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.
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
November 18, 2020
Association for Molecular Pathology 2020, Virtual Conference
November 18, 2020
Association for Molecular Pathology 2020, Virtual Conference
February, 2020
AGBT 2020, Marco Island, Florida
February, 2020
AGBT 2020, Marco Island, Florida
September, 2019
AGBT Precision Health, San Diego, CA
September, 2019
AGBT Precision Health, San Diego, CA
September, 2019
AGBT Precision Health, San Diego, CA
February, 2018
Advances in Genome Technology and Biology, Orlando, Fl
February, 2018
Advances in Genome Biology and Technology, Orlando, Fl
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
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
January, 2107
Plant and Animal Genome Conference XXV, San Diego, CA
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, Vancouver, Canada
October, 2016
American Society of Human Genetics, Vancouver, Canada
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
Biophysical Society, Baltimore, MD
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
September, 2014
Plant Genomics, St. Loius, MO
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
May, 2014
Biology of Genomes, Cold Spring Harbor, NY
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
May, 2013
Sequencing, Finishing, Analysis in the Future, Santa Fe, NM
February, 2013
Advances in Genome Biology and Technology, Marco Island, FL
January, 2013
Plant and Animal Genome Conference XXI, San Diego, CA
November, 2012
American Society of Human Genetics, San Francisco, CA
