Next-Generation Mapping: Detecting Unbalanced and Balanced Structural Variants

4 July 2019

In this video, Dr. Laïla El Khattabi, Associate Professor, APHP Cochin, Paris Descartes University, discusses the use of next-generation mapping using Bionano Genomic’s novel, non-sequencing-based technology and how this enables the identification of structural variants (SVs) within the human genome that can be missed by current massively parallel sequencing methods.

Through a study of 29 patients in a routine cytogenetic laboratory setting, the data presented here demonstrates the potential to improve the resolution of the pan-genome detection of different sorts of SVs in a simple, comprehensive test. This approach could have a significant clinical impact on SV-associated diseases, such as developmental disorders, as well as reproductive diseases and recurrent miscarriages.