Bionano Genomics and its Users Present the Saphyr System for Optical Genome Mapping and Various Advancements in Clinical Variant Detection at AMP 2020 - Seite 2
AMP 2020 Abstracts/Posters – On-Demand
TT34: Optical Mapping Enables High-Throughput Analysis of Pathogenic Repeats
Ernest Lam, Ph.D., Senior Manager, Bioinformatics, Bionano Genomics
Repetitive elements are abundant and diverse in the human genome. They are also genetically unstable. Repeat expansions and contractions could impact protein structure and gene regulation. They
underlie disorders such as facioscapulohumeral muscular dystrophy (FSHD) and amyotrophic lateral sclerosis (ALS). However, sequence analysis of these regions can be challenging. Clinical
laboratories often rely on Southern blotting, which is labor-intensive and typically requires radioactive staining. Optical mapping with Bionano Genome Imaging provides an alternative
high-throughput workflow that overcomes these limitations.
About Bionano Genomics
Bionano is a genome analysis company providing tools and services based on its Saphyr system to scientists and clinicians conducting genetic research and patient testing, and providing diagnostic
testing for those with autism spectrum disorder (ASD) and other neurodevelopmental disabilities through its Lineagen business. Bionano’s Saphyr system is a platform for ultra-sensitive and
ultra-specific structural variation detection that enables researchers and clinicians to accelerate the search for new diagnostics and therapeutic targets and to streamline the study of changes in
chromosomes, which is known as cytogenetics. The Saphyr system is comprised of an instrument, chip consumables, reagents and a suite of data analysis tools, and genome analysis services to provide
access to data generated by the Saphyr system for researchers who prefer not to adopt the Saphyr system in their labs. Lineagen has been providing genetic testing services to families and their
healthcare providers for over nine years and has performed over 65,000 tests for those with neurodevelopmental concerns. For more information, visit www.bionanogenomics.com or www.lineagen.com.
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