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
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