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    Whole Genome Sequencing

    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.

    Webinars

    • MAY 11, 2017 | 10:30 AM
      Rapid Whole Genome Sequencing in the NICU and PICU at Rady Children's Hospital
      Rapid Whole Genome Sequencing in the NICU and PICU at Rady Children's...
      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...
      Speaker: Shimul Chowdhury, PhD
      Presented at: Genetics and Genomics Virtual Event Series 2017
      1
      MAY 11, 2017 | 7:30 AM
      C.E. CREDITS
      Keynote Presentation: Genomics in the clinic: A revolution for healthcare and medical research
      Keynote Presentation: Genomics in the clinic: A revolution for...
      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...
      Speaker: Marcel Dinger, PhD
      Presented at: Genetics and Genomics Virtual Event Series 2017
      2
      APR 12, 2017 | 10:30 AM
      Prediction of enzalutamide sensitivity in triple negative breast cancer
      Prediction of enzalutamide sensitivity in triple negative breast...
      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...
      Speaker: Joel Parker, PhD
      Presented at: Molecular Diagnostics Virtual Event Series 2017
      Sponsored By: NanoString Technologies
      2
      FEB 23, 2017 | 10:30 AM
      Clinical Whole Genome Sequencing In a Healthy Population
      Clinical Whole Genome Sequencing In a Healthy Population
      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...
      Speaker: Erica Ramos, MS, CGC
      Presented at: Precision Medicine Virtual Event Series 2017
      3
      FEB 22, 2017 | 6:00 AM
      Mate-pair next generation sequencing as a powerful clinical tool for the characterization of cancer
      Mate-pair next generation sequencing as a powerful clinical tool...
      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...
      Speaker: David Smith, PhD
      Presented at: Precision Medicine Virtual Event Series 2017
      4
      NOV 16, 2016 | 8:00 AM
      The important role of lncRNAs in breast cancer
      The important role of lncRNAs in breast cancer
      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...
      Speaker: Rebecca DeVaux, PhD , Alfredo Hidalgo-Miranda, PhD
      Sponsored By: Affymetrix, Affymetrix
      8
      NOV 02, 2016 | 6:00 AM
      Fast and easy identification of disease causing variants in hereditary diseases using patient phenotype information and testing for different modes of inheritance
      Fast and easy identification of disease causing variants in hereditary...
      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...
      Speaker: Anika Joecker, PhD
      Presented at: Clinical Diagnostics & Research Virtual Event Series 2016
      3
      MAY 12, 2016 | 1:30 PM
      The benefits and burdens of assaying matched normal tissue when sequencing cancer genomes
      The benefits and burdens of assaying matched normal tissue when...
      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...
      Speaker: Elena Helman, PhD
      Presented at: Genetics and Genomics Virtual Event Series 2016
      2
      MAY 12, 2016 | 12:00 PM
      Implementation of genomic assays for tumor genome profiling in a clinical laboratory setting
      Implementation of genomic assays for tumor genome profiling in...
      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...
      Speaker: Sarah Murray, PhD
      Presented at: Genetics and Genomics Virtual Event Series 2016
      2
      MAY 12, 2016 | 10:30 AM
      DNA methylation analysis by multiplexed reduced representation bisulfite sequencing
      DNA methylation analysis by multiplexed reduced representation...
      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...
      Speaker: Paul Datlinger
      Presented at: Genetics and Genomics Virtual Event Series 2016
      2
      MAY 12, 2016 | 6:00 AM
      The sequencing of 10,000 Human Genomes
      The sequencing of 10,000 Human Genomes
      Technological advances allow for the large scale sequencing of the whole human genome. Most studies have generated population-based information on human diversity using low to intermediate co...
      Speaker: Amalio Telenti MD, PhD
      Presented at: Genetics and Genomics Virtual Event Series 2016
      2
      MAY 11, 2016 | 3:00 PM
      Genomics in the Clinic - Medical Ethics and Policy
      Genomics in the Clinic - Medical Ethics and Policy
      It is estimated that by the end of this year more than 1 million people worldwide will have had their genome sequenced. Genomic sequencing is increasingly being integrated into clinical care,...
      Speaker: Amy McGuire, JD, PhD
      Presented at: Genetics and Genomics Virtual Event Series 2016
      4
      MAY 11, 2016 | 1:30 PM
      Pediatric genetics - Applications of NGS in the Clinic
      Pediatric genetics - Applications of NGS in the Clinic
      The rapid implementation of next generation sequencing is changing how genetics and genomics are applied in a clinical setting. However, the quickly evolving technology can be challenging to...
      Speaker: Emily Farrow, PhD, CGC
      Presented at: Genetics and Genomics Virtual Event Series 2016
      3
      MAY 11, 2016 | 1:30 PM
      C.E. CREDITS
      Microfluidic Single Cell Exome-seq and RNA-seq analysis of Tumor Composition
      Microfluidic Single Cell Exome-seq and RNA-seq analysis of Tumor...
      Human breast tumors have been shown to exhibit extensive inter- and intra-tumor heterogeneity. While recent advances in genomic technologies have allowed us to deconvolute this heterogeneity,...
      Speaker: Ioannis (Jiannis) Ragoussis, PhD
      Presented at: Genetics and Genomics Virtual Event Series 2016
      3
      MAY 11, 2016 | 12:00 PM
      C.E. CREDITS
      The FDA's experience with emerging genomics technologies - past, present and future
      The FDA's experience with emerging genomics technologies - past,...
      Emerging technologies facilitate basic science research, but their value in regulatory applications requires rigorous assessment and consensus within the research community. Next-generation s...
      Speaker: Weida Tong, PhD
      Presented at: Genetics and Genomics Virtual Event Series 2016
      2
      MAY 11, 2016 | 12:00 PM
      C.E. CREDITS
      Implementing Longitudinal Clinical/Whole Genome Research
      Implementing Longitudinal Clinical/Whole Genome Research
      Technological advances have made genomic sequencing more affordable, efficient, and available. Questions related to the implementation and effects of large-scale sequencing in healthcare have...
      Speaker: Benjamin Solomon, MD
      Presented at: Genetics and Genomics Virtual Event Series 2016
      3
      MAY 11, 2016 | 10:30 AM
      Whole Genome? The Future of High-Quality Genomes & Transcriptomes
      Whole Genome? The Future of High-Quality Genomes & Transcriptomes
      New approaches to generate high-quality representations of human genomes and transcriptomes are now becoming available. In contrast to short-read “Whole-Genome” re-sequencing meth...
      Speaker: Jonas Korlach, PhD
      Presented at: Genetics and Genomics Virtual Event Series 2016
      2
      MAY 11, 2016 | 7:30 AM
      Keynote: Genomes for Medicine
      Keynote: Genomes for Medicine
      Advances in DNA sequencing technology are about to transform healthcare.    Since completion of the human genome reference sequence ten years ago, there has been a 1-million fold im...
      Speaker: David Bentley, DPhil, FMedSci
      Presented at: Genetics and Genomics Virtual Event Series 2016
      5
      MAY 11, 2016 | 6:00 AM
      Natural Human Gene Knockouts and the Discovery of New Drug Targets
      Natural Human Gene Knockouts and the Discovery of New Drug Targets
      It has been estimated that every human being carries ~20 rare “natural human gene knockouts”-DNA variants in protein-coding regions of the genome that partially or completely inac...
      Speaker: Frederick Dewey, MD
      Presented at: Genetics and Genomics Virtual Event Series 2016
      4
      APR 06, 2016 | 1:30 PM
      Validation and Implementation of Whole-Exome Sequencing to Guide Precision Cancer Care
      Validation and Implementation of Whole-Exome Sequencing to Guide...
      Cancer remains the second leading cause of death in the United States.  Most tumors arise from a myriad of genetic changes that dysregulate cell growth and prompt survival.  Ident...
      Speaker: Hanna Rennert, PhD, F.A.C.M.G
      Presented at: Molecular Diagnostics Virtual Event Series 2016
      4
      MAR 29, 2016 | 8:00 AM
      WEBINAR: Applications of Targeted Gene Panels in Inherited Disease Research
      WEBINAR: Applications of Targeted Gene Panels in Inherited Disease...
      Recent advances in next-generation sequencing (NGS) have helped to accelerate the pace of discovery in the field of genetic disease research and testing. The ability to analyze multiple genes...
      Speaker: Brian Meyer, PhD , Robert Sebra, PhD
      Sponsored By: Thermo Fisher Scientific - Ion Torrent, Thermo Fisher Scientific - Ion Torrent
      11 3
      MAR 22, 2016 | 9:30 AM
      Tales from the Clinic
      Tales from the Clinic
      Medical genetics is a specialty of medicine that encompasses patients at all ages (prenatal, pediatric, adult), as well as all organ systems. As the genetic causes of more diseases have been ...
      Speaker: Fuki Hisama, MD, FACMG, FAAN , Eric Konnick, MD, MS , Laura Amendola, MS CGC
      Presented at: GENETICS IN YOUR CLINIC: WHAT YOU CAN AND SHOULD DO NOW
      3
      FEB 24, 2016 | 2:00 PM
      Why we should clinically classify genotypes, not variants
      Why we should clinically classify genotypes, not variants
      A century and a half after we first probed heritability, we risk forgetting one of Mendel's own basic findings, in rushing to broaden clinical genomics to lifelong care for all. Embracing...
      Speaker: Nathaniel Pearson, PhD
      Presented at: Precision Medicine Virtual Event Series 2016
      2
      FEB 24, 2016 | 12:00 PM
      G-DOC Plus: A Data Science Platform for Precision Medicine Research
      G-DOC Plus: A Data Science Platform for Precision Medicine Research
      The advent of the microarray technology in 2000 has paved the way for advanced translational research methods that use molecular markers such as microRNA, proteins, metabolites and copy numbe...
      Speaker: Subha Madhavan, PhD
      Presented at: Precision Medicine Virtual Event Series 2016
      2
    MAY 11, 2017 | 10:30 AM
    Rapid Whole Genome Sequencing in the NICU and PICU at Rady Children's Hospital
    Rapid Whole Genome Sequencing in the NICU and PICU at Rady Children's...
    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...
    Speaker: Shimul Chowdhury, PhD
    Presented at: Genetics and Genomics Virtual Event Series 2017
    1
    MAY 11, 2017 | 7:30 AM
    C.E. CREDITS
    Keynote Presentation: Genomics in the clinic: A revolution for healthcare and medical research
    Keynote Presentation: Genomics in the clinic: A revolution for...
    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...
    Speaker: Marcel Dinger, PhD
    Presented at: Genetics and Genomics Virtual Event Series 2017
    2
    APR 12, 2017 | 10:30 AM
    Prediction of enzalutamide sensitivity in triple negative breast cancer
    Prediction of enzalutamide sensitivity in triple negative breast...
    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...
    Speaker: Joel Parker, PhD
    Presented at: Molecular Diagnostics Virtual Event Series 2017
    Sponsored By: NanoString Technologies
    2
    FEB 23, 2017 | 10:30 AM
    Clinical Whole Genome Sequencing In a Healthy Population
    Clinical Whole Genome Sequencing In a Healthy Population
    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...
    Speaker: Erica Ramos, MS, CGC
    Presented at: Precision Medicine Virtual Event Series 2017
    3
    FEB 22, 2017 | 6:00 AM
    Mate-pair next generation sequencing as a powerful clinical tool for the characterization of cancer
    Mate-pair next generation sequencing as a powerful clinical tool...
    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...
    Speaker: David Smith, PhD
    Presented at: Precision Medicine Virtual Event Series 2017
    4
     
     
  • NOV 16, 2016 | 8:00 AM
    The important role of lncRNAs in breast cancer
    The important role of lncRNAs in breast cancer
    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...
    Speaker: Rebecca DeVaux, PhD , Alfredo Hidalgo-Miranda, PhD
    Sponsored By: Affymetrix, Affymetrix
    8
    NOV 02, 2016 | 6:00 AM
    Fast and easy identification of disease causing variants in hereditary diseases using patient phenotype information and testing for different modes of inheritance
    Fast and easy identification of disease causing variants in hereditary...
    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...
    Speaker: Anika Joecker, PhD
    Presented at: Clinical Diagnostics & Research Virtual Event Series 2016
    3
    MAY 12, 2016 | 1:30 PM
    The benefits and burdens of assaying matched normal tissue when sequencing cancer genomes
    The benefits and burdens of assaying matched normal tissue when...
    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...
    Speaker: Elena Helman, PhD
    Presented at: Genetics and Genomics Virtual Event Series 2016
    2
    MAY 12, 2016 | 12:00 PM
    Implementation of genomic assays for tumor genome profiling in a clinical laboratory setting
    Implementation of genomic assays for tumor genome profiling in...
    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...
    Speaker: Sarah Murray, PhD
    Presented at: Genetics and Genomics Virtual Event Series 2016
    2
    MAY 12, 2016 | 10:30 AM
    DNA methylation analysis by multiplexed reduced representation bisulfite sequencing
    DNA methylation analysis by multiplexed reduced representation...
    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...
    Speaker: Paul Datlinger
    Presented at: Genetics and Genomics Virtual Event Series 2016
    2
     
     
  • MAY 12, 2016 | 6:00 AM
    The sequencing of 10,000 Human Genomes
    The sequencing of 10,000 Human Genomes
    Technological advances allow for the large scale sequencing of the whole human genome. Most studies have generated population-based information on human diversity using low to intermediate co...
    Speaker: Amalio Telenti MD, PhD
    Presented at: Genetics and Genomics Virtual Event Series 2016
    2
    MAY 11, 2016 | 3:00 PM
    Genomics in the Clinic - Medical Ethics and Policy
    Genomics in the Clinic - Medical Ethics and Policy
    It is estimated that by the end of this year more than 1 million people worldwide will have had their genome sequenced. Genomic sequencing is increasingly being integrated into clinical care,...
    Speaker: Amy McGuire, JD, PhD
    Presented at: Genetics and Genomics Virtual Event Series 2016
    4
    MAY 11, 2016 | 1:30 PM
    Pediatric genetics - Applications of NGS in the Clinic
    Pediatric genetics - Applications of NGS in the Clinic
    The rapid implementation of next generation sequencing is changing how genetics and genomics are applied in a clinical setting. However, the quickly evolving technology can be challenging to...
    Speaker: Emily Farrow, PhD, CGC
    Presented at: Genetics and Genomics Virtual Event Series 2016
    3
    MAY 11, 2016 | 1:30 PM
    C.E. CREDITS
    Microfluidic Single Cell Exome-seq and RNA-seq analysis of Tumor Composition
    Microfluidic Single Cell Exome-seq and RNA-seq analysis of Tumor...
    Human breast tumors have been shown to exhibit extensive inter- and intra-tumor heterogeneity. While recent advances in genomic technologies have allowed us to deconvolute this heterogeneity,...
    Speaker: Ioannis (Jiannis) Ragoussis, PhD
    Presented at: Genetics and Genomics Virtual Event Series 2016
    3
    MAY 11, 2016 | 12:00 PM
    C.E. CREDITS
    The FDA's experience with emerging genomics technologies - past, present and future
    The FDA's experience with emerging genomics technologies - past,...
    Emerging technologies facilitate basic science research, but their value in regulatory applications requires rigorous assessment and consensus within the research community. Next-generation s...
    Speaker: Weida Tong, PhD
    Presented at: Genetics and Genomics Virtual Event Series 2016
    2
     
     
  • MAY 11, 2016 | 12:00 PM
    C.E. CREDITS
    Implementing Longitudinal Clinical/Whole Genome Research
    Implementing Longitudinal Clinical/Whole Genome Research
    Technological advances have made genomic sequencing more affordable, efficient, and available. Questions related to the implementation and effects of large-scale sequencing in healthcare have...
    Speaker: Benjamin Solomon, MD
    Presented at: Genetics and Genomics Virtual Event Series 2016
    3
    MAY 11, 2016 | 10:30 AM
    Whole Genome? The Future of High-Quality Genomes & Transcriptomes
    Whole Genome? The Future of High-Quality Genomes & Transcriptomes
    New approaches to generate high-quality representations of human genomes and transcriptomes are now becoming available. In contrast to short-read “Whole-Genome” re-sequencing meth...
    Speaker: Jonas Korlach, PhD
    Presented at: Genetics and Genomics Virtual Event Series 2016
    2
    MAY 11, 2016 | 7:30 AM
    Keynote: Genomes for Medicine
    Keynote: Genomes for Medicine
    Advances in DNA sequencing technology are about to transform healthcare.    Since completion of the human genome reference sequence ten years ago, there has been a 1-million fold im...
    Speaker: David Bentley, DPhil, FMedSci
    Presented at: Genetics and Genomics Virtual Event Series 2016
    5
    MAY 11, 2016 | 6:00 AM
    Natural Human Gene Knockouts and the Discovery of New Drug Targets
    Natural Human Gene Knockouts and the Discovery of New Drug Targets
    It has been estimated that every human being carries ~20 rare “natural human gene knockouts”-DNA variants in protein-coding regions of the genome that partially or completely inac...
    Speaker: Frederick Dewey, MD
    Presented at: Genetics and Genomics Virtual Event Series 2016
    4
    APR 06, 2016 | 1:30 PM
    Validation and Implementation of Whole-Exome Sequencing to Guide Precision Cancer Care
    Validation and Implementation of Whole-Exome Sequencing to Guide...
    Cancer remains the second leading cause of death in the United States.  Most tumors arise from a myriad of genetic changes that dysregulate cell growth and prompt survival.  Ident...
    Speaker: Hanna Rennert, PhD, F.A.C.M.G
    Presented at: Molecular Diagnostics Virtual Event Series 2016
    4
     
     
  • MAR 29, 2016 | 8:00 AM
    WEBINAR: Applications of Targeted Gene Panels in Inherited Disease Research
    WEBINAR: Applications of Targeted Gene Panels in Inherited Disease...
    Recent advances in next-generation sequencing (NGS) have helped to accelerate the pace of discovery in the field of genetic disease research and testing. The ability to analyze multiple genes...
    Speaker: Brian Meyer, PhD , Robert Sebra, PhD
    Sponsored By: Thermo Fisher Scientific - Ion Torrent, Thermo Fisher Scientific - Ion Torrent
    11 3
    MAR 22, 2016 | 9:30 AM
    Tales from the Clinic
    Tales from the Clinic
    Medical genetics is a specialty of medicine that encompasses patients at all ages (prenatal, pediatric, adult), as well as all organ systems. As the genetic causes of more diseases have been ...
    Speaker: Fuki Hisama, MD, FACMG, FAAN , Eric Konnick, MD, MS , Laura Amendola, MS CGC
    Presented at: GENETICS IN YOUR CLINIC: WHAT YOU CAN AND SHOULD DO NOW
    3
    FEB 24, 2016 | 2:00 PM
    Why we should clinically classify genotypes, not variants
    Why we should clinically classify genotypes, not variants
    A century and a half after we first probed heritability, we risk forgetting one of Mendel's own basic findings, in rushing to broaden clinical genomics to lifelong care for all. Embracing...
    Speaker: Nathaniel Pearson, PhD
    Presented at: Precision Medicine Virtual Event Series 2016
    2
    FEB 24, 2016 | 12:00 PM
    G-DOC Plus: A Data Science Platform for Precision Medicine Research
    G-DOC Plus: A Data Science Platform for Precision Medicine Research
    The advent of the microarray technology in 2000 has paved the way for advanced translational research methods that use molecular markers such as microRNA, proteins, metabolites and copy numbe...
    Speaker: Subha Madhavan, PhD
    Presented at: Precision Medicine Virtual Event Series 2016
    2
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