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
Advanced analysis of risk loci in congenital disorders using Bionano optical genome mapping
Resolving complex genomic haplotypes in neurodegenerative disorders using Bionano Genomics Saphyr System
Dr. Sven Bocklandt details the Saphyr Genome Imaging System's SV detection capabilities in Cancer
The Rockefeller University
Dr. Erich Jarvis
Radbound Medical Center
Dr. Alexander Hoischen, Associate Professor, Genomic Technologies & Immuno-genomics
Dr. Hoischen reviews his work using Bionano digital cytogenetics applications
Dr. Kanagal-Shamanna shares how Saphyr technology detected novel structural variants and complex rearrangements.
Dr. Brynn Levy shares how Saphyr technology accurately detected clinical variants in leukemia.
Overview of Bionano’s whole genome imaging technology.