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Optical Genome Mapping Enables Constitutional Chromosomal Aberration Detection

Tuomo Mantere,Kornelia Neveling,Celine Pebrel-Richard,Marion Benoist,Guillaume van der Zande,Ellen Kater-Baats,Imane Baatout,Ronald van Beek,Tony Yammine,Michiel Oorsprong, Faten Hsoumi,Daniel Olde-Weghuis,Wed Majdali,Susan Vermeulen,Marc Pauper,Aziza Lebbar,Marian Stevens-Kroef,Damien Sanlaville,Jean Michel Dupont,Dominique Smeets,Alexander Hoischen,Caroline Schluth-Bolard,Laila El Khattabi

AMERICAN JOURNAL OF HUMAN GENETICS（2021）

Cited 129|Views35
Key words
structural variants,chromosomal aberration,breakpoint characterization,karyotyping,optical genome mapping,OGM,constitutional aberrations,cytogenetics,CNV microarray,FISH
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