• Application

  • Implementation

Publications

CSH Molecular Case Studies 2020
Ng J et al
Chromosome Research 2020
Balachandran P. et al
Computational and Structural Biotechnology Journal 2020
Bizjan B. et al
Molecular and Cellular Endocrinology 2018
Barseghyan H et al
Genome Research 2017
McCaffrey J et al
Genome Research (2014); 24: 2066-2076 
Steinberg, K. et al.
BioMed Central Genomics (2014); 15(July 2014): 387 
O’Bleness, M., et al.

Videos

Unraveling complex structural variant patterns in cancer using optical mapping...
Towards high quality reference assemblies for all vertebrate genomes
Bionano data solutions to power your next discovery
Identifying structure of human papillomavirus genomes in head and neck...
Bionano optical mapping, in combination with other sequencing-based technologies, to...
Reference quality genomes of bats to illuminate the genomic determinants...
Improvements of North American catfish genome assemblies with optical mapping.
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...
Going beyond a single human reference. Lessons learned from sequencing...
Applications of whole genome imaging in translational research
Making the right call for structural variants interpretation using artificial...
Bionano mapping for evaluation of structural variants in genetic diseases
Optical mapping for chromosomal abnormalities. A pilot study for feasibility...
Characterization of clinically relevant repeats in the human genome
A novel molecular diagnostic tool for comprehensive assessment of structural...
Whole genome imaging to streamline cancer cytogenetics and identify novel...
High resolution view of D4Z4 repeat regions for studying FSHD...
Advanced analysis of risk loci in congenital disorders using Bionano...
Resolving complex genomic haplotypes in neurodegenerative disorders using Bionano Genomics...
Dr. Sven Bocklandt details the Saphyr Genome Imaging System's SV...
Dr. Hoischen reviews his work using Bionano digital cytogenetics applications
Dr. Kanagal-Shamanna shares how Saphyr technology detected novel structural variants...
Dr. Brynn Levy shares how Saphyr technology accurately detected clinical...
Overview of Bionano’s whole genome imaging technology.
Dr. Hastie reviews Bionano Saphyr's genome assembly capabilities at the...
Dr. Bocklandt reviews new developments in Bionano optical mapping and...
Dr. El Khattabi discusses Saphyr's ability to detect balanced and...
Dr. Hoischen discusses the assessment of Bionano Saphyr as a...

Webinars

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 will not be able to characterize them properly. Optical mapping is an efficient way to identify large structural variations, determine their breakpoints, and place large insertions uniquely in the genome. Optical mapping can be applied successfully in the molecular diagnosis of rare genetic diseases by performing fine karyotyping, copying number analysis, and breakpoint analysis of microdeletion syndromes.

In this Clinical OMICs webinar, we will hear how NGS has failed to live up to the promise of identifying large structural variations that result in rare genetic disorders when they disrupt key genes or change their dosage in the genome. Dr. Pui-Yan Kwok from the University of California, San Francisco, will demonstrate how optical mapping has consistently proven to be an accurate and efficient way to identify large structural variations, determine their breakpoints, and place with visual clarity large insertions uniquely within the genome.

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 will discuss his team’s work toward identifying functional structural mutations that drive disease in order to facilitate a meaningful therapy and pre-symptomatic disease diagnostic.

Some of the genes and regions implicated in Alzheimer’s disease are genomically complex and cannot be resolved with short-read sequencing technologies. These regions include MAPT, CR1, and the histocompatibility complex (including the HLA genes).

Dr. Ebbert will share now the Saphyr system from Bionano Genomics resolves full haplotypes for these complex Alzheimer’s disease regions, as well as regions directly involved in other diseases, including amyotrophic lateral sclerosis (ALS), frontotemporal dementia (FTD), and Parkinson’s disease.

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

Posters

November 18, 2020
Association for Molecular Pathology 2020, Virtual Conference
February, 2020
AGBT 2020, Marco Island, Florida
February, 2018
Advances in Genome Biology and Technology, Orlando, Fl
February, 2018
Advances in Genome Biology and Technology, Orlando, Fl
May, 2017
European Society of Human Genetics Annual Meeting, Copenhagen, Denmark
May, 2017
European Society of Human Genetics Annual Meeting, Copenhagen, Denmark
March, 2017
ACMG Annual Clinical Genetics Meeting, Phoenix, Arizona
February, 2017
Advances in Genome Biology and Technology 2017 General Meeting, Hollywood, FL
February, 2017
Advances in Genome Biology and Technology 2017 General Meeting, Hollywood, FL
January, 2017
Plant and Animal Genome Conference XXV, San Diego, CA
January, 2017
Plant and Animal Genome Conference XXV, San Diego, CA
October, 2016
American Society of Human Genetics, San Diego, CA
March, 2016
Annual Clinical Genetics Meeting, Tampa, FL
February, 2016
Advances in Genome Biology and Technology, Orlando, FL
February, 2016
Advances in Genome Biology and Technology, Orlando, FL
January, 2016
Plant and Animal Genome Conference XVII, San Diego, CA
January, 2016
Plant and Animal Genome Conference XVII, San Diego, CA
January, 2016
Plant and Animal Genome Conference XVII, San Diego, CA
January, 2016
Plant and Animal Genome Conference XVII, San Diego, CA
January, 2016
Plant and Animal Genome Conference XVII, San Diego, CA
October, 2015
American Society of Human Genetics, Baltimore, MD
October, 2015
American Society of Human Genetics, Baltimore, MD
October, 2015
American Society of Human Genetics, Baltimore, MD
October, 2015
American Society of Human Genetics, Baltimore, MD
October, 2015
American Society of Human Genetics, Baltimore, MD
May 2015 / June 2015
Biology of Genomes / European Society of Human Genetics, Cold Spring Harbor, NY (USA) / Glasgow (UK)
May 2015 / June 2015
Biology of Genomes / European Society of Human Genetics, Cold Spring Harbor, NY (USA) / Glasgow (UK)
May 2015 / June 2015
Biology of Genomes / European Society of Human Genetics, Cold Spring Harbor, NY (USA) / Glasgow (UK)
April 2015 / June 2015
American Association for Cancer Research / European Society of Human Genetics, Philadelphia, PA (USA) / Glasgow (UK)
February, 2015
Advances in Genome Biology and Technology, Marco Island, FL
February, 2015
Advances in Genome Biology and Technology, Marco Island, FL
February, 2015
Advances in Genome Biology and Technology, Marco Island, FL
January, 2015
Plant and Animal Genome XXIII, San Diego, CA
January, 2015
Plant and Animal Genome XXIII, San Diego, CA
January, 2015
Plant and Animal Genome XXIII, San Diego, CA
November, 2014
Precision Medicine: Personal Genomes & Pharmacogenomics, Cold Spring Harbor, NY
October, 2014
Beyond the Genome, Boston, MA
October, 2014
American Society of Human Genetics, San Diego, CA
October, 2014
American Society of Human Genetics, San Diego, CA
October, 2014
American Society of Human Genetics, San Diego, CA
October, 2014
American Society of Human Genetics, San Diego, CA
September, 2014
Human Genome Variation, Belfast, Ireland
June, 2014
European Society of Human Genetics, Milan, Italy
June, 2014
European Society of Human Genetics, Milan, Italy
May, 2014
Sequencing, Finishing, Analysis in the Future, Santa Fe, NM
May, 2014
Sequencing, Finishing, Analysis in the Future, Santa Fe, NM
February, 2014
Advances in Genome Biology and Technology, Marco Island, FL
January, 2014
Plant and Animal Genome Conference XVII, San Diego, CA
November, 2013
Precision Medicine: Personal Genomes & Pharmacogenomics, Cold Spring Harbor, NY
January, 2013
Plant and Animal Genome Conference XXI, San Diego, CA
November, 2012
American Society of Human Genetics, San Francisco, CA

Literature

case studies

This Case Study demonstrates the power of combining 2 single molecule technologies to produce Gold-quality genomes. Those allow the discovery of substantial amount of structural variation unique to individuals and populations otherwise not accessed by other short-read technologies.

case studies

This Case Study highlights Scientists at the USDA and Cold Spring Harbor Laboratory who know that better breeding of maize to feed a growing population will depend on an accurate reference assembly. They tackled the previously intractable crop with a combination of PacBio® Sequencing and BioNano Genomics®genome maps, leading to the first-ever high-quality reference assembly.

case studies

Scientists at Rutgers University, Washington University, and Ibis Biosciences successfully deployed Next-Generation Mapping (NGM) technology from Bionano Genomics to help produce the first complete assembly for a fast-growing aquatic plant with biofuel potential. What emerged is a clear view into a genome undergoing drastic reduction and a tool to elucidate chromosome-scale dynamics.