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    Mutation

    Mutation: the changing of the structure of a gene, resulting in a variant form that may be transmitted to subsequent generations, caused by the alteration of single base units in DNA, or the deletion, insertion, or rearrangement of larger sections of genes or chromosomes.

    Webinars

    • AUG 20, 2014 | 8:45 AM
      Novel gene chip technologies and NGS sequencing for personalized medicine & diagnostic
      Novel gene chip technologies and NGS sequencing for personalized...
      The flexibility of the BioMark Real-Time PCR System, allow us to preform genetic research using different types of nano-fluidic (48.48 or 96.96) chips setup, in the thermal cycle of these chi...
      Speaker: Dani Bercovich, PhD
      Presented at: Genetics and Genomics Virtual Event Series 2014
      12
      AUG 20, 2014 | 8:30 AM
      Actionable mutation detection with multiplex pcr-based targeted enrichment approach for next generation sequencing (NGS)
      Actionable mutation detection with multiplex pcr-based targeted...
      Next-generation sequencing (NGS) has revolutionized extraction of genomic information, facilitating rapid advances in the fields of clinical research and molecular diagnostics. However, c...
      Speaker: Vikram Devgan, PhD, MBA
      Presented at: Genetics and Genomics Virtual Event Series 2014
      16
      AUG 20, 2014 | 8:00 AM
      High-resolution genomic analysis reveals genetic impacts of human papillomavirus in human cancers
      High-resolution genomic analysis reveals genetic impacts of human...
      One of the hallmarks of human cancers is genetic instability. My colleagues and I recently identified a remarkable association between human papillomavirus (HPV) and genomic structural variat...
      Speaker: David E Symer, MD, PhD
      Presented at: Genetics and Genomics Virtual Event Series 2014
      4
      MAY 29, 2014 | 12:00 PM
      Navigating the Complexities of the Human Oncoproteome with the SigNET KnowledgeBank
      Navigating the Complexities of the Human Oncoproteome with the...
      The human genome encodes ~21,500 proteins that are subject to reversible phosphorylation at nearly 1 million phosphosites by about 538 protein kinases and 156 protein phosphatases. Amongst ot...
      Speaker: Steve Pelech, PhD
      Presented at: Clinical Diagnostics & Research Virtual Event Series 2014
      46
      APR 17, 2014 | 11:00 AM
      A Novel Method of Active Paraffin Removal
      A Novel Method of Active Paraffin Removal
        Formalin Fixation and Paraffin Embedding (FFPE) of tissue samples is a routine practice by pathologists; the technique enables high quality preservation of structural information. However, ...
      Speaker: Hamid Khoja, PhD,
      Sponsored By: Covaris, Covaris
      78
      MAR 20, 2014 | 1:00 PM
      The role of high throughput sequencing in the research and diagnosis of neurodegenerative disorders
      The role of high throughput sequencing in the research and diagnosis...
      Using high throughput next-generation sequencing to simultaneously search large number of genes for pathogenic mutations has numerous advantages. It decreases the pressure to narrow the dif...
      Speaker: Peter L Nagy, MD, PhD
      Presented at: Neuroscience Virtual Event Series 2014
      0
      MAR 20, 2014 | 12:00 PM
      The Genetics of Alzheimer's disease
      The Genetics of Alzheimer's disease
      Alzheimers disease (AD) is a common neurodegenerative disorder characterized clinically by progress decline in memory and thinking and pathologically by the presence of senile plaques and neu...
      Speaker: Alison Goate, D.Phil
      Presented at: Neuroscience Virtual Event Series 2014
      68
      MAR 20, 2014 | 7:00 AM
      Huntingtons Disease: Twenty years and counting
      Huntingtons Disease: Twenty years and counting
      Huntington's disease (HD) is a progressive, inherited, degenerative brain disorder that produces physical, mental and emotional changes. Named for George Huntington, the physician who fi...
      Speaker: Margaret Sutherland, PhD
      Presented at: Neuroscience Virtual Event Series 2014
      106
      FEB 19, 2014 | 10:00 AM
      Next-generation sequencing applications in advanced cancer samples: Experience with Ion AmpliSeq custom panels
      Next-generation sequencing applications in advanced cancer samples:...
      Making precision cancer care a future reality requires novel approachesto finding treatment targets in cancers. Single-gene assays currently performed in clinical research laboratories are in...
      Speaker: Christopher Corless, MD, PhD
      Presented at: Advanced Genomics in Clinical and Translational Research - Winter
      122
      FEB 05, 2014 | 4:00 PM
      Cryopreservation: a cold solution
      Cryopreservation: a cold solution
      The popularity reached by the genetic manipulation of laboratory animals to create new models for studying human diseases, produced in turn, that the techniques for assisted reproduction cons...
      Speaker: Jorge Sztein, DVM, PhD
      Presented at: Laboratory Animal Sciences Virtual Event Series 2014
      0
      FEB 05, 2014 | 2:00 PM
      C.E. CREDITS
      The impact of genetic background in mouse and rat models: concerns and solutions
      The impact of genetic background in mouse and rat models: concerns...
      It is increasingly recognized that the genetic background (i.e., all genomic sequences other than the gene(s) of interest) can have profound influences on the phenotype of an animal model. I...
      Speaker: Fernando Benavides, DVM, PhD, DACLAM
      Presented at: Laboratory Animal Sciences Virtual Event Series 2014
      21
      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
      OCT 17, 2013 | 2:00 PM
      C.E. CREDITS
      Oncoproteins K-Ras and Pim kinases as molecular targets in pancreatic cancer
      Oncoproteins K-Ras and Pim kinases as molecular targets in pancreatic...
      Pancreatic cancer is the 4th most common cause of cancer deaths in the United States. Due to the aggressive nature of this cancer and the lack of biomarkers for early detection, the incidence...
      Speaker: Antonio T. Baines, PhD
      Presented at: Cancer: Research, Discovery and Therapeutics Virtual Event Series 2013
      72
      OCT 17, 2013 | 7:00 AM
      Advancing Translational Cancer Research through Automated RNASeq Sample Preparation from Archival FFPE Tissue Specimens
      Advancing Translational Cancer Research through Automated RNASeq...
      RNA-Seq allows the simultaneous observation of gene expression levels, mutations in the coding sequences, splice variants and gene fusions, which are especially important in cancer studies. A...
      Speaker: Michaela Bowden, PhD
      Presented at: Cancer: Research, Discovery and Therapeutics Virtual Event Series 2013
      98
      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 | 3:00 PM
      C.E. CREDITS
      The roles of Ack family kinases in Drosophila development
      The roles of Ack family kinases in Drosophila development
      Deregulation of ACK1, a non-receptor tyrosine kinase originally identified by its ability to bind to GTP-bound Cdc42 (hence the name: activated Cdc42-associated kinase)(Manser et al., 1993),...
      Speaker: Henry Chang, PhD
      Presented at: Cancer: Research, Discovery and Therapeutics Virtual Event Series 2013
      42
      OCT 16, 2013 | 2:00 PM
      C.E. CREDITS
      Novel therapies for ALK mutated cancers
      Novel therapies for ALK mutated cancers
      Non Small Cell Lung Cancer (NSCLC) is one of the most significant causes of cancer-related mortality worldwide. In about 6-7% of NSCLC, rearrangements involving the Anaplastic Lymphoma Kinase...
      Speaker: Roberto Chiarle, MD
      Presented at: Cancer: Research, Discovery and Therapeutics Virtual Event Series 2013
      32
      OCT 16, 2013 | 1:00 PM
      C.E. CREDITS
      Resistance to AR Signaling Inhibitors in Castration Resistant Prostate Cancer
      Resistance to AR Signaling Inhibitors in Castration Resistant...
      While androgen deprivation therapy (ADT) remains the primary treatment modality for patients with metastatic prostate cancer (PCa), treatment is uniformly marked by progression to castration-...
      Speaker: Elahe A Mostaghel, MD, PhD
      Presented at: Cancer: Research, Discovery and Therapeutics Virtual Event Series 2013
      80
      OCT 16, 2013 | 1:00 PM
      C.E. CREDITS
      Investigating tissue specificity of cancer-causing germline mutations
      Investigating tissue specificity of cancer-causing germline mutations
      The remarkable diversity we see between different cell types in the human body is governed by the specificity attained through transcriptional and epigenetic regulatory programs. Cancer is a...
      Speaker: Jessica C. Mar, PhD
      Presented at: Cancer: Research, Discovery and Therapeutics Virtual Event Series 2013
      68
      OCT 16, 2013 | 11:00 AM
      SuperSelective PCR Primers for the Detection of Rare Mutant Cancer Cells in Clinical Samples Containing Abundant Normal Cells
      SuperSelective PCR Primers for the Detection of Rare Mutant Cancer...
      "SuperSelective" primers, by virtue of their unique design, enable only a few molecules of a mutant sequence to generate amplicons in conventional, real-time PCR assays without interference...
      Speaker: Fred Kramer, PhD
      Presented at: Cancer: Research, Discovery and Therapeutics Virtual Event Series 2013
      90
      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
      OCT 16, 2013 | 6:00 AM
      Building an Ion AmpliSeq Colon and Lung Cancer Panel - Consortium development of a tool for clinical research applications
      Building an Ion AmpliSeq Colon and Lung Cancer Panel - Consortium...
      The knowledge of molecular alterations involved in colon carcinoma (CRC) and non-small-cell lung carcinoma (NSCLC) has significantly increased in the past few years. Molecular subgroups of t...
      Speaker: Nicola Normanno, MD
      Presented at: Cancer: Research, Discovery and Therapeutics Virtual Event Series 2013
      102
      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 21, 2013 | 4:00 PM
      C.E. CREDITS
      Development of Targeted Next Generation Sequencing for Pharmacogenomics
      Development of Targeted Next Generation Sequencing for Pharmacogenomics
      The goal of personalized medicine is to customize healthcare to the individual patient. Pharmacogenomics, the analysis of how a patient's genetic makeup affects the individual's response to c...
      Speaker: Edward Ki Yun Leung, PhD
      Presented at: Genetics and Genomics Virtual Event Series 2013
      42
    AUG 20, 2014 | 8:45 AM
    Novel gene chip technologies and NGS sequencing for personalized medicine & diagnostic
    Novel gene chip technologies and NGS sequencing for personalized...
    The flexibility of the BioMark Real-Time PCR System, allow us to preform genetic research using different types of nano-fluidic (48.48 or 96.96) chips setup, in the thermal cycle of these chi...
    Speaker: Dani Bercovich, PhD
    Presented at: Genetics and Genomics Virtual Event Series 2014
    12
    AUG 20, 2014 | 8:30 AM
    Actionable mutation detection with multiplex pcr-based targeted enrichment approach for next generation sequencing (NGS)
    Actionable mutation detection with multiplex pcr-based targeted...
    Next-generation sequencing (NGS) has revolutionized extraction of genomic information, facilitating rapid advances in the fields of clinical research and molecular diagnostics. However, c...
    Speaker: Vikram Devgan, PhD, MBA
    Presented at: Genetics and Genomics Virtual Event Series 2014
    16
    AUG 20, 2014 | 8:00 AM
    High-resolution genomic analysis reveals genetic impacts of human papillomavirus in human cancers
    High-resolution genomic analysis reveals genetic impacts of human...
    One of the hallmarks of human cancers is genetic instability. My colleagues and I recently identified a remarkable association between human papillomavirus (HPV) and genomic structural variat...
    Speaker: David E Symer, MD, PhD
    Presented at: Genetics and Genomics Virtual Event Series 2014
    4
    MAY 29, 2014 | 12:00 PM
    Navigating the Complexities of the Human Oncoproteome with the SigNET KnowledgeBank
    Navigating the Complexities of the Human Oncoproteome with the...
    The human genome encodes ~21,500 proteins that are subject to reversible phosphorylation at nearly 1 million phosphosites by about 538 protein kinases and 156 protein phosphatases. Amongst ot...
    Speaker: Steve Pelech, PhD
    Presented at: Clinical Diagnostics & Research Virtual Event Series 2014
    46
    APR 17, 2014 | 11:00 AM
    A Novel Method of Active Paraffin Removal
    A Novel Method of Active Paraffin Removal
      Formalin Fixation and Paraffin Embedding (FFPE) of tissue samples is a routine practice by pathologists; the technique enables high quality preservation of structural information. However, ...
    Speaker: Hamid Khoja, PhD,
    Sponsored By: Covaris, Covaris
    78
     
     
  • MAR 20, 2014 | 1:00 PM
    The role of high throughput sequencing in the research and diagnosis of neurodegenerative disorders
    The role of high throughput sequencing in the research and diagnosis...
    Using high throughput next-generation sequencing to simultaneously search large number of genes for pathogenic mutations has numerous advantages. It decreases the pressure to narrow the dif...
    Speaker: Peter L Nagy, MD, PhD
    Presented at: Neuroscience Virtual Event Series 2014
    0
    MAR 20, 2014 | 12:00 PM
    The Genetics of Alzheimer's disease
    The Genetics of Alzheimer's disease
    Alzheimers disease (AD) is a common neurodegenerative disorder characterized clinically by progress decline in memory and thinking and pathologically by the presence of senile plaques and neu...
    Speaker: Alison Goate, D.Phil
    Presented at: Neuroscience Virtual Event Series 2014
    68
    MAR 20, 2014 | 7:00 AM
    Huntingtons Disease: Twenty years and counting
    Huntingtons Disease: Twenty years and counting
    Huntington's disease (HD) is a progressive, inherited, degenerative brain disorder that produces physical, mental and emotional changes. Named for George Huntington, the physician who fi...
    Speaker: Margaret Sutherland, PhD
    Presented at: Neuroscience Virtual Event Series 2014
    106
    FEB 19, 2014 | 10:00 AM
    Next-generation sequencing applications in advanced cancer samples: Experience with Ion AmpliSeq custom panels
    Next-generation sequencing applications in advanced cancer samples:...
    Making precision cancer care a future reality requires novel approachesto finding treatment targets in cancers. Single-gene assays currently performed in clinical research laboratories are in...
    Speaker: Christopher Corless, MD, PhD
    Presented at: Advanced Genomics in Clinical and Translational Research - Winter
    122
    FEB 05, 2014 | 4:00 PM
    Cryopreservation: a cold solution
    Cryopreservation: a cold solution
    The popularity reached by the genetic manipulation of laboratory animals to create new models for studying human diseases, produced in turn, that the techniques for assisted reproduction cons...
    Speaker: Jorge Sztein, DVM, PhD
    Presented at: Laboratory Animal Sciences Virtual Event Series 2014
    0
     
     
  • FEB 05, 2014 | 2:00 PM
    C.E. CREDITS
    The impact of genetic background in mouse and rat models: concerns and solutions
    The impact of genetic background in mouse and rat models: concerns...
    It is increasingly recognized that the genetic background (i.e., all genomic sequences other than the gene(s) of interest) can have profound influences on the phenotype of an animal model. I...
    Speaker: Fernando Benavides, DVM, PhD, DACLAM
    Presented at: Laboratory Animal Sciences Virtual Event Series 2014
    21
    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
    OCT 17, 2013 | 2:00 PM
    C.E. CREDITS
    Oncoproteins K-Ras and Pim kinases as molecular targets in pancreatic cancer
    Oncoproteins K-Ras and Pim kinases as molecular targets in pancreatic...
    Pancreatic cancer is the 4th most common cause of cancer deaths in the United States. Due to the aggressive nature of this cancer and the lack of biomarkers for early detection, the incidence...
    Speaker: Antonio T. Baines, PhD
    Presented at: Cancer: Research, Discovery and Therapeutics Virtual Event Series 2013
    72
    OCT 17, 2013 | 7:00 AM
    Advancing Translational Cancer Research through Automated RNASeq Sample Preparation from Archival FFPE Tissue Specimens
    Advancing Translational Cancer Research through Automated RNASeq...
    RNA-Seq allows the simultaneous observation of gene expression levels, mutations in the coding sequences, splice variants and gene fusions, which are especially important in cancer studies. A...
    Speaker: Michaela Bowden, PhD
    Presented at: Cancer: Research, Discovery and Therapeutics Virtual Event Series 2013
    98
    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 | 3:00 PM
    C.E. CREDITS
    The roles of Ack family kinases in Drosophila development
    The roles of Ack family kinases in Drosophila development
    Deregulation of ACK1, a non-receptor tyrosine kinase originally identified by its ability to bind to GTP-bound Cdc42 (hence the name: activated Cdc42-associated kinase)(Manser et al., 1993),...
    Speaker: Henry Chang, PhD
    Presented at: Cancer: Research, Discovery and Therapeutics Virtual Event Series 2013
    42
    OCT 16, 2013 | 2:00 PM
    C.E. CREDITS
    Novel therapies for ALK mutated cancers
    Novel therapies for ALK mutated cancers
    Non Small Cell Lung Cancer (NSCLC) is one of the most significant causes of cancer-related mortality worldwide. In about 6-7% of NSCLC, rearrangements involving the Anaplastic Lymphoma Kinase...
    Speaker: Roberto Chiarle, MD
    Presented at: Cancer: Research, Discovery and Therapeutics Virtual Event Series 2013
    32
    OCT 16, 2013 | 1:00 PM
    C.E. CREDITS
    Resistance to AR Signaling Inhibitors in Castration Resistant Prostate Cancer
    Resistance to AR Signaling Inhibitors in Castration Resistant...
    While androgen deprivation therapy (ADT) remains the primary treatment modality for patients with metastatic prostate cancer (PCa), treatment is uniformly marked by progression to castration-...
    Speaker: Elahe A Mostaghel, MD, PhD
    Presented at: Cancer: Research, Discovery and Therapeutics Virtual Event Series 2013
    80
    OCT 16, 2013 | 1:00 PM
    C.E. CREDITS
    Investigating tissue specificity of cancer-causing germline mutations
    Investigating tissue specificity of cancer-causing germline mutations
    The remarkable diversity we see between different cell types in the human body is governed by the specificity attained through transcriptional and epigenetic regulatory programs. Cancer is a...
    Speaker: Jessica C. Mar, PhD
    Presented at: Cancer: Research, Discovery and Therapeutics Virtual Event Series 2013
    68
    OCT 16, 2013 | 11:00 AM
    SuperSelective PCR Primers for the Detection of Rare Mutant Cancer Cells in Clinical Samples Containing Abundant Normal Cells
    SuperSelective PCR Primers for the Detection of Rare Mutant Cancer...
    "SuperSelective" primers, by virtue of their unique design, enable only a few molecules of a mutant sequence to generate amplicons in conventional, real-time PCR assays without interference...
    Speaker: Fred Kramer, PhD
    Presented at: Cancer: Research, Discovery and Therapeutics Virtual Event Series 2013
    90
     
     
  • 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
    OCT 16, 2013 | 6:00 AM
    Building an Ion AmpliSeq Colon and Lung Cancer Panel - Consortium development of a tool for clinical research applications
    Building an Ion AmpliSeq Colon and Lung Cancer Panel - Consortium...
    The knowledge of molecular alterations involved in colon carcinoma (CRC) and non-small-cell lung carcinoma (NSCLC) has significantly increased in the past few years. Molecular subgroups of t...
    Speaker: Nicola Normanno, MD
    Presented at: Cancer: Research, Discovery and Therapeutics Virtual Event Series 2013
    102
    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 21, 2013 | 4:00 PM
    C.E. CREDITS
    Development of Targeted Next Generation Sequencing for Pharmacogenomics
    Development of Targeted Next Generation Sequencing for Pharmacogenomics
    The goal of personalized medicine is to customize healthcare to the individual patient. Pharmacogenomics, the analysis of how a patient's genetic makeup affects the individual's response to c...
    Speaker: Edward Ki Yun Leung, PhD
    Presented at: Genetics and Genomics Virtual Event Series 2013
    42
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