Whole Genome Sequencing: is the process of determining the complete DNA sequence of an organism's genome. In order to do so, you must entail all of an organism's chromosomal DNA as well as DNA contained in the mitochondria and, for plants, in the chloroplast.
Advances in DNA sequencing, based upon massively parallel sequencing, has resulted in dramatic advances in DNA sequence output in the past few years. It is now possible to generate terrabases...
Rare disease affects 30 million people in the United States, with nearly 50% of cases affecting children. Because nearly 80% of rare diseases are genetic, advancements in genomic testing are...
Precision medicine based on molecular profiling is moving from the realm of clinical utility studies towards standard of care. There remain, however, significant technological and implementat...
In this presentation I will describe our latest work to obtain comprehensive genomes leveraging long and linked reads. The vast majority of NGS whole-genome data covers hundreds of thousands...
Genomic information has the potential to improve management or potentially prevent or enable early intervention of virtually every disease. However, despite massive technological leaps and ex...
DATE: May 3, 2018TIME: 11:00AM PDT, 2:00PM EDTWhile stress is one of the leading causes of neuropsychiatric disorders, the molecular underpinnings of how stress induces alterations in b...
DATE: April 24, 2018TIME: 8:00AM PSTIn this talk we will cover basic principles of KASP® genotyping chemistry and designing assays that are specific to desired targets. We will go o...
Advancements and innovation in in vitro diagnostic device (IVD) development are important for the success of personalized medicine. This is highlighted by the dramatic increase in the number...
One would think that getting the diagnosis after fifteen years would end the journey. How does your work at the bench affect patients and how can you change lives through cell therapy? ...
Acral lentiginous melanoma (ALM) is a rare sun-shielded melanoma subtype associated with worse survival than cutaneous melanoma (CM), a more common form of skin cancer linked to exposure to u...
Background: In March 2014, a molecular cluster of five multidrug resistant Mycobacterium tuberculosis was detected by the Austrian National Reference Laboratory. An investigation was initiate...
Therapeutic application of pluripotent stem (PS) cell-derived products represents the ultimate goal of stem cell research. In order to apply this technology to patients, it is fundamental to ...
As reprogramming methodologies have become more reliable and efficient, corresponding improvements were needed in the characterization workflow as well; specifically in terms of the speed, ef...
DATE: May 31, 2017TIME: 9:00AM PDT, 12:00PM ETAlthough more remains to be learnt, great advances have recently been made in the understanding of the molecular & genetic bases of dis...
Genetic disease is the leading cause of death for infants in the intensive care units. Traditional testing is too slow to provide physicians a timely diagnosis to help guide the management of...
Genetic testing currently plays a relatively niche role in healthcare, with testing typically limited to single genes and targeting a relatively narrow range of diseases, including paediatric...
A recent clinical trial of the AR inhibitor enzalutamide in patients with TNBC included an exploratory endpoint using RNA sequencing to identify a genomic signature of patients likely to resp...
Clinical whole genome sequencing (cWGS) is rapidly gaining acceptance as cost is decreasing and success rates in identifying disease-causing variants are increasing. While the application of...
Recent advances in DNA sequencing have now made it possible to characterize genomes, transcriptomes and even methylomes which is transforming both basic research and clinical practice. Whole...
DATE: November 16, 2016
TIME: 8:00am PT, 11:00am ET
Breast cancer is the most commonly diagnosed cancer in women and is the second leading cause of cancer death among wo...
Whole genome and exome sequencing is being widely used to identify disease-causing variants in patients with hereditary and rare diseases. Discovering the true disease-causing variants often...
Targeted sequencing assays are increasingly used to identify tumor mutations that guide therapeutic decisions. Interpretation of a cancer variant’s origin and therapeutic impact poses a...
In order to realize the benefits of personalized cancer therapy, increasing demands are placed upon clinical laboratories to provide timely, comprehensive, clinically actionable, and analytic...
DNA methylation is an essential mechanism of epigenetic gene regulation with broad relevance in development and disease. Its localization on genomic DNA and general stability make this epigen...
Advances in DNA sequencing, based upon massively parallel sequencing, has resulted in dramatic advances in DNA sequence output in the past few years. It is now possible to generate terrabases...
Rare disease affects 30 million people in the United States, with nearly 50% of cases affecting children. Because nearly 80% of rare diseases are genetic, advancements in genomic testing are...
Precision medicine based on molecular profiling is moving from the realm of clinical utility studies towards standard of care. There remain, however, significant technological and implementat...
In this presentation I will describe our latest work to obtain comprehensive genomes leveraging long and linked reads. The vast majority of NGS whole-genome data covers hundreds of thousands...
Genomic information has the potential to improve management or potentially prevent or enable early intervention of virtually every disease. However, despite massive technological leaps and ex...
DATE: May 3, 2018TIME: 11:00AM PDT, 2:00PM EDTWhile stress is one of the leading causes of neuropsychiatric disorders, the molecular underpinnings of how stress induces alterations in b...
DATE: April 24, 2018TIME: 8:00AM PSTIn this talk we will cover basic principles of KASP® genotyping chemistry and designing assays that are specific to desired targets. We will go o...
Advancements and innovation in in vitro diagnostic device (IVD) development are important for the success of personalized medicine. This is highlighted by the dramatic increase in the number...
One would think that getting the diagnosis after fifteen years would end the journey. How does your work at the bench affect patients and how can you change lives through cell therapy? ...
Acral lentiginous melanoma (ALM) is a rare sun-shielded melanoma subtype associated with worse survival than cutaneous melanoma (CM), a more common form of skin cancer linked to exposure to u...
Background: In March 2014, a molecular cluster of five multidrug resistant Mycobacterium tuberculosis was detected by the Austrian National Reference Laboratory. An investigation was initiate...
Therapeutic application of pluripotent stem (PS) cell-derived products represents the ultimate goal of stem cell research. In order to apply this technology to patients, it is fundamental to ...
As reprogramming methodologies have become more reliable and efficient, corresponding improvements were needed in the characterization workflow as well; specifically in terms of the speed, ef...
DATE: May 31, 2017TIME: 9:00AM PDT, 12:00PM ETAlthough more remains to be learnt, great advances have recently been made in the understanding of the molecular & genetic bases of dis...
Genetic disease is the leading cause of death for infants in the intensive care units. Traditional testing is too slow to provide physicians a timely diagnosis to help guide the management of...
Genetic testing currently plays a relatively niche role in healthcare, with testing typically limited to single genes and targeting a relatively narrow range of diseases, including paediatric...
A recent clinical trial of the AR inhibitor enzalutamide in patients with TNBC included an exploratory endpoint using RNA sequencing to identify a genomic signature of patients likely to resp...
Clinical whole genome sequencing (cWGS) is rapidly gaining acceptance as cost is decreasing and success rates in identifying disease-causing variants are increasing. While the application of...
Recent advances in DNA sequencing have now made it possible to characterize genomes, transcriptomes and even methylomes which is transforming both basic research and clinical practice. Whole...
DATE: November 16, 2016
TIME: 8:00am PT, 11:00am ET
Breast cancer is the most commonly diagnosed cancer in women and is the second leading cause of cancer death among wo...
Whole genome and exome sequencing is being widely used to identify disease-causing variants in patients with hereditary and rare diseases. Discovering the true disease-causing variants often...
Targeted sequencing assays are increasingly used to identify tumor mutations that guide therapeutic decisions. Interpretation of a cancer variant’s origin and therapeutic impact poses a...
In order to realize the benefits of personalized cancer therapy, increasing demands are placed upon clinical laboratories to provide timely, comprehensive, clinically actionable, and analytic...
DNA methylation is an essential mechanism of epigenetic gene regulation with broad relevance in development and disease. Its localization on genomic DNA and general stability make this epigen...
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