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    Human Genetics

    Human Genetics: is the study of inheritance as it exist in human beings. This field encompasses a variety of overlapping grounds including: classical genetics, cytogenetics, molecular genetics, biochemical genetics, genomics, clinical genetics, population genetics, developmental genetics, and genetic counseling.

    Webinars

    • JUN 20, 2019 | 8:00 AM
      Use of Echo Acoustic Liquid Handling in Functional Genomic Screening of Retinal Ganglion Cells
      Use of Echo Acoustic Liquid Handling in Functional Genomic Screening...
      DATE: June 20, 2019TIME: 8:00am PDTRetinal ganglion cells (RGCs) are projection neurons that process and transmit visual information from the retina to the brain. In a group of disea...
      Speaker: Derek Welsbie, M.D., Ph.D. , Iain Russell, PhD
      Sponsored By: Labcyte
      4
      JUN 19, 2019 | 11:00 AM
      Selecting the right tools to build your pluripotent stem cell based disease models
      Selecting the right tools to build your pluripotent stem cell...
      DATE: June 19, 2019TIME: 11:00am PDT, 2:00pm EDT Abstract:...
      Speaker: Erik Willems, PhD
      Sponsored By: Thermo Fisher Scientific/Gibco
      3
      JUN 19, 2019 | 10:00 AM
      Getting started in 3D:  Ask an Expert
      Getting started in 3D: Ask an Expert
      DATE: June 19, 2019TIME: 10:00am PDT, 1:00pm EDT As we develop new methods to create more biologically relevant models for research in understanding disease etiology and in...
      Speaker: Mark Kennedy, Ph.D. , Richard Josephson, PhD
      Sponsored By: Thermo Fisher Scientific
      6
      JUN 18, 2019 | 4:00 PM
      Pluripotent stem cells:  How to raise the quality of your PSC culture
      Pluripotent stem cells: How to raise the quality of your PSC...
      DATE: June 18, 2019TIME: 7:00am PDT, 10:00 EDT, 4:00pm CET PSCs represent an important tool in a wide range of applications, including basic research, disease modeling, drug...
      Speaker: Jessica Wagener, PhD , Nadine Mellies, PhD
      Sponsored By: Eppendorf
      13
      MAY 21, 2019 | 7:00 AM
      Genome-wide CRISPR Screens in Primary Human T Cells Reveal Key Regulators of Immune Function
      Genome-wide CRISPR Screens in Primary Human T Cells Reveal Key...
      DATE: May 21, 2019TIMEL 7:00am PT, 10:00am ET Human T cells are central effectors of immunity and cancer immunotherapy. CRISPR-based functional studies in T cells could prioriti...
      Speaker: Eric Shifrut, PhD
      Sponsored By: Thermo Fisher Scientific
      10 1
      MAY 16, 2019 | 4:00 PM
      Towards Standardized Workflows - A focus on microbiome insights
      Towards Standardized Workflows - A focus on microbiome insights
      DATE: May 16, 2019TIME: 7:00am PDT, 10:00am EDT, 4:00pm CEST The emergence of NGS is revolutionizing the microbiological sciences and transforming medicine. Deep sequencing has...
      Speaker: Rita Colwell, PhD , Christiane Honisch, PhD
      Sponsored By: Eppendorf
      10 2
      MAY 09, 2019 | 1:30 PM
      C.E. CREDITS
      The NIH Rare Disease Undiagnosed Diseases Network; Lessons Learnt and Challenges Faced in the First Four Years
      The NIH Rare Disease Undiagnosed Diseases Network; Lessons Learnt...
      In 2014, the Undiagnosed Diseases Network (UDN), which is funded by the NIH, was established as a network of seven clinical sites, two sequencing cores, and a coordinating center. Later, a ce...
      Speaker: Liz Worthey, PhD
      Presented at: Genetics and Genomics Virtual Event Series 2019
      2
      MAY 09, 2019 | 12:00 PM
      A Metagenomic Assay to Interrogate the Role of Virome and Microbiome in Cancer
      A Metagenomic Assay to Interrogate the Role of Virome and Microbiome...
      Screening to identify all known viruses and other pathogenic microorganisms including bacteria, fungus and parasites in human tumor tissues will provide a more comprehensive understanding of...
      Speaker: Erle Robertson, PhD
      Presented at: Genetics and Genomics Virtual Event Series 2019
      Sponsored By: Agilent
      3
      MAY 09, 2019 | 10:30 AM
      Somatic Gene Recombination in the Brain
      Somatic Gene Recombination in the Brain
      Speculations that some form DNA alteration might be utilized by the brain date to the 1960s [1] wherein hypotheses for genomic alterations of germline DNA were proposed for immunoglobulins an...
      Speaker: Jerold Chun, MD, PhD
      Presented at: Genetics and Genomics Virtual Event Series 2019
      2
      MAY 09, 2019 | 9:00 AM
      Completing the Human Genome: The Progress and Challenge of Satellite DNA Assembly
      Completing the Human Genome: The Progress and Challenge of Satellite...
      Release of the first human genome assembly was a landmark achievement, and after nearly two decades of improvements, the current human reference genome (GRCh38) is the most accurate and compl...
      Speaker: Karen Miga, PhD
      Presented at: Genetics and Genomics Virtual Event Series 2019
      1
      MAY 09, 2019 | 7:30 AM
      C.E. CREDITS
      Keynote Presentation: Big Data and Health
      Keynote Presentation: Big Data and Health
      Recent technological advances as well as longitudinal monitoring not only have the potential to improve the treatment of disease (Precision Medicine) but also empower people to stay healthy (...
      Speaker: Michael Snyder, PhD
      Presented at: Genetics and Genomics Virtual Event Series 2019
      2
      MAY 08, 2019 | 1:30 PM
      Highly Accurate Long Sequence Reads for Comprehensive Genomic Analysis
      Highly Accurate Long Sequence Reads for Comprehensive Genomic...
      Recent improvements in sequencing chemistry and instrument performance combine to create a new PacBio data type of highly accurate (HiFi), long insert reads. Increased read length and improve...
      Speaker: Jonas Korlach, PhD
      Presented at: Genetics and Genomics Virtual Event Series 2019
      Sponsored By: PacBio
      2
      MAY 08, 2019 | 10:30 AM
      C.E. CREDITS
      Using Networks to Understand Cancer Risk
      Using Networks to Understand Cancer Risk
      One of the central tenants of biology is that our genetics—our genotype—influences the physical characteristics we manifest—our phenotype. But with more than 25,000 human ge...
      Speaker: John Quackenbush, PhD
      Presented at: Genetics and Genomics Virtual Event Series 2019
      2
      MAY 08, 2019 | 9:00 AM
      C.E. CREDITS
      Circular Synthesized CRISPR/Cas gRNAs for Functional Interrogations in Single and Multiplex Formats
      Circular Synthesized CRISPR/Cas gRNAs for Functional Interrogations...
      CRISPR/Cas gene editing has become the gold standard for individual gene perturbations as well as high-throughput functional screenings, with a rapidly increasing demand for high-quality CRIS...
      Speaker: Manuel Kaulich, PhD
      Presented at: Genetics and Genomics Virtual Event Series 2019
      1
      MAY 08, 2019 | 9:00 AM
      Development of an Arrayed Whole Human Genome KO Library for Functional Genomics Screening, Using an Optimized Multi-sgRNA Approach
      Development of an Arrayed Whole Human Genome KO Library for Functional...
      Arrayed gene knockout (KO) libraries represent a valuable resource for performing functional genomics screening. Current generation arrayed KO libraries for the whole human genome rely on eit...
      Speaker: Kevin Holden, PhD
      Presented at: Genetics and Genomics Virtual Event Series 2019
      Sponsored By: Synthego
      1
      MAY 08, 2019 | 7:30 AM
      C.E. CREDITS
      Keynote Presentation: Interpreting the Zero $ Genome via Base Editing, Organoids & in Situ Omics
      Keynote Presentation: Interpreting the Zero $ Genome via Base...
      To interpret genome sequence from telomere to telomere, it is helpful end-to-end haplotypes with single-molecule epigenetics overlays, via in situ omics at sub-cellular (20 nm) resolution an...
      Speaker: George Church, PhD
      Presented at: Genetics and Genomics Virtual Event Series 2019
      2
      MAY 08, 2019 | 6:00 AM
      C.E. CREDITS
      Novel DNA Methylation in Mammals
      Novel DNA Methylation in Mammals
      Genetic drivers of cancer can be dysregulated through epigenetic modifications of DNA. Although the critical role of DNA 5-methylcytosine (5mC) in the regulation of transcription is recognize...
      Speaker: Tao Wu, PhD
      Presented at: Genetics and Genomics Virtual Event Series 2019
      2
      APR 25, 2019 | 1:30 PM
      In Vivo Models for Infectious Disease Research Through the Years
      In Vivo Models for Infectious Disease Research Through the Years
      Over the past 25 years many advances in techniques have been incorporated into infectious disease research. From genetically modified animals to advances in basic techniques that improve res...
      Speaker: Matthew Flegal, BS, SRS
      Presented at: Infectious Disease Virtual Event Series 2019
      4 1
      APR 25, 2019 | 12:00 PM
      Diagnosis and Treatment of Tuberculosis, a Case Study in Challenges and Threats Posed by Infectious Diseases
      Diagnosis and Treatment of Tuberculosis, a Case Study in Challenges...
      Tuberculosis has killed more than one billion people in the last 200 years. It is the oldest and the deadliest human pathogen, recently surpassing HIV. Its adaptation to host and drug pressur...
      Speaker: Faramarz Valafar, PhD
      Presented at: Infectious Disease Virtual Event Series 2019
      2
      APR 25, 2019 | 10:30 AM
      Overcoming Complexity to Elucidate the Role of Immunoglobulin Polymorphism in the Functional Antibody Response
      Overcoming Complexity to Elucidate the Role of Immunoglobulin...
      Recent evidence indicates that the immunoglobulin (IG) gene loci reside within the most complex and variable regions of the human genome, characterized by elevated levels of single nucleotide...
      Speaker: Corey Watson, PhD
      Presented at: Infectious Disease Virtual Event Series 2019
      1
      APR 25, 2019 | 6:00 AM
      Long-Read Sequencing and Infectious Disease: New Insights Into Longstanding Challenges
      Long-Read Sequencing and Infectious Disease: New Insights Into...
      To reduce the global burden diseases causes by infectious disease, including parasites and bacteria, scientists need better information about mechanisms of virulence, immune evasion, and drug...
      Speaker: Meredith Ashby, PhD
      Presented at: Infectious Disease Virtual Event Series 2019
      Sponsored By: PacBio
      2
      APR 10, 2019 | 1:30 PM
      Laboratory Medicine Beyond The Box: Value Based Health Care & Diagnostic Evidence
      Laboratory Medicine Beyond The Box: Value Based Health Care &...
      Integration of technology is influencing practice in the clinical laboratory and treatment of patients in the clinical practice arena. As laboratories begin to move from a volume to value mod...
      Speaker: Elizabeth Marlowe, PhD, D(ABMM) , Joanna Sickler, MPH, MBA
      Presented at: Molecular Diagnostics Virtual Event Series 2019
      4
      APR 10, 2019 | 10:30 AM
      A Sample to Insight Solution for Detection and Classification of Challenging Pathogenic BRCA Mutations
      A Sample to Insight Solution for Detection and Classification...
      The BRCA1 and BRCA2 genes represent the best examples of the modern understanding of cancer molecular genetics. Testing for germline and somatic mutations in BRCA 1/2 has gradually become com...
      Speaker: Anika Joecker, PhD , Jennifer Poitras, PhD
      Presented at: Molecular Diagnostics Virtual Event Series 2019
      Sponsored By: QIAGEN
      5
      APR 10, 2019 | 10:30 AM
      Better Knowledge, Better Care: Precision Medicine for Any Cancer, Any Assay, on Your Platform
      Better Knowledge, Better Care: Precision Medicine for Any Cancer,...
      QIAGEN helps your team focus on the opportunities, not the obstacles, with an end-to-end clinical testing solution. During this talk, we will present our clinical decision support solutions,...
      Speaker: Sheryl Elkin, PhD , Dan Richards, PhD
      Presented at: Molecular Diagnostics Virtual Event Series 2019
      Sponsored By: QIAGEN
      2
    JUN 20, 2019 | 8:00 AM
    Use of Echo Acoustic Liquid Handling in Functional Genomic Screening of Retinal Ganglion Cells
    Use of Echo Acoustic Liquid Handling in Functional Genomic Screening...
    DATE: June 20, 2019TIME: 8:00am PDTRetinal ganglion cells (RGCs) are projection neurons that process and transmit visual information from the retina to the brain. In a group of disea...
    Speaker: Derek Welsbie, M.D., Ph.D. , Iain Russell, PhD
    Sponsored By: Labcyte
    4
    JUN 19, 2019 | 11:00 AM
    Selecting the right tools to build your pluripotent stem cell based disease models
    Selecting the right tools to build your pluripotent stem cell...
    DATE: June 19, 2019TIME: 11:00am PDT, 2:00pm EDT Abstract:...
    Speaker: Erik Willems, PhD
    Sponsored By: Thermo Fisher Scientific/Gibco
    3
    JUN 19, 2019 | 10:00 AM
    Getting started in 3D:  Ask an Expert
    Getting started in 3D: Ask an Expert
    DATE: June 19, 2019TIME: 10:00am PDT, 1:00pm EDT As we develop new methods to create more biologically relevant models for research in understanding disease etiology and in...
    Speaker: Mark Kennedy, Ph.D. , Richard Josephson, PhD
    Sponsored By: Thermo Fisher Scientific
    6
    JUN 18, 2019 | 4:00 PM
    Pluripotent stem cells:  How to raise the quality of your PSC culture
    Pluripotent stem cells: How to raise the quality of your PSC...
    DATE: June 18, 2019TIME: 7:00am PDT, 10:00 EDT, 4:00pm CET PSCs represent an important tool in a wide range of applications, including basic research, disease modeling, drug...
    Speaker: Jessica Wagener, PhD , Nadine Mellies, PhD
    Sponsored By: Eppendorf
    13
    MAY 21, 2019 | 7:00 AM
    Genome-wide CRISPR Screens in Primary Human T Cells Reveal Key Regulators of Immune Function
    Genome-wide CRISPR Screens in Primary Human T Cells Reveal Key...
    DATE: May 21, 2019TIMEL 7:00am PT, 10:00am ET Human T cells are central effectors of immunity and cancer immunotherapy. CRISPR-based functional studies in T cells could prioriti...
    Speaker: Eric Shifrut, PhD
    Sponsored By: Thermo Fisher Scientific
    10 1
     
     
  • MAY 16, 2019 | 4:00 PM
    Towards Standardized Workflows - A focus on microbiome insights
    Towards Standardized Workflows - A focus on microbiome insights
    DATE: May 16, 2019TIME: 7:00am PDT, 10:00am EDT, 4:00pm CEST The emergence of NGS is revolutionizing the microbiological sciences and transforming medicine. Deep sequencing has...
    Speaker: Rita Colwell, PhD , Christiane Honisch, PhD
    Sponsored By: Eppendorf
    10 2
    MAY 09, 2019 | 1:30 PM
    C.E. CREDITS
    The NIH Rare Disease Undiagnosed Diseases Network; Lessons Learnt and Challenges Faced in the First Four Years
    The NIH Rare Disease Undiagnosed Diseases Network; Lessons Learnt...
    In 2014, the Undiagnosed Diseases Network (UDN), which is funded by the NIH, was established as a network of seven clinical sites, two sequencing cores, and a coordinating center. Later, a ce...
    Speaker: Liz Worthey, PhD
    Presented at: Genetics and Genomics Virtual Event Series 2019
    2
    MAY 09, 2019 | 12:00 PM
    A Metagenomic Assay to Interrogate the Role of Virome and Microbiome in Cancer
    A Metagenomic Assay to Interrogate the Role of Virome and Microbiome...
    Screening to identify all known viruses and other pathogenic microorganisms including bacteria, fungus and parasites in human tumor tissues will provide a more comprehensive understanding of...
    Speaker: Erle Robertson, PhD
    Presented at: Genetics and Genomics Virtual Event Series 2019
    Sponsored By: Agilent
    3
    MAY 09, 2019 | 10:30 AM
    Somatic Gene Recombination in the Brain
    Somatic Gene Recombination in the Brain
    Speculations that some form DNA alteration might be utilized by the brain date to the 1960s [1] wherein hypotheses for genomic alterations of germline DNA were proposed for immunoglobulins an...
    Speaker: Jerold Chun, MD, PhD
    Presented at: Genetics and Genomics Virtual Event Series 2019
    2
    MAY 09, 2019 | 9:00 AM
    Completing the Human Genome: The Progress and Challenge of Satellite DNA Assembly
    Completing the Human Genome: The Progress and Challenge of Satellite...
    Release of the first human genome assembly was a landmark achievement, and after nearly two decades of improvements, the current human reference genome (GRCh38) is the most accurate and compl...
    Speaker: Karen Miga, PhD
    Presented at: Genetics and Genomics Virtual Event Series 2019
    1
     
     
  • MAY 09, 2019 | 7:30 AM
    C.E. CREDITS
    Keynote Presentation: Big Data and Health
    Keynote Presentation: Big Data and Health
    Recent technological advances as well as longitudinal monitoring not only have the potential to improve the treatment of disease (Precision Medicine) but also empower people to stay healthy (...
    Speaker: Michael Snyder, PhD
    Presented at: Genetics and Genomics Virtual Event Series 2019
    2
    MAY 08, 2019 | 1:30 PM
    Highly Accurate Long Sequence Reads for Comprehensive Genomic Analysis
    Highly Accurate Long Sequence Reads for Comprehensive Genomic...
    Recent improvements in sequencing chemistry and instrument performance combine to create a new PacBio data type of highly accurate (HiFi), long insert reads. Increased read length and improve...
    Speaker: Jonas Korlach, PhD
    Presented at: Genetics and Genomics Virtual Event Series 2019
    Sponsored By: PacBio
    2
    MAY 08, 2019 | 10:30 AM
    C.E. CREDITS
    Using Networks to Understand Cancer Risk
    Using Networks to Understand Cancer Risk
    One of the central tenants of biology is that our genetics—our genotype—influences the physical characteristics we manifest—our phenotype. But with more than 25,000 human ge...
    Speaker: John Quackenbush, PhD
    Presented at: Genetics and Genomics Virtual Event Series 2019
    2
    MAY 08, 2019 | 9:00 AM
    C.E. CREDITS
    Circular Synthesized CRISPR/Cas gRNAs for Functional Interrogations in Single and Multiplex Formats
    Circular Synthesized CRISPR/Cas gRNAs for Functional Interrogations...
    CRISPR/Cas gene editing has become the gold standard for individual gene perturbations as well as high-throughput functional screenings, with a rapidly increasing demand for high-quality CRIS...
    Speaker: Manuel Kaulich, PhD
    Presented at: Genetics and Genomics Virtual Event Series 2019
    1
    MAY 08, 2019 | 9:00 AM
    Development of an Arrayed Whole Human Genome KO Library for Functional Genomics Screening, Using an Optimized Multi-sgRNA Approach
    Development of an Arrayed Whole Human Genome KO Library for Functional...
    Arrayed gene knockout (KO) libraries represent a valuable resource for performing functional genomics screening. Current generation arrayed KO libraries for the whole human genome rely on eit...
    Speaker: Kevin Holden, PhD
    Presented at: Genetics and Genomics Virtual Event Series 2019
    Sponsored By: Synthego
    1
     
     
  • MAY 08, 2019 | 7:30 AM
    C.E. CREDITS
    Keynote Presentation: Interpreting the Zero $ Genome via Base Editing, Organoids & in Situ Omics
    Keynote Presentation: Interpreting the Zero $ Genome via Base...
    To interpret genome sequence from telomere to telomere, it is helpful end-to-end haplotypes with single-molecule epigenetics overlays, via in situ omics at sub-cellular (20 nm) resolution an...
    Speaker: George Church, PhD
    Presented at: Genetics and Genomics Virtual Event Series 2019
    2
    MAY 08, 2019 | 6:00 AM
    C.E. CREDITS
    Novel DNA Methylation in Mammals
    Novel DNA Methylation in Mammals
    Genetic drivers of cancer can be dysregulated through epigenetic modifications of DNA. Although the critical role of DNA 5-methylcytosine (5mC) in the regulation of transcription is recognize...
    Speaker: Tao Wu, PhD
    Presented at: Genetics and Genomics Virtual Event Series 2019
    2
    APR 25, 2019 | 1:30 PM
    In Vivo Models for Infectious Disease Research Through the Years
    In Vivo Models for Infectious Disease Research Through the Years
    Over the past 25 years many advances in techniques have been incorporated into infectious disease research. From genetically modified animals to advances in basic techniques that improve res...
    Speaker: Matthew Flegal, BS, SRS
    Presented at: Infectious Disease Virtual Event Series 2019
    4 1
    APR 25, 2019 | 12:00 PM
    Diagnosis and Treatment of Tuberculosis, a Case Study in Challenges and Threats Posed by Infectious Diseases
    Diagnosis and Treatment of Tuberculosis, a Case Study in Challenges...
    Tuberculosis has killed more than one billion people in the last 200 years. It is the oldest and the deadliest human pathogen, recently surpassing HIV. Its adaptation to host and drug pressur...
    Speaker: Faramarz Valafar, PhD
    Presented at: Infectious Disease Virtual Event Series 2019
    2
    APR 25, 2019 | 10:30 AM
    Overcoming Complexity to Elucidate the Role of Immunoglobulin Polymorphism in the Functional Antibody Response
    Overcoming Complexity to Elucidate the Role of Immunoglobulin...
    Recent evidence indicates that the immunoglobulin (IG) gene loci reside within the most complex and variable regions of the human genome, characterized by elevated levels of single nucleotide...
    Speaker: Corey Watson, PhD
    Presented at: Infectious Disease Virtual Event Series 2019
    1
     
     
  • APR 25, 2019 | 6:00 AM
    Long-Read Sequencing and Infectious Disease: New Insights Into Longstanding Challenges
    Long-Read Sequencing and Infectious Disease: New Insights Into...
    To reduce the global burden diseases causes by infectious disease, including parasites and bacteria, scientists need better information about mechanisms of virulence, immune evasion, and drug...
    Speaker: Meredith Ashby, PhD
    Presented at: Infectious Disease Virtual Event Series 2019
    Sponsored By: PacBio
    2
    APR 10, 2019 | 1:30 PM
    Laboratory Medicine Beyond The Box: Value Based Health Care & Diagnostic Evidence
    Laboratory Medicine Beyond The Box: Value Based Health Care &...
    Integration of technology is influencing practice in the clinical laboratory and treatment of patients in the clinical practice arena. As laboratories begin to move from a volume to value mod...
    Speaker: Elizabeth Marlowe, PhD, D(ABMM) , Joanna Sickler, MPH, MBA
    Presented at: Molecular Diagnostics Virtual Event Series 2019
    4
    APR 10, 2019 | 10:30 AM
    A Sample to Insight Solution for Detection and Classification of Challenging Pathogenic BRCA Mutations
    A Sample to Insight Solution for Detection and Classification...
    The BRCA1 and BRCA2 genes represent the best examples of the modern understanding of cancer molecular genetics. Testing for germline and somatic mutations in BRCA 1/2 has gradually become com...
    Speaker: Anika Joecker, PhD , Jennifer Poitras, PhD
    Presented at: Molecular Diagnostics Virtual Event Series 2019
    Sponsored By: QIAGEN
    5
    APR 10, 2019 | 10:30 AM
    Better Knowledge, Better Care: Precision Medicine for Any Cancer, Any Assay, on Your Platform
    Better Knowledge, Better Care: Precision Medicine for Any Cancer,...
    QIAGEN helps your team focus on the opportunities, not the obstacles, with an end-to-end clinical testing solution. During this talk, we will present our clinical decision support solutions,...
    Speaker: Sheryl Elkin, PhD , Dan Richards, PhD
    Presented at: Molecular Diagnostics Virtual Event Series 2019
    Sponsored By: QIAGEN
    2
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