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Webinar Archive

Baylor College of Medicine
Christopher M. Grochowski

Genomic inversions are a class of DNA structural variation (SV) that usually present with two breakpoints and subsequent 180-degree longitudinal turn of DNA. Though challenging to detect and resolve using current genomic assays, inversions are relevant in evolution, speciation, and human disease pathogenesis through positional effects, gene interruptio...

University of California, San Francisco
Pui-Yan Kwok, MD, PhD, Professor

Structural variations result in rare genetic disorders when they disrupt key genes or change their dosage in the genome. Short-read sequencing approaches can detect deletions but are less useful in identifying and localizing insertions in the genome. When the structural variations are large or in complex regions, even long-read sequencing approaches wi...

Augusta University
Nikhil S. Sahajpal, PhD.

Nikhil S. Sahajpal, PhD, Augusta University – Presentation at the 2020 Cancer Genomics Consortium virtual meeting on whole genome optical mapping as a tool for next-generation cytogenomics.

Mayo Clinic
Dr. Mark T. W. Ebbert

Alzheimer’s disease is genetically complex with no meaningful therapies or pre-symptomatic disease diagnostics. Most of the genes implicated in Alzheimer’s disease do not have a known functional mutation, meaning there are no known molecular mechanisms to help understand disease etiology.

In this webinar, Mark T. W. Ebbert of the Mayo Clinic wil...

August 26, 2020 at 8:00A PDT | 11:00A EDT | 5:00P CET
If you are unable to attend the webinar, register to receive the recorded version for viewing at a later time.
Radboud Medical Center, Nijmegen, The Netherlands
Alexander Hoischen, PhD

Cytogenetics with 500,000 “bands”

~ 10,000 Improved Sensitivity!

  • Genomewide analysis
  • Positional information
  • Single molecule resolution
Children's National Medical Center
Dr. Hayk Barseghyan

You have a lot of great genomics data – so, what’s next?

In this webinar, we will explore tools and methods to analyze structural variation and demonstrate how to cut through the noise.

Genome imaging with Bionano’s Saphyr generates high quality structural variation calls for less than $500 per sample, with up to 99% sensitivi...

University of California, San Diego
Dr. Vineet Bafna

Oncogene amplification, a major driver of cancer pathogenicity, is often mediated through focal amplification of genomic segments. Recent results implicate extrachromosomal DNA (ecDNA) as the primary driver of focal copy number amplification (fCNA) – enabling gene amplification, rapid tumor evolution, and the rewiring of regulatory circuitry. Res...

Virtual Genetics Week 2020
Dr. Sven Bocklandt

The diagnostic yield in genetic disease has seen very little improvement over the last few decades, despite the introduction of whole genome sequencing.

The Bionano Genomics platform for genome imaging offers an extremely long-read technology, providing unmatched sensitivity and specificity to detect structural variation, genome-wide, at low cos...

Paris Descartes University / Radboud Medical Center
Laila El Khattabi, PharmD PhD | Alexander Hoischen, PhD

Structural variants (SVs) are an important source of genetic variation in the human genome and they are involved in a multitude of human diseases as well as cancer. SVs are enriched in repeat-rich regions of the human genome, and several remain undetected by conventional short-read sequencing technologies. Here we applied Bionano Genomics’ high-resolut...

Penn State Health
Dr. Brandon LaBarge

Whole genome imaging using the Saphyr instrument from Bionano detects structural variants (SVs), such as insertions, deletions, and translocations, not readily evident from standard methods of whole genome analysis. This technology is particularly useful for detecting large (>500bp) and complex SVs that are difficult to detect using traditional shor...