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Optical genome mapping enables constitutional chromosomal aberration detection

Tuomo Mantere, Kornelia Neveling, Céline Pebrel‐Richard, Marion Benoist, Guillaume van de 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, Laïla El Khattabi

2021The American Journal of Human Genetics254 citationsDOIOpen Access PDF

Topics & Concepts

BiologyComparative genomic hybridizationGenomeCopy-number variationGeneticsBreakpointIsochromosomeKaryotypeHuman genomeChromosomal translocationDNA microarrayChromosomeComputational biologyGene duplicationCytogeneticsCopy number analysisGeneGene expressionGenomic variations and chromosomal abnormalitiesChromosomal and Genetic VariationsPrenatal Screening and Diagnostics
Optical genome mapping enables constitutional chromosomal aberration detection | Litcius