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Full Characterization of Unresolved Structural Variation Through Long-Read Sequencing and Optical Genome Mapping

Griet De Clercq,Lies Vantomme,Barbara Dewaele,Bert Callewaert,Olivier Vanakker,Sandra Janssens,Bart Loeys,Mojca Strazisar,Wouter De Coster,Joris Robert Vermeesch,Annelies Dheedene,Bjoern Menten

SCIENTIFIC REPORTS（2024）

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关键词
Long-read sequencing,Optical genome mapping,Structural variation,Clinical genomics,Chromothripsis,Complex genomic rearrangements
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