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    Exome Sequencing

    Exome Sequencing: is also known as whole exome sequencing (WES). It is a genomic technique for sequencing all of the protein-coding region of genes in a genome. It consists of two steps: the first step is to select only the subset of DNA that encodes proteins.

    Webinars

    • FEB 19, 2014 | 9:00 AM
      Next-generation RNA-Seq and Exome-Seq using Ion Proton Sequencer for translational oncology research
      Next-generation RNA-Seq and Exome-Seq using Ion Proton Sequencer...
      Genome sequencing technologies have enabled a rapid expansion into understanding cancer biology, drug development, and treatment resistance. Research in our laboratory has focused on the app...
      Speaker: Milan Radovich, PhD
      Presented at: Advanced Genomics in Clinical and Translational Research - Winter
      106
      NOV 20, 2013 | 11:00 AM
      Tools to accelerate biomarker screening for CDx
      Tools to accelerate biomarker screening for CDx
      ...
      Speaker: Dan Rhodes, PhD
      Presented at: Advanced Genomics in Clinical and Translational Research - Fall
      199
      NOV 08, 2013 | 12:00 PM
      Childhood cancer with various genomic assay including whole genome sequencing
      Childhood cancer with various genomic assay including whole genome...
      The NCI's Therapeutically Applicable Research to Generate Effective Treatments (TARGET) is a comprehensive genomic characterization initiative to determine the molecular changes that drive th...
      Speaker: Jaime Guidry Auvil, PhD
      Presented at: Cancer: Research, Discovery and Therapeutics Virtual Event Series 2013
      4
      OCT 17, 2013 | 9:00 AM
      Using DNASTAR Software to Identify Cancer Variations in Targeted Resequencing Data
      Using DNASTAR Software to Identify Cancer Variations in Targeted...
      DNASTAR offers an integrated suite of software for assembling and analyzing data from all major next-generation sequencing platforms. The software supports a variety of reference guided and d...
      Speaker: Matthew Keyser, MS
      Presented at: Cancer: Research, Discovery and Therapeutics Virtual Event Series 2013
      48
      OCT 17, 2013 | 8:00 AM
      C.E. CREDITS
      Next-generation Cancer Care in the Age of Genomics, Precision Medicine, High Throughput Biology
      Next-generation Cancer Care in the Age of Genomics, Precision...
      Developments in DNA sequencing technology have provided a unique opportunity for diagnosis and discovery of genetic alterations for rare diseases. Partnering with 20 academic centers in the U...
      Speaker: C Jimmy Lin, MD, PhD, MHS
      Presented at: Cancer: Research, Discovery and Therapeutics Virtual Event Series 2013
      52
      OCT 17, 2013 | 6:00 AM
      A Bioinformatics Approach to Clinical Sequencing
      A Bioinformatics Approach to Clinical Sequencing
      The widespread adoption of precision medicine in oncology requires: a compendium of therapies targeting the genetic vulnerabilities of cancer; the diagnostic tools capable of generating a pr...
      Speaker: Dan Rhodes, PhD
      Presented at: Cancer: Research, Discovery and Therapeutics Virtual Event Series 2013
      80
      OCT 16, 2013 | 9:00 AM
      C.E. CREDITS
      Keynote: Breast Cancer Genomics and Genetics
      Keynote: Breast Cancer Genomics and Genetics
      It is now appreciated that breast cancer is not a single disease, but instead is a spectrum of tumor subtypes with distinct cellular origins, somatic changes and somewhat predictable clinical...
      Speaker: Charles M. Perou, PhD
      Presented at: Cancer: Research, Discovery and Therapeutics Virtual Event Series 2013
      132
      AUG 22, 2013 | 3:00 PM
      Next-generation Cancer Care in the Age of Genomics, Precision Medicine, High Throughput Biology
      Next-generation Cancer Care in the Age of Genomics, Precision...
      Developments in DNA sequencing technology have provided a unique opportunity for diagnosis and discovery of genetic alterations for rare diseases. Partnering with 20 academic centers in the U...
      Speaker: C Jimmy Lin, MD, PhD, MHS
      Presented at: Genetics and Genomics Virtual Event Series 2013
      114
      AUG 22, 2013 | 12:00 PM
      C.E. CREDITS
      Exome Sequencing as a Diagnostic Tool
      Exome Sequencing as a Diagnostic Tool
      It is widely accepted that approximately 85% of known disease-causing DNA variants affect the exons and splice junctions, which is about 1% of the whole genome. As a result, Clinical Exome Se...
      Speaker: Pinar Bayrak-Toydemir, MD, PhD
      Presented at: Genetics and Genomics Virtual Event Series 2013
      66
      AUG 22, 2013 | 10:00 AM
      C.E. CREDITS
      Clinical Interpretation of Sequence Variants
      Clinical Interpretation of Sequence Variants
      The advent of massively parallel sequencing by next generation sequencing platforms now allow genomic approaches for individualizing healthcare. Genomic sequencing data reveals variants in ge...
      Speaker: Elaine Lyon, PhD
      Presented at: Genetics and Genomics Virtual Event Series 2013
      72
      AUG 22, 2013 | 10:00 AM
      C.E. CREDITS
      Using Prostate Cancer Exome Data to Identify Candidate Genes
      Using Prostate Cancer Exome Data to Identify Candidate Genes
      In this presentation, exome data from individuals with prostate cancer will be aligned against an annotated reference human genome and SNPs will be identified using DNASTARs SeqMan NGen softw...
      Speaker: Matthew Keyser, MS
      Presented at: Genetics and Genomics Virtual Event Series 2013
      60
      AUG 21, 2013 | 4:00 PM
      C.E. CREDITS
      The hidden layer of RNA regulation in human development
      The hidden layer of RNA regulation in human development
      High throughput transcriptomic analyses have shown that most of the human genome is dynamically transcribed to produce an extraordinary range of overlapping and interlacing intronic, intergen...
      Speaker: John Mattick, PhD,AO, FAA, FRCPA
      Presented at: Genetics and Genomics Virtual Event Series 2013
      132
      AUG 21, 2013 | 2:00 PM
      Claritas Genomics: The Future of Pediatric Diagnostics is Now
      Claritas Genomics: The Future of Pediatric Diagnostics is Now
      Increasingly genome sequence knowledge is unraveling the complexity of rare Mendelian disorders offering hope for our children's medical care through better disease diagnosis and ultimately p...
      Speaker: Patrice Milos, PhD
      Presented at: Genetics and Genomics Virtual Event Series 2013
      96
      AUG 21, 2013 | 8:00 AM
      C.E. CREDITS
      Implementation of genome sequencing in a clinical diagnostic laboratory
      Implementation of genome sequencing in a clinical diagnostic laboratory
      With the technical costs of genome sequencing continuously dropping, it is now feasible to offer this assay in a clinical context. Empirical evidence suggests that genome and exome sequencing...
      Speaker: Matthew Lebo, PhD, FACMG
      Presented at: Genetics and Genomics Virtual Event Series 2013
      79
    FEB 19, 2014 | 9:00 AM
    Next-generation RNA-Seq and Exome-Seq using Ion Proton Sequencer for translational oncology research
    Next-generation RNA-Seq and Exome-Seq using Ion Proton Sequencer...
    Genome sequencing technologies have enabled a rapid expansion into understanding cancer biology, drug development, and treatment resistance. Research in our laboratory has focused on the app...
    Speaker: Milan Radovich, PhD
    Presented at: Advanced Genomics in Clinical and Translational Research - Winter
    106
    NOV 20, 2013 | 11:00 AM
    Tools to accelerate biomarker screening for CDx
    Tools to accelerate biomarker screening for CDx
    ...
    Speaker: Dan Rhodes, PhD
    Presented at: Advanced Genomics in Clinical and Translational Research - Fall
    199
    NOV 08, 2013 | 12:00 PM
    Childhood cancer with various genomic assay including whole genome sequencing
    Childhood cancer with various genomic assay including whole genome...
    The NCI's Therapeutically Applicable Research to Generate Effective Treatments (TARGET) is a comprehensive genomic characterization initiative to determine the molecular changes that drive th...
    Speaker: Jaime Guidry Auvil, PhD
    Presented at: Cancer: Research, Discovery and Therapeutics Virtual Event Series 2013
    4
    OCT 17, 2013 | 9:00 AM
    Using DNASTAR Software to Identify Cancer Variations in Targeted Resequencing Data
    Using DNASTAR Software to Identify Cancer Variations in Targeted...
    DNASTAR offers an integrated suite of software for assembling and analyzing data from all major next-generation sequencing platforms. The software supports a variety of reference guided and d...
    Speaker: Matthew Keyser, MS
    Presented at: Cancer: Research, Discovery and Therapeutics Virtual Event Series 2013
    48
    OCT 17, 2013 | 8:00 AM
    C.E. CREDITS
    Next-generation Cancer Care in the Age of Genomics, Precision Medicine, High Throughput Biology
    Next-generation Cancer Care in the Age of Genomics, Precision...
    Developments in DNA sequencing technology have provided a unique opportunity for diagnosis and discovery of genetic alterations for rare diseases. Partnering with 20 academic centers in the U...
    Speaker: C Jimmy Lin, MD, PhD, MHS
    Presented at: Cancer: Research, Discovery and Therapeutics Virtual Event Series 2013
    52
     
     
  • OCT 17, 2013 | 6:00 AM
    A Bioinformatics Approach to Clinical Sequencing
    A Bioinformatics Approach to Clinical Sequencing
    The widespread adoption of precision medicine in oncology requires: a compendium of therapies targeting the genetic vulnerabilities of cancer; the diagnostic tools capable of generating a pr...
    Speaker: Dan Rhodes, PhD
    Presented at: Cancer: Research, Discovery and Therapeutics Virtual Event Series 2013
    80
    OCT 16, 2013 | 9:00 AM
    C.E. CREDITS
    Keynote: Breast Cancer Genomics and Genetics
    Keynote: Breast Cancer Genomics and Genetics
    It is now appreciated that breast cancer is not a single disease, but instead is a spectrum of tumor subtypes with distinct cellular origins, somatic changes and somewhat predictable clinical...
    Speaker: Charles M. Perou, PhD
    Presented at: Cancer: Research, Discovery and Therapeutics Virtual Event Series 2013
    132
    AUG 22, 2013 | 3:00 PM
    Next-generation Cancer Care in the Age of Genomics, Precision Medicine, High Throughput Biology
    Next-generation Cancer Care in the Age of Genomics, Precision...
    Developments in DNA sequencing technology have provided a unique opportunity for diagnosis and discovery of genetic alterations for rare diseases. Partnering with 20 academic centers in the U...
    Speaker: C Jimmy Lin, MD, PhD, MHS
    Presented at: Genetics and Genomics Virtual Event Series 2013
    114
    AUG 22, 2013 | 12:00 PM
    C.E. CREDITS
    Exome Sequencing as a Diagnostic Tool
    Exome Sequencing as a Diagnostic Tool
    It is widely accepted that approximately 85% of known disease-causing DNA variants affect the exons and splice junctions, which is about 1% of the whole genome. As a result, Clinical Exome Se...
    Speaker: Pinar Bayrak-Toydemir, MD, PhD
    Presented at: Genetics and Genomics Virtual Event Series 2013
    66
    AUG 22, 2013 | 10:00 AM
    C.E. CREDITS
    Clinical Interpretation of Sequence Variants
    Clinical Interpretation of Sequence Variants
    The advent of massively parallel sequencing by next generation sequencing platforms now allow genomic approaches for individualizing healthcare. Genomic sequencing data reveals variants in ge...
    Speaker: Elaine Lyon, PhD
    Presented at: Genetics and Genomics Virtual Event Series 2013
    72
     
     
  • AUG 22, 2013 | 10:00 AM
    C.E. CREDITS
    Using Prostate Cancer Exome Data to Identify Candidate Genes
    Using Prostate Cancer Exome Data to Identify Candidate Genes
    In this presentation, exome data from individuals with prostate cancer will be aligned against an annotated reference human genome and SNPs will be identified using DNASTARs SeqMan NGen softw...
    Speaker: Matthew Keyser, MS
    Presented at: Genetics and Genomics Virtual Event Series 2013
    60
    AUG 21, 2013 | 4:00 PM
    C.E. CREDITS
    The hidden layer of RNA regulation in human development
    The hidden layer of RNA regulation in human development
    High throughput transcriptomic analyses have shown that most of the human genome is dynamically transcribed to produce an extraordinary range of overlapping and interlacing intronic, intergen...
    Speaker: John Mattick, PhD,AO, FAA, FRCPA
    Presented at: Genetics and Genomics Virtual Event Series 2013
    132
    AUG 21, 2013 | 2:00 PM
    Claritas Genomics: The Future of Pediatric Diagnostics is Now
    Claritas Genomics: The Future of Pediatric Diagnostics is Now
    Increasingly genome sequence knowledge is unraveling the complexity of rare Mendelian disorders offering hope for our children's medical care through better disease diagnosis and ultimately p...
    Speaker: Patrice Milos, PhD
    Presented at: Genetics and Genomics Virtual Event Series 2013
    96
    AUG 21, 2013 | 8:00 AM
    C.E. CREDITS
    Implementation of genome sequencing in a clinical diagnostic laboratory
    Implementation of genome sequencing in a clinical diagnostic laboratory
    With the technical costs of genome sequencing continuously dropping, it is now feasible to offer this assay in a clinical context. Empirical evidence suggests that genome and exome sequencing...
    Speaker: Matthew Lebo, PhD, FACMG
    Presented at: Genetics and Genomics Virtual Event Series 2013
    79
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