We’re on a mission to transform the way the world sees the genome. By combining the best-in-class analysis software of BioDiscovery with the structural variant detection power of optical genome mapping, we’re equipping cytogeneticists with efficient, consolidated workflows that can help reveal more genetic variation that matters.
Let’s solve real challenges in biology and medicine together.
| Time | Title | Authors |
|---|---|---|
| 10:30 - 10:45 am | Comparative Benchmarking of Optical Genome Mapping to Chromosomal Microarray Reveals High Technological Concordance in CNV Identification and Additional Structural Variant Refinement | Andy Wing Chun Pang, Hayk Barseghyan, Alka Chaubey, Alex Hastie |
| 10:45 - 11:00 am | Optical Genome Mapping as a Potential Tier1 Test for Postnatal Chromosomal Disorders – Results of Multi-Institutional Validation Study of 331 Retrospective Clinical Samples | M. Anwar Iqbal, Ulrich Broeckel, Brynn Levy, Steven Skinner, Nikhil Sahajpal, Vanessa Rodriguez, Aaron Stence, Kamel Awayda, Gunter Scharer, Cindy Skinner, Roger Stevenson, Aaron Bossler, Peter L. Nagy, Ravindra Kolhe |
| 11:00-11:15 am | Optical Genome Mapping for Prenatal Diagnostic Testing | Nikhil Sahajpal, Ashis K Mondal, Timothy Fee, Alex Hastie, Alka Chaubey, Barbara R DuPont, Ravindra Kolhe |
| 11:15-11:30 am | Optical Genome Mapping Analysis of FMR1 Expansions in Fragile X Syndrome | Hayk Barseghyan, Martin Muggli, Bahar Ramandi, Neil Miller, Dong Zhang, Ernest T Lam, Jian Wang, Tom Wang, Joyce Lee, Andy WC Pang, Henry B Sadowski, Alex R Hastie, Mark Oldakowski |
| 11:30-11:45 am | Optical Genome Mapping Workflow for Identification and Annotation of Variants in Hematological Malignancy | Benjamin Clifford, Jen Hauenstain, Andy Wing Chun Pang, Alka Chaubey, Alex R. Hastie |
| 11:45 am – 12:00 pm | Capture-Based Transcriptome Sequencing (RNA-Seq) and Optical Genome Mapping (OGM) Enhance Detection of Newly Described Molecular Subtypes of Pediatric B-lymphoblastic Leukemia (B-ALL) | Gordana Raca, Alexandra E. Kovach, Andrew Doan, Dejerianne Ostrow, Venkata Yellapantula, Jianling Ji, Ryan Schmidt, Jaclyn A. Biegel, Deepa Bhojwani |
Tools for analysis of detected genomic scars associated with homologous recombination deficiency (HRD) continue to evolve. Don’t miss Dr. Soheil Shams’ scientific presentation detailing the development of new genomic scar analysis.
The latest NxClinical software 6.2 release adds three measures of genomic instability for homologous recombination repair deficiency (HRD) in solid tumors:
Analytical Tools to Support Detection of Homologous Recombination Deficiency (HRD) Using
Cytogenomic Scar Markers
GDA-Cyto: Infinium Arrays Propel Cytogenomics Laboratories to New Heights
Collaboration is the driver behind the new Illumina InfiniumTM Global Diversity Array with Cytogenetics Content (GDA-Cyto) coupled with Bionano’s NxClinical analysis software. The GDA-Cyto offers genome-wide coverage at exon resolution across high-value clinical regions enabling laboratories to review cases faster and remain more economical than current workflows. Learn more about this new array platform and software offering during this co-presented ACC exhibitor spotlight.
