Next Generation Cytogenetics

Human hereditary material is stored in 23 pairs of chromosomes. Although those chromosomes are quite stable, changes in number or structure can still occur. All these aberrations in the chromosomes can cause disease.Cytogenetics is the genetic discipline that examines chromosomes for such abnormalities. Most standard techniques (so called karyotyping, FISH and CNV-microarrays) can only visualize a part of the abnormalities or only with a limited resolution. Recently a new technique has become available - Optical Genome Mapping (OGM) – which can enable the detection of both the large and small changes. Recent research shows that OGM detects cytogenetic aberrations very quickly, effectively and accurately. Sometimes even better than all existing techniques together, as described in two proof-of-concept studies in which several consortium members of X-omics partner Radboudumc (Human Genetics department) were involved. Both proof-of-concept studies have been published in the American Journal of Human Genetics:“Next generation cytogenetics: comprehensive assessment of 52 hematological malignancy genomes by optical genome mapping” –

“Optical genome mapping enables constitutional chromosomal aberration detection” –

Interested to use Optical Genome Mapping in your own research? Early access to this technique is available for individual collaborative research projects within the X-omics research infrastructure using the Saphyr Optical Genome Mapping instrument of Bionano Genomics.  For more information contact our helpdesk:  

NWO logoThis research was (partially) funded by NWO, project 184.034.019