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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

    • OCT 29, 2014 | 1:30 PM
      Protein phosphatase 2A in cell survival upon metabolic stress
      Protein phosphatase 2A in cell survival upon metabolic stress
      Tumor cells often display fundamental changes in metabolism and increase their uptake of nutrients to meet the increased bioenergetic demands of proliferation. Glucose and glutamine are two m...
      Speaker: Mei Kong, PhD
      Presented at: Cancer: Research, Discovery and Therapeutics Virtual Event Series 2014
      10
      SEP 24, 2014 | 6:00 AM
      Translational Medicine for Rare Disease: Lessons from Duchenne Muscular Dystrophy
      Translational Medicine for Rare Disease: Lessons from Duchenne...
      Duchenne Muscular Dystrophy (DMD) is an X-linked genetic disease occurring in 1 in 3,500 births, and is uniformly fatal in boys. It is caused by any one of over 50 known mutations in the gen...
      Speaker: Susan Ward, PhD
      Presented at: Advances in Drug Discovery and Development
      14
      SEP 16, 2014 | 9:30 AM
      Analysis of Oncomine Knowledgebase to identify NFE2L2 pathway as a novel therapeutic opportunity in multiple cancer types
      Analysis of Oncomine Knowledgebase to identify NFE2L2 pathway...
      Late-stage drug attrition rates in oncology remain higher than in other therapeutic areas. To reduce attrition, it is critical to identify appropriate drug targets and pre-clinical models. Th...
      Speaker: Nickolay Khazanov, PhD
      Presented at: Advanced Genomics in Clinical and Translational Research - Informing end-to-end cancer drug development with bioinformatics
      18
      SEP 10, 2014 | 10:00 AM
      NGS Lessons in Translational Diagnostics
      NGS Lessons in Translational Diagnostics
      In this webinar, we will describe a comprehensive approach for NGS-based marker discovery and the successful migration of these markers to targeted NGS assays using low-quality (FFPE) and low...
      Speaker: Gary Latham Ph.D. and Brian Haynes, Ph.D.
      Sponsored By: Asuragen, Asuragen
      48
      AUG 21, 2014 | 9:45 AM
      Pathway based analyses for genetic susceptibility to cancer and autoimmune disease
      Pathway based analyses for genetic susceptibility to cancer and...
      In this presentation I describe pathway based analyses of genotyping data to identify pathways related to the development of complex diseases, with a focus on lung cancer and selected autoimm...
      Speaker: Christopher I Amos, PhD
      Presented at: Genetics and Genomics Virtual Event Series 2014
      62
      AUG 20, 2014 | 11:45 AM
      Genetic Counseling Post-SCOTUS Patent Decision: Fast Forward
      Genetic Counseling Post-SCOTUS Patent Decision: Fast Forward
      The unanimous Supreme Court ruling of 2013 regarding gene patents made competition for BRCA1 and BRCA2 testing a reality. Within hours of the decision multiple labs began offering more compre...
      Speaker: Ellen T Matloff, MS, CGC
      Presented at: Genetics and Genomics Virtual Event Series 2014
      39
      AUG 20, 2014 | 10:45 AM
      OncoScan Assay for copy number from FFPE. Publications & cases on actionable CNV detection
      OncoScan Assay for copy number from FFPE. Publications & cases...
      A recent publication in Nature Genetics1 analyzed TCGA data, and classified solid tumors into two mutually exclusive classes: C class tumors, driven by copy number alterations; and M class tu...
      Speaker: Padma Sundar, MBA, MPH
      Presented at: Genetics and Genomics Virtual Event Series 2014
      14
      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 29, 2014 | 1:30 PM
    Protein phosphatase 2A in cell survival upon metabolic stress
    Protein phosphatase 2A in cell survival upon metabolic stress
    Tumor cells often display fundamental changes in metabolism and increase their uptake of nutrients to meet the increased bioenergetic demands of proliferation. Glucose and glutamine are two m...
    Speaker: Mei Kong, PhD
    Presented at: Cancer: Research, Discovery and Therapeutics Virtual Event Series 2014
    10
    SEP 24, 2014 | 6:00 AM
    Translational Medicine for Rare Disease: Lessons from Duchenne Muscular Dystrophy
    Translational Medicine for Rare Disease: Lessons from Duchenne...
    Duchenne Muscular Dystrophy (DMD) is an X-linked genetic disease occurring in 1 in 3,500 births, and is uniformly fatal in boys. It is caused by any one of over 50 known mutations in the gen...
    Speaker: Susan Ward, PhD
    Presented at: Advances in Drug Discovery and Development
    14
    SEP 16, 2014 | 9:30 AM
    Analysis of Oncomine Knowledgebase to identify NFE2L2 pathway as a novel therapeutic opportunity in multiple cancer types
    Analysis of Oncomine Knowledgebase to identify NFE2L2 pathway...
    Late-stage drug attrition rates in oncology remain higher than in other therapeutic areas. To reduce attrition, it is critical to identify appropriate drug targets and pre-clinical models. Th...
    Speaker: Nickolay Khazanov, PhD
    Presented at: Advanced Genomics in Clinical and Translational Research - Informing end-to-end cancer drug development with bioinformatics
    18
    SEP 10, 2014 | 10:00 AM
    NGS Lessons in Translational Diagnostics
    NGS Lessons in Translational Diagnostics
    In this webinar, we will describe a comprehensive approach for NGS-based marker discovery and the successful migration of these markers to targeted NGS assays using low-quality (FFPE) and low...
    Speaker: Gary Latham Ph.D. and Brian Haynes, Ph.D.
    Sponsored By: Asuragen, Asuragen
    48
    AUG 21, 2014 | 9:45 AM
    Pathway based analyses for genetic susceptibility to cancer and autoimmune disease
    Pathway based analyses for genetic susceptibility to cancer and...
    In this presentation I describe pathway based analyses of genotyping data to identify pathways related to the development of complex diseases, with a focus on lung cancer and selected autoimm...
    Speaker: Christopher I Amos, PhD
    Presented at: Genetics and Genomics Virtual Event Series 2014
    62
     
     
  • AUG 20, 2014 | 11:45 AM
    Genetic Counseling Post-SCOTUS Patent Decision: Fast Forward
    Genetic Counseling Post-SCOTUS Patent Decision: Fast Forward
    The unanimous Supreme Court ruling of 2013 regarding gene patents made competition for BRCA1 and BRCA2 testing a reality. Within hours of the decision multiple labs began offering more compre...
    Speaker: Ellen T Matloff, MS, CGC
    Presented at: Genetics and Genomics Virtual Event Series 2014
    39
    AUG 20, 2014 | 10:45 AM
    OncoScan Assay for copy number from FFPE. Publications & cases on actionable CNV detection
    OncoScan Assay for copy number from FFPE. Publications & cases...
    A recent publication in Nature Genetics1 analyzed TCGA data, and classified solid tumors into two mutually exclusive classes: C class tumors, driven by copy number alterations; and M class tu...
    Speaker: Padma Sundar, MBA, MPH
    Presented at: Genetics and Genomics Virtual Event Series 2014
    14
    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
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