2021 ACMG Annual Clinical Genetics Meeting - Product Theaters-Next-Generation Cytogenomic Characterization of Prenatal Cases by Optical Genome Mapping

Next-Generation Cytogenomic Characterization of Prenatal Cases by Optical Genome Mapping

Video Transcription

Video Summary

In this video, Alex Hastie, the Vice President of Clinical Affairs at BioNanogenomics, introduces the BioNanogenomics technology for optical genome mapping. He explains the history of chromosomal studies and the limitations of current technologies in detecting genetic disorders and abnormalities. He then describes the technology's foundation, which uses a nanochannel array to linearize long DNA molecules. The DNA molecules are labeled with fluorophores, allowing for the recognition of specific parts of the genome. The technology, called SAFIRE, can detect a wide range of structural variations, including insertions, deletions, duplications, translocations, and inversions. It can also detect balanced structural variants like ring chromosomes and copy number variations such as deletions and duplications. The workflow starts with the isolation of high molecular weight DNA, followed by labeling and data collection using the SAFIRE chip. The DNA molecules are then processed and analyzed to detect structural and copy number variations. The technology was validated through a study of 19 samples, demonstrating 100% concordance with karyotyping, FISH, and chromosomal microarrays. The technology offers several advantages, including reduced hands-on time, faster turnaround time, and cost-effectiveness compared to current methods. The presenter also acknowledges collaborators and invites viewers to posters on the utility of optical genome mapping in the prenatal setting and brain tumors.

Asset Subtitle

BioNano Genetics

Keywords

BioNanogenomics

optical genome mapping

chromosomal studies

genetic disorders

DNA molecules

structural variations

copy number variations