Structural variations result in rare genetic disorders when they disrupt key genes or change their dosage in the genome. Short-read sequencing approaches can detect deletions but are less useful in identifying and localizing insertions in the genome. When the structural variations are large or in complex regions, even long-read sequencing approaches will not be able to characterize them properly. Optical mapping is an efficient way to identify large structural variations, determine their breakpoints, and place large insertions uniquely in the genome. Optical mapping can be applied successfully in the molecular diagnosis of rare genetic diseases by performing fine karyotyping, copying number analysis, and breakpoint analysis of microdeletion syndromes.
In this Clinical OMICs webinar, we will hear how NGS has failed to live up to the promise of identifying large structural variations that result in rare genetic disorders when they disrupt key genes or change their dosage in the genome. Dr. Pui-Yan Kwok from the University of California, San Francisco, will demonstrate how optical mapping has consistently proven to be an accurate and efficient way to identify large structural variations, determine their breakpoints, and place with visual clarity large insertions uniquely within the genome.
Nikhil S. Sahajpal, PhD, Augusta University – Presentation at the 2020 Cancer Genomics Consortium virtual meeting on whole genome optical mapping as a tool for next-generation cytogenomics.
Alzheimer’s disease is genetically complex with no meaningful therapies or pre-symptomatic disease diagnostics. Most of the genes implicated in Alzheimer’s disease do not have a known functional mutation, meaning there are no known molecular mechanisms to help understand disease etiology.
In this webinar, Mark T. W. Ebbert of the Mayo Clinic will discuss his team’s work toward identifying functional structural mutations that drive disease in order to facilitate a meaningful therapy and pre-symptomatic disease diagnostic.
Some of the genes and regions implicated in Alzheimer’s disease are genomically complex and cannot be resolved with short-read sequencing technologies. These regions include MAPT, CR1, and the histocompatibility complex (including the HLA genes).
Dr. Ebbert will share now the Saphyr system from Bionano Genomics resolves full haplotypes for these complex Alzheimer’s disease regions, as well as regions directly involved in other diseases, including amyotrophic lateral sclerosis (ALS), frontotemporal dementia (FTD), and Parkinson’s disease.
Cytogenetics with 500,000 “bands”
~ 10,000 Improved Sensitivity!
- Genomewide analysis
- Positional information
- Single molecule resolution