bionano Genomics Clinical and Scientific Affairs, San Diego, California 92101, USA., Hastie A; Bionano Genomics Clinical and Scientific Affairs, San Diego, California 92101, USA., Kamsteeg EJ; Department of Human Genetics, Research Institute for Medical Innovation, Radboud University Medical Center, 6525GA Nijmegen, the Netherlands; erik-jan.kamsteeg@radboudumc.nl alexander.hoischen@radboudumc.nl., Hoischen A; Department of Human Genetics, Research Institute for Medical Innovation, Radboud University Medical Center, 6525GA Nijmegen, the Netherlands; erik-jan.kamsteeg@radboudumc.nl alexander.hoischen@radboudumc.nl.; Department of Internal Medicine, Radboud Expertise Center for Immunodeficiency and Autoinflammation and Radboud Center for Infectious Disease (RCI), Radboud University Medical Center, 6525GA Nijmegen, the Netherlands.
Source: Genome research [Genome Res] 2025 Apr 14; Vol. 35 (4), pp. 810-823. Date of Electronic Publication: 2025 Apr 14.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Cold Spring Harbor Laboratory Press Country of Publication: United States NLM ID: 9518021 Publication Model: Electronic Cited Medium: Internet ISSN: 1549-5469 (Electronic) Linking ISSN: 10889051 NLM ISO Abbreviation: Genome Res Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1549-5469
DOI:10.1101/gr.279491.124