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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 07, 2020 | 12:00 AM
      Oncogene additivity in the PI3K pathway in cancer
      Oncogene additivity in the PI3K pathway in cancer
      Activating mutations in PIK3CA are frequent in human breast cancer, and phosphoinositide 3-kinase alpha (PI3Kα) inhibitors have been approved for therapy. To characterize determinants...
      Speaker: Neil Vasan, MD, PhD
      Presented at: Cancer Research & Oncology Week Virtual Event Series 2020
      2
      SEP 30, 2020 | 6:00 AM
      Enhancing efficiency and specificity with improved CRISPR components and a new CRISPR analysis pipeline
      Enhancing efficiency and specificity with improved CRISPR components...
      Genome editing with an expanded CRISPR-Cas tool set increases the opportunity to make intentional, targeted changes in the genome. Furthermore, improved specificity of genome editing and abi...
      Speaker: Ashley Jacobi
      Presented at: CRISPR Virtual Event Series 2020
      Sponsored By: Integrated DNA Technologies (IDT)
      2
      SEP 30, 2020 | 12:00 AM
      In vivo delivery of Cas9 ribonucleoprotein and donor DNA with gold nanoparticles
      In vivo delivery of Cas9 ribonucleoprotein and donor DNA with...
      Cas9 based therapeutics have the potential to revolutionize the treatment of genetic diseases. However, safe and effective methods for delivering Cas9 protein, gRNA and donor DNA need to be...
      Speaker: Niren Murthy
      Presented at: CRISPR Virtual Event Series 2020
      4
      SEP 30, 2020 | 12:00 AM
      Long-read sequencing reveals unforeseen CRISPR-Cas9 activity
      Long-read sequencing reveals unforeseen CRISPR-Cas9 activity
      An extensively debated concern about CRISPR-Cas9 genome editing is that unspecific guide RNA (gRNA) binding may induce off-target mutations. However, accurate prediction of CRISPR-Cas9 off-t...
      Speaker: Adam Ameur
      Presented at: CRISPR Virtual Event Series 2020
      1
      SEP 17, 2020 | 1:00 PM
      Keynote Presentation: SARS-CoV-2 Susceptibility, Transmission and Reinfection in Domestic Cats
      Keynote Presentation: SARS-CoV-2 Susceptibility, Transmission...
      Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) is the cause of Coronavirus Disease 2019 (COVID-19) and responsible for the current pandemic. Here, we present an in-depth study...
      Speaker: Jürgen A. Richt, DVM, PhD
      Presented at: Coronavirus Series
      1
      SEP 10, 2020 | 10:00 AM
      Keynote Presentation: Squeezing out understanding from sequences: Genome to Phenome Connections in Viruses of Microbes
      Keynote Presentation: Squeezing out understanding from sequences:...
      Enigmatic and often vilified, viruses are now known to play important and possibly indispensable roles in the biology and ecology of cellular organisms. Evidence of viral impacts are everywh...
      Speaker: K. Eric Wommack
      Presented at: Microbiology Week Virtual Event Series 2020
      1
      SEP 10, 2020 | 7:30 AM
      Keynote Presentation: Discovery of a gene-microbiome interaction in lung cancer: lessons learned and future directions
      Keynote Presentation: Discovery of a gene-microbiome interaction...
      The selective pressure placed on the resident microbiota by local changes in the host environment – DNA damage, chronic inflammation, metabolic shifts, barrier damage, reduced immunosu...
      Speaker: K. Leigh Greathouse, PhD, MPH, MS, RD
      Presented at: Microbiology Week Virtual Event Series 2020
      3
      SEP 08, 2020 | 11:00 PM
      Recombination, lineage-specific mutations and the emergence of SARS-CoV-2
      Recombination, lineage-specific mutations and the emergence of...
      The recent outbreak of SARS-CoV-2 underscores the need for understanding the evolutionary processes that drive the emergence and adaptation of zoonotic viruses in humans. Here, we show that...
      Speaker: Ioan Filip, PhD
      Presented at: Microbiology Week Virtual Event Series 2020
      1
      SEP 08, 2020 | 11:00 PM
      Deep mutational scanning of SARS-CoV-2 receptor binding domain reveals constraints on folding and ACE2 binding
      Deep mutational scanning of SARS-CoV-2 receptor binding domain...
      The receptor binding domain (RBD) of the SARS-CoV-2 spike glycoprotein mediates viral attachment to ACE2 receptor, and is a major determinant of host range and a dominant target of neutraliz...
      Speaker: Tyler Starr, PhD
      Presented at: Microbiology Week Virtual Event Series 2020
      4
      SEP 08, 2020 | 10:00 AM
      Keynote Presentation: Single-cell virus sequencing of influenza infections that trigger innate immunity
      Keynote Presentation: Single-cell virus sequencing of influenza...
      Influenza infections are initiated by just a handful of virions infecting a handful of cells, so it is important to understand what happens in single infected cells. I will describe work tha...
      Speaker: Jesse D. Bloom, PhD
      Presented at: Microbiology Week Virtual Event Series 2020
      4
      SEP 08, 2020 | 9:00 AM
      Keynote Presentation: A Universal Influenza Virus Vaccine
      Keynote Presentation: A Universal Influenza Virus Vaccine
      Seasonal and pandemic influenza virus infections can cause significant disease worldwide. Current vaccines only provide limited, short-lived protection, and antigenic drift/shift in the hema...
      Speaker: Peter Palese, PhD
      Presented at: Microbiology Week Virtual Event Series 2020
      3
      AUG 27, 2020 | 7:00 AM
      Atlas of the SARS-CoV-2 Proteome
      Atlas of the SARS-CoV-2 Proteome
      DATE: August 27, 2020 TIME: 7:00am PT Novel anti-viral medications, including biologics and small molecule inhibitors, as well as serologic diagnostic tool sets are in urgent demand to fight...
      Speaker: Yuning Chen, Ph.D.
      Sponsored By: Sino Biological
      32 3
      AUG 20, 2020 | 10:00 AM
      A Novel Method for the Isolation of Highly Pure Carcinoma Cell Populations from FFPE Tissue Improves Sensitivity for Detecting Somatic Mutations
      A Novel Method for the Isolation of Highly Pure Carcinoma Cell...
      DATE: August 20, 2020 TIME: 10:00am PT, 1:00pm ET Millions of formalin-fixed paraffin-embedded (FFPE) tissue specimens are archived annually. The enormous number of FFPE specimens available...
      Speaker: Carina Emery
      Sponsored By: Miltenyi Biotec
      21 1
      AUG 06, 2020 | 10:00 AM
      Part III: Exploring the inhibition of Alk2 kinase and dimerization of EGFR kinase
      Part III: Exploring the inhibition of Alk2 kinase and dimerization...
      One of the most common pathologically relevant mutated variants of ALK-2 (activin receptor-like kinase-2) has a point mutation (R206H) in its Ser/Thr kinase domain that promotes uncontrolled...
      Speaker: Kumar Ashtekar, PhD
      Presented at: 2020 Beckman Symposium
      1
      JUL 28, 2020 | 10:00 AM
      Rebuilding evolutionary success: Using Inscripta's Onyx Digital Genome Engineering Platform to ease and enhance Adaptive Laboratory Evolution experiments
      Rebuilding evolutionary success: Using Inscripta's Onyx Digital...
      ABSTRACT DATE: July 28, 2020 TIME: 10:00am PDT, 1:00pm EDT Adaptive laboratory evolution (ALE) of microbial strains is a powerful approach in biotechnology to generate chemical tolerance and...
      Speaker: Tyson Shepherd, PhD
      Sponsored By: Inscripta
      12
      JUL 16, 2020 | 10:00 AM
      Implications of Rapid IDH1/IDH2 Testing for Liquid and Solid Tumors
      Implications of Rapid IDH1/IDH2 Testing for Liquid and Solid Tumors
      DATE: July 16, 2020 TIME: 10:00 am PDT This seminar reviews clinical utility of adopting rapid IDH1/2 testing in both hematological and solid tumors and describes the adjusted workflow devel...
      Speaker: Sarah Herlihy
      Sponsored By: Abbott Molecular Diagnostic
      15
      JUL 14, 2020 | 7:00 AM
      Cancer Genomics: What We Can Learn from Africa
      Cancer Genomics: What We Can Learn from Africa
      ABSTRACT DATE: July 14, 2020 TIME: 7:00 am PDT, 10:00 am EDT This is the second topic in the webinar series on ‘ Predictive Genomics for Population & Personalized Health ’. C...
      Speaker: Timothy Rebbeck, PhD
      Sponsored By: Thermo Fisher Scientific - Applied Biosystems
      27 1
      JUL 07, 2020 | 6:30 AM
      Deep immunophenotyping of cancer microenvironments by Imaging Mass Cytometryâ„¢
      Deep immunophenotyping of cancer microenvironments by Imaging...
      Multiplex immunophenotyping technologies are indispensable for a deeper understanding of biological systems. Until recently, high-dimensional cellular analyses implied the loss of tissue con...
      Speaker: Noel de Miranda, PhD
      Presented at: Fluidigm Infectious Disease and Oncology Virtual Summit
      1
      JUL 02, 2020 | 2:00 PM
      Customized Theragen PMRA chip : design history and application examples
      Customized Theragen PMRA chip : design history and application...
      Theragen Bio. (TheragenEtex Subsidiary company) has been conducted the genome-wide research and the genome-based genetic testing services. From 2007, researchers of Theragen Bio. are collabo...
      Speaker: Kyung-Won Hong, PhD
      Presented at: APJ Virtual Genetic Solutions Tour 2020
      1
      JUL 02, 2020 | 1:30 PM
      Molecular Diagnosis of Genetic Diseases using CE in an era of different technologies
      Molecular Diagnosis of Genetic Diseases using CE in an era of...
      Genetic diseases are known occur due to various types of mutations in the human genome. The molecular assays to diagnose these diseases have been developed based on the type of mutation comm...
      Speaker: Ashwin Dalal, MD
      Presented at: APJ Virtual Genetic Solutions Tour 2020
      3
      JUL 02, 2020 | 12:45 PM
      Cancer genomics research on tumor clonality and liquid biopsy
      Cancer genomics research on tumor clonality and liquid biopsy
      Most bladder cancer (BC) cases are non-muscle-invasive BC (NIBMC), which is rarely lethal. However, nearly one-fifth of NMIBC cases progress to muscle-invasive BC (MIBC), which shows a 5-yea...
      Speaker: Yosuke Hirotsu, PhD
      Presented at: APJ Virtual Genetic Solutions Tour 2020
      1
      JUL 01, 2020 | 2:30 PM
      Reproductive genetic solution on ion torrent NGS
      Reproductive genetic solution on ion torrent NGS
      NGS technology has grown leaps and bounds in reproductive genetics field. Infertility is on the rise and with the mushrooming of so many IVF clinics in our country and increasing number of I...
      Speaker: Ritu Hari, PhD
      Presented at: APJ Virtual Genetic Solutions Tour 2020
      2
      JUL 01, 2020 | 2:00 PM
      Operational strategies in molecular profiling of lung cancers
      Operational strategies in molecular profiling of lung cancers
      Lung cancer management has changed over the last few years with several actionable targets being recognised and mandated in the optimal management of these patients. The biomarker ordering p...
      Speaker: Sudha Murthy, MD
      Presented at: APJ Virtual Genetic Solutions Tour 2020
      1
      JUL 01, 2020 | 12:45 PM
      Multicentric Evaluation of Oncomine Precision Assay on Ion Torrent Genexus System
      Multicentric Evaluation of Oncomine Precision Assay on Ion Torrent...
      NGS is still perceived as a complex, hard to implement and validate method that requires highly experienced people. Outsourcing next-generation sequencing (NGS) testing could be an option to...
      Speaker: Prof. Dr. Michael Hummel
      Presented at: APJ Virtual Genetic Solutions Tour 2020
      1
    OCT 07, 2020 | 12:00 AM
    Oncogene additivity in the PI3K pathway in cancer
    Oncogene additivity in the PI3K pathway in cancer
    Activating mutations in PIK3CA are frequent in human breast cancer, and phosphoinositide 3-kinase alpha (PI3Kα) inhibitors have been approved for therapy. To characterize determinants...
    Speaker: Neil Vasan, MD, PhD
    Presented at: Cancer Research & Oncology Week Virtual Event Series 2020
    2
    SEP 30, 2020 | 6:00 AM
    Enhancing efficiency and specificity with improved CRISPR components and a new CRISPR analysis pipeline
    Enhancing efficiency and specificity with improved CRISPR components...
    Genome editing with an expanded CRISPR-Cas tool set increases the opportunity to make intentional, targeted changes in the genome. Furthermore, improved specificity of genome editing and abi...
    Speaker: Ashley Jacobi
    Presented at: CRISPR Virtual Event Series 2020
    Sponsored By: Integrated DNA Technologies (IDT)
    2
    SEP 30, 2020 | 12:00 AM
    In vivo delivery of Cas9 ribonucleoprotein and donor DNA with gold nanoparticles
    In vivo delivery of Cas9 ribonucleoprotein and donor DNA with...
    Cas9 based therapeutics have the potential to revolutionize the treatment of genetic diseases. However, safe and effective methods for delivering Cas9 protein, gRNA and donor DNA need to be...
    Speaker: Niren Murthy
    Presented at: CRISPR Virtual Event Series 2020
    4
    SEP 30, 2020 | 12:00 AM
    Long-read sequencing reveals unforeseen CRISPR-Cas9 activity
    Long-read sequencing reveals unforeseen CRISPR-Cas9 activity
    An extensively debated concern about CRISPR-Cas9 genome editing is that unspecific guide RNA (gRNA) binding may induce off-target mutations. However, accurate prediction of CRISPR-Cas9 off-t...
    Speaker: Adam Ameur
    Presented at: CRISPR Virtual Event Series 2020
    1
    SEP 17, 2020 | 1:00 PM
    Keynote Presentation: SARS-CoV-2 Susceptibility, Transmission and Reinfection in Domestic Cats
    Keynote Presentation: SARS-CoV-2 Susceptibility, Transmission...
    Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) is the cause of Coronavirus Disease 2019 (COVID-19) and responsible for the current pandemic. Here, we present an in-depth study...
    Speaker: Jürgen A. Richt, DVM, PhD
    Presented at: Coronavirus Series
    1
     
     
  • SEP 10, 2020 | 10:00 AM
    Keynote Presentation: Squeezing out understanding from sequences: Genome to Phenome Connections in Viruses of Microbes
    Keynote Presentation: Squeezing out understanding from sequences:...
    Enigmatic and often vilified, viruses are now known to play important and possibly indispensable roles in the biology and ecology of cellular organisms. Evidence of viral impacts are everywh...
    Speaker: K. Eric Wommack
    Presented at: Microbiology Week Virtual Event Series 2020
    1
    SEP 10, 2020 | 7:30 AM
    Keynote Presentation: Discovery of a gene-microbiome interaction in lung cancer: lessons learned and future directions
    Keynote Presentation: Discovery of a gene-microbiome interaction...
    The selective pressure placed on the resident microbiota by local changes in the host environment – DNA damage, chronic inflammation, metabolic shifts, barrier damage, reduced immunosu...
    Speaker: K. Leigh Greathouse, PhD, MPH, MS, RD
    Presented at: Microbiology Week Virtual Event Series 2020
    3
    SEP 08, 2020 | 11:00 PM
    Recombination, lineage-specific mutations and the emergence of SARS-CoV-2
    Recombination, lineage-specific mutations and the emergence of...
    The recent outbreak of SARS-CoV-2 underscores the need for understanding the evolutionary processes that drive the emergence and adaptation of zoonotic viruses in humans. Here, we show that...
    Speaker: Ioan Filip, PhD
    Presented at: Microbiology Week Virtual Event Series 2020
    1
    SEP 08, 2020 | 11:00 PM
    Deep mutational scanning of SARS-CoV-2 receptor binding domain reveals constraints on folding and ACE2 binding
    Deep mutational scanning of SARS-CoV-2 receptor binding domain...
    The receptor binding domain (RBD) of the SARS-CoV-2 spike glycoprotein mediates viral attachment to ACE2 receptor, and is a major determinant of host range and a dominant target of neutraliz...
    Speaker: Tyler Starr, PhD
    Presented at: Microbiology Week Virtual Event Series 2020
    4
    SEP 08, 2020 | 10:00 AM
    Keynote Presentation: Single-cell virus sequencing of influenza infections that trigger innate immunity
    Keynote Presentation: Single-cell virus sequencing of influenza...
    Influenza infections are initiated by just a handful of virions infecting a handful of cells, so it is important to understand what happens in single infected cells. I will describe work tha...
    Speaker: Jesse D. Bloom, PhD
    Presented at: Microbiology Week Virtual Event Series 2020
    4
     
     
  • SEP 08, 2020 | 9:00 AM
    Keynote Presentation: A Universal Influenza Virus Vaccine
    Keynote Presentation: A Universal Influenza Virus Vaccine
    Seasonal and pandemic influenza virus infections can cause significant disease worldwide. Current vaccines only provide limited, short-lived protection, and antigenic drift/shift in the hema...
    Speaker: Peter Palese, PhD
    Presented at: Microbiology Week Virtual Event Series 2020
    3
    AUG 27, 2020 | 7:00 AM
    Atlas of the SARS-CoV-2 Proteome
    Atlas of the SARS-CoV-2 Proteome
    DATE: August 27, 2020 TIME: 7:00am PT Novel anti-viral medications, including biologics and small molecule inhibitors, as well as serologic diagnostic tool sets are in urgent demand to fight...
    Speaker: Yuning Chen, Ph.D.
    Sponsored By: Sino Biological
    32 3
    AUG 20, 2020 | 10:00 AM
    A Novel Method for the Isolation of Highly Pure Carcinoma Cell Populations from FFPE Tissue Improves Sensitivity for Detecting Somatic Mutations
    A Novel Method for the Isolation of Highly Pure Carcinoma Cell...
    DATE: August 20, 2020 TIME: 10:00am PT, 1:00pm ET Millions of formalin-fixed paraffin-embedded (FFPE) tissue specimens are archived annually. The enormous number of FFPE specimens available...
    Speaker: Carina Emery
    Sponsored By: Miltenyi Biotec
    21 1
    AUG 06, 2020 | 10:00 AM
    Part III: Exploring the inhibition of Alk2 kinase and dimerization of EGFR kinase
    Part III: Exploring the inhibition of Alk2 kinase and dimerization...
    One of the most common pathologically relevant mutated variants of ALK-2 (activin receptor-like kinase-2) has a point mutation (R206H) in its Ser/Thr kinase domain that promotes uncontrolled...
    Speaker: Kumar Ashtekar, PhD
    Presented at: 2020 Beckman Symposium
    1
    JUL 28, 2020 | 10:00 AM
    Rebuilding evolutionary success: Using Inscripta's Onyx Digital Genome Engineering Platform to ease and enhance Adaptive Laboratory Evolution experiments
    Rebuilding evolutionary success: Using Inscripta's Onyx Digital...
    ABSTRACT DATE: July 28, 2020 TIME: 10:00am PDT, 1:00pm EDT Adaptive laboratory evolution (ALE) of microbial strains is a powerful approach in biotechnology to generate chemical tolerance and...
    Speaker: Tyson Shepherd, PhD
    Sponsored By: Inscripta
    12
     
     
  • JUL 16, 2020 | 10:00 AM
    Implications of Rapid IDH1/IDH2 Testing for Liquid and Solid Tumors
    Implications of Rapid IDH1/IDH2 Testing for Liquid and Solid Tumors
    DATE: July 16, 2020 TIME: 10:00 am PDT This seminar reviews clinical utility of adopting rapid IDH1/2 testing in both hematological and solid tumors and describes the adjusted workflow devel...
    Speaker: Sarah Herlihy
    Sponsored By: Abbott Molecular Diagnostic
    15
    JUL 14, 2020 | 7:00 AM
    Cancer Genomics: What We Can Learn from Africa
    Cancer Genomics: What We Can Learn from Africa
    ABSTRACT DATE: July 14, 2020 TIME: 7:00 am PDT, 10:00 am EDT This is the second topic in the webinar series on ‘ Predictive Genomics for Population & Personalized Health ’. C...
    Speaker: Timothy Rebbeck, PhD
    Sponsored By: Thermo Fisher Scientific - Applied Biosystems
    27 1
    JUL 07, 2020 | 6:30 AM
    Deep immunophenotyping of cancer microenvironments by Imaging Mass Cytometryâ„¢
    Deep immunophenotyping of cancer microenvironments by Imaging...
    Multiplex immunophenotyping technologies are indispensable for a deeper understanding of biological systems. Until recently, high-dimensional cellular analyses implied the loss of tissue con...
    Speaker: Noel de Miranda, PhD
    Presented at: Fluidigm Infectious Disease and Oncology Virtual Summit
    1
    JUL 02, 2020 | 2:00 PM
    Customized Theragen PMRA chip : design history and application examples
    Customized Theragen PMRA chip : design history and application...
    Theragen Bio. (TheragenEtex Subsidiary company) has been conducted the genome-wide research and the genome-based genetic testing services. From 2007, researchers of Theragen Bio. are collabo...
    Speaker: Kyung-Won Hong, PhD
    Presented at: APJ Virtual Genetic Solutions Tour 2020
    1
    JUL 02, 2020 | 1:30 PM
    Molecular Diagnosis of Genetic Diseases using CE in an era of different technologies
    Molecular Diagnosis of Genetic Diseases using CE in an era of...
    Genetic diseases are known occur due to various types of mutations in the human genome. The molecular assays to diagnose these diseases have been developed based on the type of mutation comm...
    Speaker: Ashwin Dalal, MD
    Presented at: APJ Virtual Genetic Solutions Tour 2020
    3
     
     
  • JUL 02, 2020 | 12:45 PM
    Cancer genomics research on tumor clonality and liquid biopsy
    Cancer genomics research on tumor clonality and liquid biopsy
    Most bladder cancer (BC) cases are non-muscle-invasive BC (NIBMC), which is rarely lethal. However, nearly one-fifth of NMIBC cases progress to muscle-invasive BC (MIBC), which shows a 5-yea...
    Speaker: Yosuke Hirotsu, PhD
    Presented at: APJ Virtual Genetic Solutions Tour 2020
    1
    JUL 01, 2020 | 2:30 PM
    Reproductive genetic solution on ion torrent NGS
    Reproductive genetic solution on ion torrent NGS
    NGS technology has grown leaps and bounds in reproductive genetics field. Infertility is on the rise and with the mushrooming of so many IVF clinics in our country and increasing number of I...
    Speaker: Ritu Hari, PhD
    Presented at: APJ Virtual Genetic Solutions Tour 2020
    2
    JUL 01, 2020 | 2:00 PM
    Operational strategies in molecular profiling of lung cancers
    Operational strategies in molecular profiling of lung cancers
    Lung cancer management has changed over the last few years with several actionable targets being recognised and mandated in the optimal management of these patients. The biomarker ordering p...
    Speaker: Sudha Murthy, MD
    Presented at: APJ Virtual Genetic Solutions Tour 2020
    1
    JUL 01, 2020 | 12:45 PM
    Multicentric Evaluation of Oncomine Precision Assay on Ion Torrent Genexus System
    Multicentric Evaluation of Oncomine Precision Assay on Ion Torrent...
    NGS is still perceived as a complex, hard to implement and validate method that requires highly experienced people. Outsourcing next-generation sequencing (NGS) testing could be an option to...
    Speaker: Prof. Dr. Michael Hummel
    Presented at: APJ Virtual Genetic Solutions Tour 2020
    1
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