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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

    • MAY 11, 2017 | 6:00 AM
      Precision Medicine in Juvenile Psychosis
      Precision Medicine in Juvenile Psychosis
      Boston Children’s Hospital is developing the infrastructure needed for large-scale psychiatric research and treatment discovery.   The Manton Center for Orphan Disease Research and...
      Speaker: Catherine Brownstein, PhD
      Presented at: Genetics and Genomics Virtual Event Series 2017
      1
      MAY 10, 2017 | 12:00 PM
      C.E. CREDITS
      Not all variants are created equal: what went wrong in the prediction of functional effects of exomic variation
      Not all variants are created equal: what went wrong in the prediction...
      Many computational approaches exist for predicting the effects of amino acid substitutions from protein sequence. These are often (incorrectly) used for judging disease predisposition from in...
      Speaker: Yana Bromberg, PhD
      Presented at: Genetics and Genomics Virtual Event Series 2017
      1
      MAY 10, 2017 | 4:00 AM
      Stabilization of native & functional membrane proteins for drug discovery
      Stabilization of native & functional membrane proteins for drug...
      CALIXAR has developed an innovative detergent/surfactant based approach consisting on native isolation and stabilization of therapeutic membrane protein targets such as GPCRs, ion channels, t...
      Speaker: Anass Jawhari, PhD
      Presented at: 2017 Gibco ExpressionWorld
      10 1
      MAY 09, 2017 | 8:00 AM
      WEBINAR: Deafness in the Genomic Era: Discoveries, Challenges and Opportunities
      WEBINAR: Deafness in the Genomic Era: Discoveries, Challenges...
      DATE: May 9, 2017TIME: 8:00am PT, 11:00am ETHearing loss is the most common sensory defect in humans. It affects 360 million people worldwide and by 2020, that number is predi...
      Speaker: Hela Azaiez, PhD
      Sponsored By: Agilent
      11 8
      APR 26, 2017 | 9:00 AM
      WEBINAR: Reliable Detection of Low Abundance Somatic Mutations from Heterogeneous Solid Tumor Samples
      WEBINAR: Reliable Detection of Low Abundance Somatic Mutations...
      DATE: April 26, 2017TIME: 9:00AM PT, 12:00PM ETBiopsies from non-small cell lung cancer (NSCLC) and colorectal adenocarcinoma generally produce small, heterogeneous samples with li...
      Speaker: Bobbie Collett Sutton, PhD, MD , Darryl Irwin, PhD
      Sponsored By: Agena Bioscience
      9
      APR 19, 2017 | 4:00 AM
      WEBINAR: Patient Derived Micro Tumor systems: Future Trends towards improved testing systems
      WEBINAR: Patient Derived Micro Tumor systems: Future Trends towards...
      DATE: April 20th, 2017TIME: 10:00AM SGT, 11:00AM KST, 12:00PM AEST, 2:00PM NZSTWith increasing breadth and depth of genomics studies across a range of cancers, it is now apparent that t...
      Speaker: Giridharan Periyasamy, PhD
      Sponsored By: Revvity
      8
      APR 13, 2017 | 6:00 AM
      The Pandora's box of molecular diagnostics: Genomic analysis of uterine lavage fluid detects early endometrial cancers
      The Pandora's box of molecular diagnostics: Genomic analysis of...
      Endometrial cancer is the most common gynecologic malignancy in the United States and both the incidence and associated mortality are rising. When detected early, endometrial cancer survival...
      Speaker: John Martignetti, MD, PhD
      Presented at: Molecular Diagnostics Virtual Event Series 2017
      2
      APR 12, 2017 | 7:30 AM
      Keynote Presentation - Variant interpretation in Molecular Diagnostics: Challenges and Knowledge Gaps
      Keynote Presentation - Variant interpretation in Molecular Diagnostics:...
      As next generation sequencing has lowered the price of DNA sequencing orders of magnitude below what it cost to create the first consensus human genome, the sheer diversity of human sequence...
      Speaker: Robert Nussbaum MD, FACP, FACMG
      Presented at: Molecular Diagnostics Virtual Event Series 2017
      5
      APR 11, 2017 | 8:00 AM
      WEBINAR: Enhancing Checkpoint Blockade in Lymphoma with In Situ Vaccination
      WEBINAR: Enhancing Checkpoint Blockade in Lymphoma with In Situ...
      DATE: April 11, 2017TIME: 8:00 AM PT, 11:00 AM ET Checkpoint blockade therapy for cancer has had tremendous impact on clinical outcomes, yet only a subset of patients respond....
      Speaker: Joshua Brody, MD , Michelle Poulin, PhD
      Sponsored By: Standard BioTools
      7 1
      MAR 16, 2017 | 1:30 PM
      Humans and fish to study the cellular mechanisms of neuromuscular development
      Humans and fish to study the cellular mechanisms of neuromuscular...
      Studying the genetics of rare congenital disorders disrupting cognitive function has led to the identification of multiple disease genes that helped us better understand the mechanisms underl...
      Speaker: Chiara Manzini, PhD
      Presented at: Neuroscience Virtual Event Series 2017
      1
      FEB 08, 2017 | 1:30 PM
      Managing genetically modified rodent strains: focus on the genotype and genetic background
      Managing genetically modified rodent strains: focus on the genotype...
      DATE: February 8, 2017TIME: 1:30pm PT, 4:30pm ETThe powerful and expanding use of genetically modified mice introduces important aspects of genetics in managing these strains for breedi...
      Speaker: Steve Fiering, PhD
      Presented at: Laboratory Animal Sciences Virtual Event Series 2017
      5 1
      FEB 08, 2017 | 10:30 AM
      Biosecurity, Reproductive and Social Management of Cat Research Colonies
      Biosecurity, Reproductive and Social Management of Cat Research...
      DATE: February 8, 2017TIME: 10:30am PT, 1:30pm ETThe cat remains an important comparative species for studying the long-term safety and efficacy of emergent medical modalities, such as...
      Speaker: James Kehler VMD, PhD
      Presented at: Laboratory Animal Sciences Virtual Event Series 2017
      2
      JAN 19, 2017 | 8:00 AM
      Webinar: Detecting meaningful mutations from liquid biopsies by Anchored Multiplex PCR
      Webinar: Detecting meaningful mutations from liquid biopsies by...
      DATE: January 19th, 2017TIME: 8:00AM PT, 11:00AM ETLiquid biopsies have the potential to be a less invasive method than traditional biopsies to detect advanced solid tumor mutational st...
      Speaker: Josh Stahl , Jonathan Doose
      Sponsored By: ArcherDX, ArcherDX
      9
      DEC 14, 2016 | 7:30 AM
      Advances in modeling human diseases using induced pluripotent stem cell-derived cellular models
      Advances in modeling human diseases using induced pluripotent...
      DATE: December 14, 2016 TIME: 7:30am PT, 10:30am ET A major hurdle in developing relevant disease models for drug discovery is access to the healthy and diseased tissue of interest; induc...
      Speaker: T.K. Feaster, PhD , Kile Mangan, PhD
      Sponsored By: Cellular Dynamics, Cellular Dynamics
      7 1
      DEC 13, 2016 | 8:00 AM
      Improved understanding of rainbow trout growth physiology through functional genomics
      Improved understanding of rainbow trout growth physiology through...
      DATE: December 13, 2016TIME: 8:00 AM PT, 11:00 AM ETUnderstanding physiological mechanisms regulating growth and nutrient deposition in rainbow trout is central to establish production...
      Speaker: Beth Cleveland PhD
      Sponsored By: SCIEX, SCIEX
      32
      NOV 17, 2016 | 3:00 AM
      Genetic variability of ps-iPSC and related blood and fibroblasts - somatic mutations
      Genetic variability of ps-iPSC and related blood and fibroblasts...
      The generation of induced pluripotent stem cells (iPSCs) from adult easily accessible somatic tissues was introduced ten years ago. This technology has revolutionized our opportunities to stu...
      Speaker: KEYNOTE: Silke Rickert-Sperling, PhD
      Presented at: 4th Annual 24 Hours of Stem Cellsâ„¢ virtual event
      8 1
      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 03, 2016 | 6:00 AM
      Mutation Detection Simplified: From Liquid Biopsy in clinical oncology to the detection of Drug Resistance Associated Mutations in virology
      Mutation Detection Simplified: From Liquid Biopsy in clinical...
      Sanger sequencing and polymerase chain reaction (PCR) methods have been the standard molecular methods in clinical diagnostics for decades.  Next-Generation Sequencing (NGS) technology r...
      Speaker: Gerd Michel, PhD , Lou Welebob
      Presented at: Clinical Diagnostics & Research Virtual Event Series 2016
      5
      NOV 02, 2016 | 10:30 AM
      Tough Targets. Simple Genotyping. Using HRM as a direct approach in research applications.
      Tough Targets. Simple Genotyping. Using HRM as a direct approach...
      Are there DNA targets in your lab that are difficult to genotype using standard PCR or sequencing?Do you ever need to genotype a single sample, and you don’t want to wait to batch sam...
      Speaker: Brian McNally, PhD
      Presented at: Clinical Diagnostics & Research Virtual Event Series 2016
      2
      OCT 18, 2016 | 1:00 PM
      Human Neural Organoids: "NexGen" Predictive and Personalized Regenerative Medicine Models of Brain Diseases
      Human Neural Organoids: "NexGen" Predictive and Personalized Regenerative...
      Induced pluripotent stem cells derived from patient cells have emerged as complementary tools to study human neurological disorders.  Neurxstem Inc has generated human iPSC-derived synth...
      Speaker: Rene Anand, PhD
      Presented at: SyncD³ - Where drug discovery & development meet
      0
      OCT 18, 2016 | 12:30 PM
      Tools for the Interrogation of LRRK2 in Parkinson's Disease
      Tools for the Interrogation of LRRK2 in Parkinson's Disease
      The study of target-focused, disease relevant biology for drug discovery requires a comprehensive suite of tools that allow multiple aspects of the biology to be assessed.  Thermo Fisher...
      Speaker: Kurt Vogel, PhD
      Presented at: SyncD³ - Where drug discovery & development meet
      0
      OCT 06, 2016 | 7:30 AM
      Keynote Speaker: Reference Component Analysis of Single Cell Transcriptomes Reveals Cellular Heterogeneity in Colorectal Cancer
      Keynote Speaker: Reference Component Analysis of Single Cell Transcriptomes...
      Intra-tumor heterogeneity is a major obstacle to cancer treatment. Existing single-cell studies of intra-tumor heterogeneity have largely focused on DNA mutations; functional heterogeneity is...
      Speaker: Shyam Prabhakar, PhD
      Presented at: Cancer Research & Oncology Week Virtual Event Series 2016
      2
      OCT 06, 2016 | 6:00 AM
      Heterogeneity and Resistance Mechanisms in Advanced Prostate Cancer
      Heterogeneity and Resistance Mechanisms in Advanced Prostate Cancer
      Over the past 6 years, a number of agents, all mechanistically different, have been approved with a statistically significant survival benefit as monotherapy for treatment of metastatic castr...
      Speaker: Raoul S. Concepcion, MD, FACS
      Presented at: Cancer Research & Oncology Week Virtual Event Series 2016
      2
      OCT 05, 2016 | 12:00 PM
      Sensitive and Specific, Multiplex, Real-Time PCR Assays for Assessing the Abundance  of Extremely Rare Mutations Associated with Cancer Diagnosis, Prognosis, and Therapy
      Sensitive and Specific, Multiplex, Real-Time PCR Assays for Assessing...
      Real-time multiplex PCR assays are potentially the most rapid, most sensitive,and least expensive way to assess the abundance of mutant DNA fragments present in liquid biopsies; provided th...
      Speaker: Fred Kramer, PhD
      Presented at: Cancer Research & Oncology Week Virtual Event Series 2016
      2
    MAY 11, 2017 | 6:00 AM
    Precision Medicine in Juvenile Psychosis
    Precision Medicine in Juvenile Psychosis
    Boston Children’s Hospital is developing the infrastructure needed for large-scale psychiatric research and treatment discovery.   The Manton Center for Orphan Disease Research and...
    Speaker: Catherine Brownstein, PhD
    Presented at: Genetics and Genomics Virtual Event Series 2017
    1
    MAY 10, 2017 | 12:00 PM
    C.E. CREDITS
    Not all variants are created equal: what went wrong in the prediction of functional effects of exomic variation
    Not all variants are created equal: what went wrong in the prediction...
    Many computational approaches exist for predicting the effects of amino acid substitutions from protein sequence. These are often (incorrectly) used for judging disease predisposition from in...
    Speaker: Yana Bromberg, PhD
    Presented at: Genetics and Genomics Virtual Event Series 2017
    1
    MAY 10, 2017 | 4:00 AM
    Stabilization of native & functional membrane proteins for drug discovery
    Stabilization of native & functional membrane proteins for drug...
    CALIXAR has developed an innovative detergent/surfactant based approach consisting on native isolation and stabilization of therapeutic membrane protein targets such as GPCRs, ion channels, t...
    Speaker: Anass Jawhari, PhD
    Presented at: 2017 Gibco ExpressionWorld
    10 1
    MAY 09, 2017 | 8:00 AM
    WEBINAR: Deafness in the Genomic Era: Discoveries, Challenges and Opportunities
    WEBINAR: Deafness in the Genomic Era: Discoveries, Challenges...
    DATE: May 9, 2017TIME: 8:00am PT, 11:00am ETHearing loss is the most common sensory defect in humans. It affects 360 million people worldwide and by 2020, that number is predi...
    Speaker: Hela Azaiez, PhD
    Sponsored By: Agilent
    11 8
    APR 26, 2017 | 9:00 AM
    WEBINAR: Reliable Detection of Low Abundance Somatic Mutations from Heterogeneous Solid Tumor Samples
    WEBINAR: Reliable Detection of Low Abundance Somatic Mutations...
    DATE: April 26, 2017TIME: 9:00AM PT, 12:00PM ETBiopsies from non-small cell lung cancer (NSCLC) and colorectal adenocarcinoma generally produce small, heterogeneous samples with li...
    Speaker: Bobbie Collett Sutton, PhD, MD , Darryl Irwin, PhD
    Sponsored By: Agena Bioscience
    9
     
     
  • APR 19, 2017 | 4:00 AM
    WEBINAR: Patient Derived Micro Tumor systems: Future Trends towards improved testing systems
    WEBINAR: Patient Derived Micro Tumor systems: Future Trends towards...
    DATE: April 20th, 2017TIME: 10:00AM SGT, 11:00AM KST, 12:00PM AEST, 2:00PM NZSTWith increasing breadth and depth of genomics studies across a range of cancers, it is now apparent that t...
    Speaker: Giridharan Periyasamy, PhD
    Sponsored By: Revvity
    8
    APR 13, 2017 | 6:00 AM
    The Pandora's box of molecular diagnostics: Genomic analysis of uterine lavage fluid detects early endometrial cancers
    The Pandora's box of molecular diagnostics: Genomic analysis of...
    Endometrial cancer is the most common gynecologic malignancy in the United States and both the incidence and associated mortality are rising. When detected early, endometrial cancer survival...
    Speaker: John Martignetti, MD, PhD
    Presented at: Molecular Diagnostics Virtual Event Series 2017
    2
    APR 12, 2017 | 7:30 AM
    Keynote Presentation - Variant interpretation in Molecular Diagnostics: Challenges and Knowledge Gaps
    Keynote Presentation - Variant interpretation in Molecular Diagnostics:...
    As next generation sequencing has lowered the price of DNA sequencing orders of magnitude below what it cost to create the first consensus human genome, the sheer diversity of human sequence...
    Speaker: Robert Nussbaum MD, FACP, FACMG
    Presented at: Molecular Diagnostics Virtual Event Series 2017
    5
    APR 11, 2017 | 8:00 AM
    WEBINAR: Enhancing Checkpoint Blockade in Lymphoma with In Situ Vaccination
    WEBINAR: Enhancing Checkpoint Blockade in Lymphoma with In Situ...
    DATE: April 11, 2017TIME: 8:00 AM PT, 11:00 AM ET Checkpoint blockade therapy for cancer has had tremendous impact on clinical outcomes, yet only a subset of patients respond....
    Speaker: Joshua Brody, MD , Michelle Poulin, PhD
    Sponsored By: Standard BioTools
    7 1
    MAR 16, 2017 | 1:30 PM
    Humans and fish to study the cellular mechanisms of neuromuscular development
    Humans and fish to study the cellular mechanisms of neuromuscular...
    Studying the genetics of rare congenital disorders disrupting cognitive function has led to the identification of multiple disease genes that helped us better understand the mechanisms underl...
    Speaker: Chiara Manzini, PhD
    Presented at: Neuroscience Virtual Event Series 2017
    1
     
     
  • FEB 08, 2017 | 1:30 PM
    Managing genetically modified rodent strains: focus on the genotype and genetic background
    Managing genetically modified rodent strains: focus on the genotype...
    DATE: February 8, 2017TIME: 1:30pm PT, 4:30pm ETThe powerful and expanding use of genetically modified mice introduces important aspects of genetics in managing these strains for breedi...
    Speaker: Steve Fiering, PhD
    Presented at: Laboratory Animal Sciences Virtual Event Series 2017
    5 1
    FEB 08, 2017 | 10:30 AM
    Biosecurity, Reproductive and Social Management of Cat Research Colonies
    Biosecurity, Reproductive and Social Management of Cat Research...
    DATE: February 8, 2017TIME: 10:30am PT, 1:30pm ETThe cat remains an important comparative species for studying the long-term safety and efficacy of emergent medical modalities, such as...
    Speaker: James Kehler VMD, PhD
    Presented at: Laboratory Animal Sciences Virtual Event Series 2017
    2
    JAN 19, 2017 | 8:00 AM
    Webinar: Detecting meaningful mutations from liquid biopsies by Anchored Multiplex PCR
    Webinar: Detecting meaningful mutations from liquid biopsies by...
    DATE: January 19th, 2017TIME: 8:00AM PT, 11:00AM ETLiquid biopsies have the potential to be a less invasive method than traditional biopsies to detect advanced solid tumor mutational st...
    Speaker: Josh Stahl , Jonathan Doose
    Sponsored By: ArcherDX, ArcherDX
    9
    DEC 14, 2016 | 7:30 AM
    Advances in modeling human diseases using induced pluripotent stem cell-derived cellular models
    Advances in modeling human diseases using induced pluripotent...
    DATE: December 14, 2016 TIME: 7:30am PT, 10:30am ET A major hurdle in developing relevant disease models for drug discovery is access to the healthy and diseased tissue of interest; induc...
    Speaker: T.K. Feaster, PhD , Kile Mangan, PhD
    Sponsored By: Cellular Dynamics, Cellular Dynamics
    7 1
    DEC 13, 2016 | 8:00 AM
    Improved understanding of rainbow trout growth physiology through functional genomics
    Improved understanding of rainbow trout growth physiology through...
    DATE: December 13, 2016TIME: 8:00 AM PT, 11:00 AM ETUnderstanding physiological mechanisms regulating growth and nutrient deposition in rainbow trout is central to establish production...
    Speaker: Beth Cleveland PhD
    Sponsored By: SCIEX, SCIEX
    32
     
     
  • NOV 17, 2016 | 3:00 AM
    Genetic variability of ps-iPSC and related blood and fibroblasts - somatic mutations
    Genetic variability of ps-iPSC and related blood and fibroblasts...
    The generation of induced pluripotent stem cells (iPSCs) from adult easily accessible somatic tissues was introduced ten years ago. This technology has revolutionized our opportunities to stu...
    Speaker: KEYNOTE: Silke Rickert-Sperling, PhD
    Presented at: 4th Annual 24 Hours of Stem Cellsâ„¢ virtual event
    8 1
    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 03, 2016 | 6:00 AM
    Mutation Detection Simplified: From Liquid Biopsy in clinical oncology to the detection of Drug Resistance Associated Mutations in virology
    Mutation Detection Simplified: From Liquid Biopsy in clinical...
    Sanger sequencing and polymerase chain reaction (PCR) methods have been the standard molecular methods in clinical diagnostics for decades.  Next-Generation Sequencing (NGS) technology r...
    Speaker: Gerd Michel, PhD , Lou Welebob
    Presented at: Clinical Diagnostics & Research Virtual Event Series 2016
    5
    NOV 02, 2016 | 10:30 AM
    Tough Targets. Simple Genotyping. Using HRM as a direct approach in research applications.
    Tough Targets. Simple Genotyping. Using HRM as a direct approach...
    Are there DNA targets in your lab that are difficult to genotype using standard PCR or sequencing?Do you ever need to genotype a single sample, and you don’t want to wait to batch sam...
    Speaker: Brian McNally, PhD
    Presented at: Clinical Diagnostics & Research Virtual Event Series 2016
    2
    OCT 18, 2016 | 1:00 PM
    Human Neural Organoids: "NexGen" Predictive and Personalized Regenerative Medicine Models of Brain Diseases
    Human Neural Organoids: "NexGen" Predictive and Personalized Regenerative...
    Induced pluripotent stem cells derived from patient cells have emerged as complementary tools to study human neurological disorders.  Neurxstem Inc has generated human iPSC-derived synth...
    Speaker: Rene Anand, PhD
    Presented at: SyncD³ - Where drug discovery & development meet
    0
     
     
  • OCT 18, 2016 | 12:30 PM
    Tools for the Interrogation of LRRK2 in Parkinson's Disease
    Tools for the Interrogation of LRRK2 in Parkinson's Disease
    The study of target-focused, disease relevant biology for drug discovery requires a comprehensive suite of tools that allow multiple aspects of the biology to be assessed.  Thermo Fisher...
    Speaker: Kurt Vogel, PhD
    Presented at: SyncD³ - Where drug discovery & development meet
    0
    OCT 06, 2016 | 7:30 AM
    Keynote Speaker: Reference Component Analysis of Single Cell Transcriptomes Reveals Cellular Heterogeneity in Colorectal Cancer
    Keynote Speaker: Reference Component Analysis of Single Cell Transcriptomes...
    Intra-tumor heterogeneity is a major obstacle to cancer treatment. Existing single-cell studies of intra-tumor heterogeneity have largely focused on DNA mutations; functional heterogeneity is...
    Speaker: Shyam Prabhakar, PhD
    Presented at: Cancer Research & Oncology Week Virtual Event Series 2016
    2
    OCT 06, 2016 | 6:00 AM
    Heterogeneity and Resistance Mechanisms in Advanced Prostate Cancer
    Heterogeneity and Resistance Mechanisms in Advanced Prostate Cancer
    Over the past 6 years, a number of agents, all mechanistically different, have been approved with a statistically significant survival benefit as monotherapy for treatment of metastatic castr...
    Speaker: Raoul S. Concepcion, MD, FACS
    Presented at: Cancer Research & Oncology Week Virtual Event Series 2016
    2
    OCT 05, 2016 | 12:00 PM
    Sensitive and Specific, Multiplex, Real-Time PCR Assays for Assessing the Abundance  of Extremely Rare Mutations Associated with Cancer Diagnosis, Prognosis, and Therapy
    Sensitive and Specific, Multiplex, Real-Time PCR Assays for Assessing...
    Real-time multiplex PCR assays are potentially the most rapid, most sensitive,and least expensive way to assess the abundance of mutant DNA fragments present in liquid biopsies; provided th...
    Speaker: Fred Kramer, PhD
    Presented at: Cancer Research & Oncology Week Virtual Event Series 2016
    2
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