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    Gene mutations

    Gene mutations describe a change in the DNA sequence that makes up a gene. There are many kinds of gene mutations which have been characterized by scientists. The main categories of mutations are germline mutations, which occur in the gametes (haploid male or female reproductive cells), and somatic mutations, occur in all other cell types. Chromosomal alterations are mutations that change the structure of chromosomes in a variety of ways such as deletion, duplication, insertion, translocation, or inversion of a section of the chromosome. Point mutations include a single nucleotide change within the DNA and these mutations can be classified as silent (the mutation codes for the same amino acid so the change has no effect), missense (the mutation codes for an alternative amino acid), and nonsense (the mutation codes for a premature stop codon). Frameshift mutations occur when the addition or deletion of nucleotide(s) alter the reading frame of the sequence altering all subsequent amino acid coding.

    Webinars

    • MAY 13, 2015 | 3:00 PM
      Population genomics of sex chromosome evolution
      Population genomics of sex chromosome evolution
      There is tremendous sexual dimorphism in human genetic disease susceptibility, progression, and drug response. It is thus alarming that most genome-wide association studies exclude the most s...
      Speaker: Melissa A Wilson Sayres, PhD
      Presented at: Genetics and Genomics Virtual Event Series 2015
      0
      MAY 13, 2015 | 1:30 PM
      Epigenomics of common, rare, and somatic variants underlying disease and cancer
      Epigenomics of common, rare, and somatic variants underlying disease...
      Perhaps the greatest surprise of genetic studies of human disease is that 90% of top-scoring disease-associated loci lie outside protein-coding regions. This has increased the urgency of mapp...
      Speaker: Manolis Kellis, PhD
      Presented at: Genetics and Genomics Virtual Event Series 2015
      4
      OCT 30, 2014 | 10:30 AM
      Genomics in the Clinic: Promises and Challenges
      Genomics in the Clinic: Promises and Challenges
      Uncovering the genetic lesions underpinning cancer through genomic profiling in a clinical setting could provide insights into possible treatment options for oncologists and their patients. N...
      Speaker: John Carpten, PhD
      Presented at: Cancer: Research, Discovery and Therapeutics Virtual Event Series 2014
      12
      OCT 30, 2014 | 9:00 AM
      A head-to-head comparison of whole blood derived samples (cfDNA vs CTC DNA) for cancer research using next-generation sequencing
      A head-to-head comparison of whole blood derived samples (cfDNA...
      Both cell free DNA (cfDNA) and circulating tumor cells (CTC) represent important possible templates for mutation analysis of clinical samples. Each template has different theoretical advantag...
      Speaker: Paul W. Dempsey, PhD
      Presented at: Cancer: Research, Discovery and Therapeutics Virtual Event Series 2014
      0
      OCT 30, 2014 | 6:00 AM
      Epigenetic Dysregulation in the Pathogenesis of Myeloproliferative Neoplasms
      Epigenetic Dysregulation in the Pathogenesis of Myeloproliferative...
      When the BCR/ABL1 fusion protein was identified in chronic myelogenous leukemia and the JAK2 V617F mutation was identified in patients with other myeloproliferative neoplasms (MPNs) such as p...
      Speaker: Kristin Landis-Piwowar, PhD, MLS
      Presented at: Cancer: Research, Discovery and Therapeutics Virtual Event Series 2014
      8
      OCT 29, 2014 | 3:00 PM
      Drug-tailored, efficacy-predictive and prognostic biomarker approaches for proper patient selection
      Drug-tailored, efficacy-predictive and prognostic biomarker approaches...
      Over the last decade we have witnessed tremendous advances in our understanding of the underlying molecular alterations in human cancer. This has stimulated excitement for our ability to deve...
      Speaker: Peter Blume-Jensen, MD, PhD
      Presented at: Cancer: Research, Discovery and Therapeutics Virtual Event Series 2014
      0
      OCT 29, 2014 | 1:30 PM
      PDX Tumor Models for Oncology Research and Preclinical Prediction
      PDX Tumor Models for Oncology Research and Preclinical Prediction
      Patient-derived xenograft (PDX) models can recapitulate patient tumor histopathology, mutational status, gene expression patterns, and drug response with remarkable fidelity. At The Jackson L...
      Speaker: Walter Ausserer, PhD
      Presented at: Cancer: Research, Discovery and Therapeutics Virtual Event Series 2014
      50
      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
      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
    MAY 13, 2015 | 3:00 PM
    Population genomics of sex chromosome evolution
    Population genomics of sex chromosome evolution
    There is tremendous sexual dimorphism in human genetic disease susceptibility, progression, and drug response. It is thus alarming that most genome-wide association studies exclude the most s...
    Speaker: Melissa A Wilson Sayres, PhD
    Presented at: Genetics and Genomics Virtual Event Series 2015
    0
    MAY 13, 2015 | 1:30 PM
    Epigenomics of common, rare, and somatic variants underlying disease and cancer
    Epigenomics of common, rare, and somatic variants underlying disease...
    Perhaps the greatest surprise of genetic studies of human disease is that 90% of top-scoring disease-associated loci lie outside protein-coding regions. This has increased the urgency of mapp...
    Speaker: Manolis Kellis, PhD
    Presented at: Genetics and Genomics Virtual Event Series 2015
    4
    OCT 30, 2014 | 10:30 AM
    Genomics in the Clinic: Promises and Challenges
    Genomics in the Clinic: Promises and Challenges
    Uncovering the genetic lesions underpinning cancer through genomic profiling in a clinical setting could provide insights into possible treatment options for oncologists and their patients. N...
    Speaker: John Carpten, PhD
    Presented at: Cancer: Research, Discovery and Therapeutics Virtual Event Series 2014
    12
    OCT 30, 2014 | 9:00 AM
    A head-to-head comparison of whole blood derived samples (cfDNA vs CTC DNA) for cancer research using next-generation sequencing
    A head-to-head comparison of whole blood derived samples (cfDNA...
    Both cell free DNA (cfDNA) and circulating tumor cells (CTC) represent important possible templates for mutation analysis of clinical samples. Each template has different theoretical advantag...
    Speaker: Paul W. Dempsey, PhD
    Presented at: Cancer: Research, Discovery and Therapeutics Virtual Event Series 2014
    0
    OCT 30, 2014 | 6:00 AM
    Epigenetic Dysregulation in the Pathogenesis of Myeloproliferative Neoplasms
    Epigenetic Dysregulation in the Pathogenesis of Myeloproliferative...
    When the BCR/ABL1 fusion protein was identified in chronic myelogenous leukemia and the JAK2 V617F mutation was identified in patients with other myeloproliferative neoplasms (MPNs) such as p...
    Speaker: Kristin Landis-Piwowar, PhD, MLS
    Presented at: Cancer: Research, Discovery and Therapeutics Virtual Event Series 2014
    8
     
     
  • OCT 29, 2014 | 3:00 PM
    Drug-tailored, efficacy-predictive and prognostic biomarker approaches for proper patient selection
    Drug-tailored, efficacy-predictive and prognostic biomarker approaches...
    Over the last decade we have witnessed tremendous advances in our understanding of the underlying molecular alterations in human cancer. This has stimulated excitement for our ability to deve...
    Speaker: Peter Blume-Jensen, MD, PhD
    Presented at: Cancer: Research, Discovery and Therapeutics Virtual Event Series 2014
    0
    OCT 29, 2014 | 1:30 PM
    PDX Tumor Models for Oncology Research and Preclinical Prediction
    PDX Tumor Models for Oncology Research and Preclinical Prediction
    Patient-derived xenograft (PDX) models can recapitulate patient tumor histopathology, mutational status, gene expression patterns, and drug response with remarkable fidelity. At The Jackson L...
    Speaker: Walter Ausserer, PhD
    Presented at: Cancer: Research, Discovery and Therapeutics Virtual Event Series 2014
    50
    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
    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
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