Bionano Genomics Announces Record Number of Presentations on Optical Genome Mapping and Structural Variation at the 2021 Annual Clinical Genetics Meeting of the ACMG - Seite 2

eP436 – Identification of Structural Variation in Constitutional Disorders by Optical Genome Mapping

eP406 – Optical Genome Mapping Enables Constitutional Chromosomal Aberration Detection: Proof-of-Principle Study with 85 Samples

eP294 – High Throughput Analysis of Disease Repeat Expansions and Contractions by Optical Mapping

eP447 – Improving and Accelerating Clinical Molecular Diagnosis of Severe Hemophilia A with Optical Genome Mapping Technology

eP370 – Fascioscapulohumeral Muscular Dystrophy Genetic Testing by Optic Mapping

Solid Tumors Poster Presentations:

• eP083 – Clinical Utility of Optical Genome Mapping (OGM) in Cytogenetic Analysis of Brain Tumors
  
  
• eP388 – Optical Genomic Mapping Reveals Balanced and Unbalanced Cytogenetic Findings Associated with Tumor-forming Potential in a Prostate Cancer Cell line (M2205)
  

Other Bionano Poster Presentations:

• eP407 – NeuroSCORE: A Genome-wide OMICs Based Model to Identify Disease Associated Genes of the Central Nervous System
  
  
• eP365 – PRKX/PRKY-Mediated Xp;Yp Translocations: A Significant Contributor to SRY-Positive 46,XX TDSD and Potential Risk of Recurrence in Common Yp Inversion Carriers
  

More details can be found at https://www.acmgmeeting.net/acmg2021/Public/mainhall.aspx

About the ACMG Meeting

The ACMG Meeting is the genetics meeting most focused specifically on the practical applications of genetic discoveries to clinical medicine. Topics range from common conditions to rare diseases. The ACMG Annual Meeting attracts medical and scientific leaders from around the world who are working to apply research in genetics and the human genome to the diagnosis, management, treatment and prevention of genetic conditions and rare and common diseases in patients in the clinical setting.

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 research use only 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. Bionano provides 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.