Bionano – Optical Mapping

Bionano Optical Mapping can be used for the detection of large structural variants (> 500 bp) in eukaryotic genomes and the improvement of de novo genome assemblies.

It requires extremely pure and high molecular weight (> 150 kb) DNA, which requires isolation with undefinedspecial protocols. Purified DNA is labeled with a fluorescence dye, which binds to specific short nucleotide sequences. This results in a unique fluorescence pattern for each individual genome, like a barcode (s. Fig. 1).

Comparison of these barcodes among different samples, e.g. in human trio analysis for the detection of rare genetic disorders, enables the detection of large structural variants. Because the nucleotide sequences of the labeled DNA stretches are known, it is also possible to align the optical mapping against an assembled genome in order to arrange contigs and obtain an improved genome assembly.

Currently, the GTL does not offer DNA extraction according to Bionano standards. However, we are happy to quantify your extracted DNA, perform fluorescence labeling (undefinedDLS labeling) and load the Bionano Saphyr system for you. Of course, data analysis with the Bionano Access Software is possible as well.

Fig. 1: Alignment of fluorescent labeled DNA fragments of one sample

Head of GTL

Prof. Dr. Karl Köhrer

Biologisch-Medizinisches Forschungszentrum (BMFZ) Heinrich-Heine-Universität Düsseldorf Universitätsstr. 1 40225 Düsseldorf
Phone +49 211 81-13165
Fax +49 211 81-11922
Responsible for the content: E-MailRedaktionsteam BMFZ