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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 07, 2018 | 10:00 AM
      Managing CMV Infection and Realizing Operational Efficiencies in your Laboratory
      Managing CMV Infection and Realizing Operational Efficiencies...
      Part of the Transplant Education Webinar Series, PACE accredited, Open May 7th, 2018 at 10:30am PDT, 1:30pm EDT...
      Speaker: Dr. John McKinnon, MD, MSc , Dr. Frederick (Rick) Nolte, PhD
      Sponsored By: Abbott Molecular Diagnostic
      9
      APR 12, 2018 | 10:30 AM
      The Genome in 3D: A Clinical Biomarker Platform
      The Genome in 3D: A Clinical Biomarker Platform
      In genomics, as in life, you need to be in the right place at the right time, and you need integrity, to be credible. Since the availability of the human genome sequence, there's been an...
      Speaker: Kevin Little, PhD
      Presented at: Molecular Diagnostics Virtual Event Series 2018
      1
      APR 12, 2018 | 9:00 AM
      QIAseq Digital Sequencing and Biomedical Genomics Workbench: Application to Liquid Biopsy in Bladder Cancer Research
      QIAseq Digital Sequencing and Biomedical Genomics Workbench: Application...
      This presentation illustrates the features of QIAGEN sample to insight approach, and how it combines a powerful chemistry based on unique molecular indexes (UMIs) and a UMI-aware bioinformati...
      Speaker: Francesco Lescai, PhD, EDBT
      Presented at: Molecular Diagnostics Virtual Event Series 2018
      Sponsored By: QIAGEN Molecular Diagnostics
      1
      APR 12, 2018 | 7:30 AM
      Keynote Presentation: Molecular Testing for Hereditary-Familial Prostate Cancer and for Risk Assessment in Localized Disease
      Keynote Presentation: Molecular Testing for Hereditary-Familial...
      Prostate cancer is one of the most common cancers in men and a major health issue in the US and Worldwide.  Until recently, prostate cancer was not felt to be a hereditary disease.  ...
      Speaker: Judd W Moul, MD, FACS
      Presented at: Molecular Diagnostics Virtual Event Series 2018
      1
      MAR 29, 2018 | 1:30 PM
      Cannabidiol Treatment of Epilepsy and Autism Through Restoration of GABAergic Signaling
      Cannabidiol Treatment of Epilepsy and Autism Through Restoration...
      Cannabidiol (CBD) has emerged as a promising anti-epileptic drug in otherwise treatment-resistant genetic epileptic disorders. However, the clinical trials have been limited by their use of C...
      Speaker: Joshua Kaplan, PhD
      Presented at: Cannabis Sciences Virtual Event Series 2018
      3
      MAR 15, 2018 | 1:30 PM
      Rare Inherited Mutations in Autism Spectrum Disorder
      Rare Inherited Mutations in Autism Spectrum Disorder
      Autism spectrum disorder (ASD) is a complex group of individually rare neurological conditions with genetic and non-genetic causes. Despite the strong genetic component of ASD, it has been ve...
      Speaker: Maria Chahrour, PhD
      Presented at: Neuroscience Virtual Event Series 2018
      2
      MAR 15, 2018 | 10:30 AM
      Overcoming Hurdles in the Study of Rare Diseases: Innovative Strategies for Novel Therapy Development
      Overcoming Hurdles in the Study of Rare Diseases: Innovative Strategies...
      The study of rare, neurological disorder and the development of effect treatments can pose many unique challenges. A paucity of scientists working on these disorders often limits forward prog...
      Speaker: Jill Weimer, PhD
      Presented at: Neuroscience Virtual Event Series 2018
      1
      MAR 14, 2018 | 10:30 AM
      Studying Sex-Specific Signaling to Understand Male Bias in Neurodevelopmental Disorders
      Studying Sex-Specific Signaling to Understand Male Bias in Neurodevelopmental...
      Since its initial description more than 70 years ago, autism spectrum disorder (ASD) has been diagnosed more frequently in boys. However, we remain unsure of why males are affected in greater...
      Speaker: Chiara Manzini, PhD
      Presented at: Neuroscience Virtual Event Series 2018
      1
      MAR 01, 2018 | 12:00 AM
      Human PSC-based disease modeling to study X-linked Dystonia-Parkinsonism
      Human PSC-based disease modeling to study X-linked Dystonia-Parkinsonism
      The isolation of human embryonic stem cells (hESCs) and the discovery of human induced pluripotent stem cell (hiPSC) reprogramming have sparked a renaissance in stem cell biology, in vitro di...
      Speaker: William Hendriks
      Presented at: 6th annual 24 Hours of Stem Cellsâ„¢ virtual event
      2
      FEB 22, 2018 | 9:00 AM
      Investigating colorectal cancer using epithelial organoid cultures
      Investigating colorectal cancer using epithelial organoid cultures
      DATE: February 22, 2018TIME: 09:00am PST, 12:00pm EST, 06:00pm CEST(Europe)Colorectal cancer (CRC) develops during a multi-step process from small lesions of the intestinal epithelium....
      Speaker: Kai Kretzschmar, PhD
      Sponsored By: Thermo Fisher Scientific/Gibco
      9 3
      FEB 22, 2018 | 7:30 AM
      Keynote Presentation: Predictive Biomarkers to Diagnostic Tests - Scientific and Regulatory Consideration in Development of Companion Diagnostic Tests
      Keynote Presentation: Predictive Biomarkers to Diagnostic Tests...
      The path form biomarker discovery to conversion to a clinically useful companion diagnostic test presents many challenges. The talk will outline the regulatory requirements to developing a su...
      Speaker: Janaki Veeraraghavan, PhD
      Presented at: Drug Discovery Virtual Event Series 2018
      1
      FEB 22, 2018 | 6:00 AM
      Developing Personalized Cancer Neoantigen Vaccines
      Developing Personalized Cancer Neoantigen Vaccines
      Vaccibody has developed a unique platform technology able to substantially potentiate vaccines by an inherent mechanism that attract, activate and deliver antigens to antigen presenting cells...
      Speaker: Agnete Fredriksen, MSc, PhD
      Presented at: Drug Discovery Virtual Event Series 2018
      1
      FEB 21, 2018 | 12:00 PM
      Allosteric Modulation of Metabotropic Glutamate Receptors for the Treatment of Neurodevelopmental Disorders
      Allosteric Modulation of Metabotropic Glutamate Receptors for...
      Rett syndrome (RTT) is a neurodevelopmental disorder caused by mutations in the Methyl CpG Binding Protein 2 (MECP2) gene. In mouse models of RTT, deficits in long-term potentiation (LTP) at...
      Speaker: Colleen Niswender, PhD
      Presented at: Drug Discovery Virtual Event Series 2018
      1
      JAN 25, 2018 | 8:00 AM
      WEBINAR:  Understanding Immunosuppressive Myeloid Cells and Immunotherapy using Proteome Profilerâ„¢ Arrays
      WEBINAR: Understanding Immunosuppressive Myeloid Cells and Immunotherapy...
      DATE: January 25, 2018TIME:  8:00AM PST, 10:00AM CSTProstate cancer (PCa) is the most common noncutaneous malignancy in men in the US. A significant fraction of advanced PCa treate...
      Speaker: Xin Lu, PhD
      Sponsored By: ACD - A Bio-Techne Brand
      6
      JAN 18, 2018 | 8:00 AM
      Unravel the exome odyssey: overcome the challenges of exon-level CNV detection
      Unravel the exome odyssey: overcome the challenges of exon-level...
      Current exon-level arrays and NGS techniques for CNV detection are plagued with a high number of false-positive calls and are challenging...
      Speaker: Alka Chaubey, PhD, FACMG , Kristina Cusmano-Ozog, MD
      Sponsored By: Thermo Fisher Scientific - Applied Biosystems
      8
      JAN 01, 2018 | 10:00 AM
      Disease modelling with human pluripotent stem cells: general principles and specific applications to obesity
      Disease modelling with human pluripotent stem cells: general principles...
      The capacity to generate disease-relevant cell populations from human pluripotent stem cells has tremendous potential for shedding light on human disease mechanisms. I will discuss basic prin...
      Speaker: Florian Merkle
      Presented at: 6th annual 24 Hours of Stem Cellsâ„¢ virtual event
      2
      DEC 05, 2017 | 6:00 AM
      WEBINAR: Androgen signaling in advanced prostate cancer models using noninvasive hyper polarized MRI and mass spectrometry
      WEBINAR: Androgen signaling in advanced prostate cancer models...
      DATE: December 5th, 2017TIME:  6:00AM PTAndrogen receptor (AR) signaling remains a driver in the lethal phenotype of prostate cancer, castrate resistant prostate cancer (CRPC). Nov...
      Speaker: Mark Titus, PhD
      Sponsored By: Agilent
      4
      DEC 01, 2017 | 12:00 AM
      Beyond Automated iPSC reprogramming: applications for a fully automated cell culture system for pluripotent stem cell research
      Beyond Automated iPSC reprogramming: applications for a fully...
      The use of pluripotent stem cells is dramatically altering the R&D landscape, providing new insights into both the basic biology of disease progression and novel cell types for pharmaceut...
      Speaker: Daniel Paull
      Presented at: 6th annual 24 Hours of Stem Cellsâ„¢ virtual event
      1
      NOV 29, 2017 | 10:00 AM
      WEBINAR: RAS Oncoproteins: Therapeutic Vulnerabilities
      WEBINAR: RAS Oncoproteins: Therapeutic Vulnerabilities
      DATE: November 29, 2017TIME: 10:00 AM PSTThe three human RAS genes (HRAS, KRAS and NRAS) encode four highly related RAS small GTPases (HRAS, KRAS4A, KRAS4B and NRAS). RAS proteins funct...
      Speaker: Adrienne Cox, PhD
      Sponsored By: ACD - A Bio-Techne Brand
      7 2
      NOV 09, 2017 | 4:00 AM
      Human pluripotent stem cells in understanding genetic cardiovascular disease and effects of drugs
      Human pluripotent stem cells in understanding genetic cardiovascular...
      Derivation of many different cell types from human pluripotent stem cells (embryonic stem cells or HESCs and induced pluripotent stem cells or hiPS cells) is an area of growing interest both ...
      Speaker: Christine Mummery
      Presented at: 5th annual 24 Hours of Stem Cellsâ„¢ virtual event
      4 1
      NOV 08, 2017 | 1:30 PM
      Rapid Variant Interpretation and Reporting Using the QIAGEN Knowledgebase and QIAGEN Clinical Insight - Interpret (QCI-I)
      Rapid Variant Interpretation and Reporting Using the QIAGEN Knowledgebase...
      The advent of next generation sequencing has transformed the way we identify mutations with clinical implications. As the compendium of variants expands, gathering the most current and accura...
      Speaker: Jennifer Poitras, PhD
      Presented at: Clinical Diagnostics & Research Virtual Event Series 2017
      1
      NOV 08, 2017 | 12:00 PM
      Combined immunohistochemistry and RNA in situ hybridization to elucidate tumor molecular heterogeneity in prostate cancer
      Combined immunohistochemistry and RNA in situ hybridization to...
      Currently, prostate cancer is the second leading cause of death from cancer in North America, the most frequent malignancy in men from all ethnicities, surpassing lung cancer. Prostate tumors...
      Speaker: Nallasivam Palanisamy, PhD
      Presented at: Clinical Diagnostics & Research Virtual Event Series 2017
      Sponsored By: Advanced Cell Diagnostics
      3
      NOV 02, 2017 | 10:00 AM
      WEBINAR: A CRISPR Way of Making Mice
      WEBINAR: A CRISPR Way of Making Mice
      DATE: November 2, 2017TIME: 10:00am PDT, 1:00pm EDTA CRISPR Way of Making MiceThe bulk of genetic variation associated with human disease exists in the noncoding genome, much of whi...
      Speaker: Joe Miano, PhD
      Sponsored By: Synthego
      12 1
      OCT 12, 2017 | 12:00 PM
      Comprehensive genomic and transcriptomic analysis of acral melanoma: A path towards therapeutic development
      Comprehensive genomic and transcriptomic analysis of acral melanoma:...
      Acral lentiginous melanoma (ALM) is a rare sun-shielded melanoma subtype associated with worse survival than cutaneous melanoma (CM), a more common form of skin cancer linked to exposure to u...
      Speaker: Winnie Liang, PhD
      Presented at: Cancer Research & Oncology Week Virtual Event Series 2017
      1
    MAY 07, 2018 | 10:00 AM
    Managing CMV Infection and Realizing Operational Efficiencies in your Laboratory
    Managing CMV Infection and Realizing Operational Efficiencies...
    Part of the Transplant Education Webinar Series, PACE accredited, Open May 7th, 2018 at 10:30am PDT, 1:30pm EDT...
    Speaker: Dr. John McKinnon, MD, MSc , Dr. Frederick (Rick) Nolte, PhD
    Sponsored By: Abbott Molecular Diagnostic
    9
    APR 12, 2018 | 10:30 AM
    The Genome in 3D: A Clinical Biomarker Platform
    The Genome in 3D: A Clinical Biomarker Platform
    In genomics, as in life, you need to be in the right place at the right time, and you need integrity, to be credible. Since the availability of the human genome sequence, there's been an...
    Speaker: Kevin Little, PhD
    Presented at: Molecular Diagnostics Virtual Event Series 2018
    1
    APR 12, 2018 | 9:00 AM
    QIAseq Digital Sequencing and Biomedical Genomics Workbench: Application to Liquid Biopsy in Bladder Cancer Research
    QIAseq Digital Sequencing and Biomedical Genomics Workbench: Application...
    This presentation illustrates the features of QIAGEN sample to insight approach, and how it combines a powerful chemistry based on unique molecular indexes (UMIs) and a UMI-aware bioinformati...
    Speaker: Francesco Lescai, PhD, EDBT
    Presented at: Molecular Diagnostics Virtual Event Series 2018
    Sponsored By: QIAGEN Molecular Diagnostics
    1
    APR 12, 2018 | 7:30 AM
    Keynote Presentation: Molecular Testing for Hereditary-Familial Prostate Cancer and for Risk Assessment in Localized Disease
    Keynote Presentation: Molecular Testing for Hereditary-Familial...
    Prostate cancer is one of the most common cancers in men and a major health issue in the US and Worldwide.  Until recently, prostate cancer was not felt to be a hereditary disease.  ...
    Speaker: Judd W Moul, MD, FACS
    Presented at: Molecular Diagnostics Virtual Event Series 2018
    1
    MAR 29, 2018 | 1:30 PM
    Cannabidiol Treatment of Epilepsy and Autism Through Restoration of GABAergic Signaling
    Cannabidiol Treatment of Epilepsy and Autism Through Restoration...
    Cannabidiol (CBD) has emerged as a promising anti-epileptic drug in otherwise treatment-resistant genetic epileptic disorders. However, the clinical trials have been limited by their use of C...
    Speaker: Joshua Kaplan, PhD
    Presented at: Cannabis Sciences Virtual Event Series 2018
    3
     
     
  • MAR 15, 2018 | 1:30 PM
    Rare Inherited Mutations in Autism Spectrum Disorder
    Rare Inherited Mutations in Autism Spectrum Disorder
    Autism spectrum disorder (ASD) is a complex group of individually rare neurological conditions with genetic and non-genetic causes. Despite the strong genetic component of ASD, it has been ve...
    Speaker: Maria Chahrour, PhD
    Presented at: Neuroscience Virtual Event Series 2018
    2
    MAR 15, 2018 | 10:30 AM
    Overcoming Hurdles in the Study of Rare Diseases: Innovative Strategies for Novel Therapy Development
    Overcoming Hurdles in the Study of Rare Diseases: Innovative Strategies...
    The study of rare, neurological disorder and the development of effect treatments can pose many unique challenges. A paucity of scientists working on these disorders often limits forward prog...
    Speaker: Jill Weimer, PhD
    Presented at: Neuroscience Virtual Event Series 2018
    1
    MAR 14, 2018 | 10:30 AM
    Studying Sex-Specific Signaling to Understand Male Bias in Neurodevelopmental Disorders
    Studying Sex-Specific Signaling to Understand Male Bias in Neurodevelopmental...
    Since its initial description more than 70 years ago, autism spectrum disorder (ASD) has been diagnosed more frequently in boys. However, we remain unsure of why males are affected in greater...
    Speaker: Chiara Manzini, PhD
    Presented at: Neuroscience Virtual Event Series 2018
    1
    MAR 01, 2018 | 12:00 AM
    Human PSC-based disease modeling to study X-linked Dystonia-Parkinsonism
    Human PSC-based disease modeling to study X-linked Dystonia-Parkinsonism
    The isolation of human embryonic stem cells (hESCs) and the discovery of human induced pluripotent stem cell (hiPSC) reprogramming have sparked a renaissance in stem cell biology, in vitro di...
    Speaker: William Hendriks
    Presented at: 6th annual 24 Hours of Stem Cellsâ„¢ virtual event
    2
    FEB 22, 2018 | 9:00 AM
    Investigating colorectal cancer using epithelial organoid cultures
    Investigating colorectal cancer using epithelial organoid cultures
    DATE: February 22, 2018TIME: 09:00am PST, 12:00pm EST, 06:00pm CEST(Europe)Colorectal cancer (CRC) develops during a multi-step process from small lesions of the intestinal epithelium....
    Speaker: Kai Kretzschmar, PhD
    Sponsored By: Thermo Fisher Scientific/Gibco
    9 3
     
     
  • FEB 22, 2018 | 7:30 AM
    Keynote Presentation: Predictive Biomarkers to Diagnostic Tests - Scientific and Regulatory Consideration in Development of Companion Diagnostic Tests
    Keynote Presentation: Predictive Biomarkers to Diagnostic Tests...
    The path form biomarker discovery to conversion to a clinically useful companion diagnostic test presents many challenges. The talk will outline the regulatory requirements to developing a su...
    Speaker: Janaki Veeraraghavan, PhD
    Presented at: Drug Discovery Virtual Event Series 2018
    1
    FEB 22, 2018 | 6:00 AM
    Developing Personalized Cancer Neoantigen Vaccines
    Developing Personalized Cancer Neoantigen Vaccines
    Vaccibody has developed a unique platform technology able to substantially potentiate vaccines by an inherent mechanism that attract, activate and deliver antigens to antigen presenting cells...
    Speaker: Agnete Fredriksen, MSc, PhD
    Presented at: Drug Discovery Virtual Event Series 2018
    1
    FEB 21, 2018 | 12:00 PM
    Allosteric Modulation of Metabotropic Glutamate Receptors for the Treatment of Neurodevelopmental Disorders
    Allosteric Modulation of Metabotropic Glutamate Receptors for...
    Rett syndrome (RTT) is a neurodevelopmental disorder caused by mutations in the Methyl CpG Binding Protein 2 (MECP2) gene. In mouse models of RTT, deficits in long-term potentiation (LTP) at...
    Speaker: Colleen Niswender, PhD
    Presented at: Drug Discovery Virtual Event Series 2018
    1
    JAN 25, 2018 | 8:00 AM
    WEBINAR:  Understanding Immunosuppressive Myeloid Cells and Immunotherapy using Proteome Profilerâ„¢ Arrays
    WEBINAR: Understanding Immunosuppressive Myeloid Cells and Immunotherapy...
    DATE: January 25, 2018TIME:  8:00AM PST, 10:00AM CSTProstate cancer (PCa) is the most common noncutaneous malignancy in men in the US. A significant fraction of advanced PCa treate...
    Speaker: Xin Lu, PhD
    Sponsored By: ACD - A Bio-Techne Brand
    6
    JAN 18, 2018 | 8:00 AM
    Unravel the exome odyssey: overcome the challenges of exon-level CNV detection
    Unravel the exome odyssey: overcome the challenges of exon-level...
    Current exon-level arrays and NGS techniques for CNV detection are plagued with a high number of false-positive calls and are challenging...
    Speaker: Alka Chaubey, PhD, FACMG , Kristina Cusmano-Ozog, MD
    Sponsored By: Thermo Fisher Scientific - Applied Biosystems
    8
     
     
  • JAN 01, 2018 | 10:00 AM
    Disease modelling with human pluripotent stem cells: general principles and specific applications to obesity
    Disease modelling with human pluripotent stem cells: general principles...
    The capacity to generate disease-relevant cell populations from human pluripotent stem cells has tremendous potential for shedding light on human disease mechanisms. I will discuss basic prin...
    Speaker: Florian Merkle
    Presented at: 6th annual 24 Hours of Stem Cellsâ„¢ virtual event
    2
    DEC 05, 2017 | 6:00 AM
    WEBINAR: Androgen signaling in advanced prostate cancer models using noninvasive hyper polarized MRI and mass spectrometry
    WEBINAR: Androgen signaling in advanced prostate cancer models...
    DATE: December 5th, 2017TIME:  6:00AM PTAndrogen receptor (AR) signaling remains a driver in the lethal phenotype of prostate cancer, castrate resistant prostate cancer (CRPC). Nov...
    Speaker: Mark Titus, PhD
    Sponsored By: Agilent
    4
    DEC 01, 2017 | 12:00 AM
    Beyond Automated iPSC reprogramming: applications for a fully automated cell culture system for pluripotent stem cell research
    Beyond Automated iPSC reprogramming: applications for a fully...
    The use of pluripotent stem cells is dramatically altering the R&D landscape, providing new insights into both the basic biology of disease progression and novel cell types for pharmaceut...
    Speaker: Daniel Paull
    Presented at: 6th annual 24 Hours of Stem Cellsâ„¢ virtual event
    1
    NOV 29, 2017 | 10:00 AM
    WEBINAR: RAS Oncoproteins: Therapeutic Vulnerabilities
    WEBINAR: RAS Oncoproteins: Therapeutic Vulnerabilities
    DATE: November 29, 2017TIME: 10:00 AM PSTThe three human RAS genes (HRAS, KRAS and NRAS) encode four highly related RAS small GTPases (HRAS, KRAS4A, KRAS4B and NRAS). RAS proteins funct...
    Speaker: Adrienne Cox, PhD
    Sponsored By: ACD - A Bio-Techne Brand
    7 2
    NOV 09, 2017 | 4:00 AM
    Human pluripotent stem cells in understanding genetic cardiovascular disease and effects of drugs
    Human pluripotent stem cells in understanding genetic cardiovascular...
    Derivation of many different cell types from human pluripotent stem cells (embryonic stem cells or HESCs and induced pluripotent stem cells or hiPS cells) is an area of growing interest both ...
    Speaker: Christine Mummery
    Presented at: 5th annual 24 Hours of Stem Cellsâ„¢ virtual event
    4 1
     
     
  • NOV 08, 2017 | 1:30 PM
    Rapid Variant Interpretation and Reporting Using the QIAGEN Knowledgebase and QIAGEN Clinical Insight - Interpret (QCI-I)
    Rapid Variant Interpretation and Reporting Using the QIAGEN Knowledgebase...
    The advent of next generation sequencing has transformed the way we identify mutations with clinical implications. As the compendium of variants expands, gathering the most current and accura...
    Speaker: Jennifer Poitras, PhD
    Presented at: Clinical Diagnostics & Research Virtual Event Series 2017
    1
    NOV 08, 2017 | 12:00 PM
    Combined immunohistochemistry and RNA in situ hybridization to elucidate tumor molecular heterogeneity in prostate cancer
    Combined immunohistochemistry and RNA in situ hybridization to...
    Currently, prostate cancer is the second leading cause of death from cancer in North America, the most frequent malignancy in men from all ethnicities, surpassing lung cancer. Prostate tumors...
    Speaker: Nallasivam Palanisamy, PhD
    Presented at: Clinical Diagnostics & Research Virtual Event Series 2017
    Sponsored By: Advanced Cell Diagnostics
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    WEBINAR: A CRISPR Way of Making Mice
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    DATE: November 2, 2017TIME: 10:00am PDT, 1:00pm EDTA CRISPR Way of Making MiceThe bulk of genetic variation associated with human disease exists in the noncoding genome, much of whi...
    Speaker: Joe Miano, PhD
    Sponsored By: Synthego
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    OCT 12, 2017 | 12:00 PM
    Comprehensive genomic and transcriptomic analysis of acral melanoma: A path towards therapeutic development
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    Presented at: Cancer Research & Oncology Week Virtual Event Series 2017
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