• Application

  • Implementation


Sanford Burnham Prebys Medical Discovery Institute
Dr. Darren "Ben" Finlay & Dr. Rabi Murad
Functional Genomics Center Zurich
Dr. Lucy Poveda
Recent workflow advances from Bionano Genomics
Genomic insights revealed by optical mapping the 3q29 deletion interval
Uncovering the precise genomic location of inversion events using optical mapping
Going beyond a single human reference. Lessons learned from sequencing over 20 genomes.
Applications of whole genome imaging in translational research
Making the right call for structural variants interpretation using artificial intelligence and OM
Bionano mapping for evaluation of structural variants in genetic diseases
Optical mapping for chromosomal abnormalities. A pilot study for feasibility study for clinical use.
Characterization of clinically relevant repeats in the human genome
A novel molecular diagnostic tool for comprehensive assessment of structural chromosomal variations in Myelodysplastic Syndromes
Whole genome imaging to streamline cancer cytogenetics and identify novel rearrangements and biomarkers
High resolution view of D4Z4 repeat regions for studying FSHD using Bionano whole genome optical mapping