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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

    • MAY 06, 2020 | 12:00 AM
      Microhaplotypes: the next generation DNA marker
      Microhaplotypes: the next generation DNA marker
      Learning Objectives: 1. Molecular basis of microhaplotypes 2. Informativeness and power of discrimination of microhaplotypes 3. Mixture deconvolution via microhaplotypes...
      Speaker: Daniele Podini
      Presented at: Forensic Sciences Virtual Event Series 2020
      1
      MAY 06, 2020 | 12:00 AM
      Deciphering the Necrobiome and Postmortem Microbiomes for Use in Forensics
      Deciphering the Necrobiome and Postmortem Microbiomes for Use...
      The necrobiome is the community of organisms that use or are affected by decomposing organic matter. Decomposing organic matter comes in the form of dead plant matter (biomass) or that of de...
      Speaker: M. Eric Benbow, PhD, AAFS-F
      Presented at: Forensic Sciences Virtual Event Series 2020
      1
      MAY 06, 2020 | 12:00 AM
      Forensic Anthropology At La Línea: Advances In Computational Methods For The Identification Of The U.S.-México Border Dead.
      Forensic Anthropology At La Línea: Advances In Computational Methods...
      The ever-increasing number of deaths along the U.S.-México border and the diversification in the demographic characteristics of the Latin American migrants, who perish in this region,...
      Speaker: Bridget Algee-Hewitt, PhD
      Presented at: Forensic Sciences Virtual Event Series 2020
      2
      MAY 06, 2020 | 12:00 AM
      I'm biased, and I know it! What can we learn from cognitive bias research in forensic science?
      I'm biased, and I know it! What can we learn from cognitive bias...
      The potential for cognitive bias in forensic evidence interpretation and crime scene investigation continues to receive attention and debate within forensic and academic communities. Startin...
      Speaker: Niki Osborne, PhD
      Presented at: Forensic Sciences Virtual Event Series 2020
      3
      MAY 06, 2020 | 12:00 AM
      Probabilistic genotyping and the power of modern DNA technology: A case study in overturning a wrongful conviction for murder in Texas
      Probabilistic genotyping and the power of modern DNA technology:...
      In late 2019, nearly a decade into a life sentence, Lydell Grant was released from a Texas prison after being convicted of a murder that he did not commit. The victim, Aaron Scheerhorn, was...
      Speaker: Angie Ambers, PhD
      Presented at: Forensic Sciences Virtual Event Series 2020
      3
      APR 30, 2020 | 9:00 AM
      Tools and methods for CRISPR-Cas9 screening for functional genomics and drug discovery
      Tools and methods for CRISPR-Cas9 screening for functional genomics...
      DATE: April 30, 2020 TIME: 9:00am PT, 12:00pm ET Loss-of-function studies are an established method for uncovering a gene’s role in a biological pathway or disease state. The advent of...
      Speaker: Louise Baskin, M.S. Molecular Biology and Genetics
      Sponsored By: Thermo Fisher Scientific
      23 1
      APR 30, 2020 | 8:00 AM
      Uncovering the membrane mechanism of cytokinesis using live cell imaging and subcellular optogenetic tools.
      Uncovering the membrane mechanism of cytokinesis using live cell...
      DATE:April 30, 2020 TIME: 8AM PT, 11AM ET, 4PM BST, 5PM CEST Cytokinesis is the physical separation of two cells that occurs after the completion of mitosis. The mechanism underlying it is v...
      Speaker: Alan Mullan, PhD , Jean Castillo-Badillo, PhD , Claudia Florindo, PhD
      Sponsored By: Andor
      7 2
      APR 30, 2020 | 7:00 AM
      Nucleic Acid Purification - Understand the details, tackle the routines!
      Nucleic Acid Purification - Understand the details, tackle the...
      DATE: April 30, 2020 TIME: 7am PT, 10am ET, 4pm CEST Aged more than one century, nucleic acid purification is anything but ordinary. Nucleic Acid Purification, also termed Nucleic Acid Extra...
      Speaker: Andreas von Bohl, PhD , Milan Dieris, PhD , Tim Schommartz, PhD
      Sponsored By: Eppendorf, Macherey-Nagel
      45 13
      APR 29, 2020 | 6:00 AM
      High-Throughput assessment of ChIP-grade capability with Luminex xMAP technology
      High-Throughput assessment of ChIP-grade capability with Luminex...
      Histone post-translational modifications (PTMs) play pivotal roles in chromatin dynamics and function, with alterations in the healthy profile associated with diverse human pathologies. The...
      Speaker: Michael-Christopher Keogh, PhD
      Presented at: xMAP® Connect Virtual Conference (On-Demand)
      1
      APR 23, 2020 | 10:30 AM
      Keynote Presentation: Systematic identification of therapeutic strategies that leverage tumor evolution
      Keynote Presentation: Systematic identification of therapeutic...
      Our laboratory uses tools from pharmacology, genomics, and cell signaling to identify new precision anticancer therapeutic strategies. Under this broad heading, our work involves three key a...
      Speaker: Kris C. Wood, PhD
      Presented at: Genetics Week Virtual Event Series 2020
      1
      APR 23, 2020 | 9:00 AM
      Keynote Presentation: Individualized Health
      Keynote Presentation: Individualized Health
      Learning Objectives: 1. What is wrong with healthcare today 2. What kinds of omics and wearables data can be used to best predict disease risk and manage health...
      Speaker: Michael Snyder, PhD
      Presented at: Genetics Week Virtual Event Series 2020
      1
      APR 23, 2020 | 7:30 AM
      Keynote Presentation: The Massively Parallel Sequencing (MPS) Revolution
      Keynote Presentation: The Massively Parallel Sequencing (MPS)...
      The development of automated DNA sequencers using fluorescent di-deoxy nucleotide sequencing and capillary electrophoresis made it possible to generate the first draft sequences of the human...
      Speaker: David Smith, PhD
      Presented at: Genetics Week Virtual Event Series 2020
      1
      APR 22, 2020 | 12:00 AM
      Population Health and Genetic Testing
      Population Health and Genetic Testing
      With the completion of the human genome nearly two decades ago, consumers, patients, and physicians are wondering when genetic testing will go PRIME TIME. While the diagnostic utility of gen...
      Speaker: Matthew Ferber, PhD, FACMG
      Presented at: Genetics Week Virtual Event Series 2020
      1
      APR 22, 2020 | 12:00 AM
      Long-range technologies resolve complex genomic regions overlooked by short-read sequencing
      Long-range technologies resolve complex genomic regions overlooked...
      Complex genomes, including the human genome, contain ‘dark’ regions that standard short-read sequencing technologies do not adequately resolve—overlooking many variants tha...
      Speaker: Mark Ebbert, PhD
      Presented at: Genetics Week Virtual Event Series 2020
      1
      APR 22, 2020 | 12:00 AM
      Genomic Landscapes: Leveraging Genetic Evidence throughout the Pharma Pipeline
      Genomic Landscapes: Leveraging Genetic Evidence throughout the...
      Realizing the promise of Precision Medicine requires both a deep understanding of the landscape of genomic evidence and an understanding of the molecular drivers that influence all aspects o...
      Speaker: Mark Kiel, MD, PhD
      Presented at: Genetics Week Virtual Event Series 2020
      1
      APR 21, 2020 | 1:30 PM
      Spatially Resolved Molecular Investigation of Triple Negative Breast Cancer
      Spatially Resolved Molecular Investigation of Triple Negative...
      Triple-negative breast cancer (TNBC) is an aggressive disease that accounts for 10-20% of all breast cancer cases diagnosed annually in the U.S.1. Despite its prevalence, TNBC remains resist...
      Speaker: Dina Finan, PhD , Stephen Williams, PhD
      Presented at: Genetics Week Virtual Event Series 2020
      1
      APR 21, 2020 | 12:00 PM
      SNVs to Large Structural Variation: Capturing nucleotide through inter-chromosomal variants through a powerful three-dimensional data type
      SNVs to Large Structural Variation: Capturing nucleotide through...
      Within the clinical arena, the oncology community has led the way in the early adoption of next generation sequencing. NGS is in widespread use in clinical cancer research and is now beginni...
      Speaker: Cory Padilla, PhD
      Presented at: Genetics Week Virtual Event Series 2020
      1
      APR 21, 2020 | 10:30 AM
      Long HiFi Reads for High-Quality Genome Assemblies
      Long HiFi Reads for High-Quality Genome Assemblies
      The introduction of PacBio HiFi sequence reads, which are both long (up to 25 kb currently) and accurate (>99%) at the individual single-molecule sequence read level, has allowed for adva...
      Speaker: Jonas Korlach, PhD
      Presented at: Genetics Week Virtual Event Series 2020
      Sponsored By: PacBio
      1
      APR 21, 2020 | 10:30 AM
      Optimizing human karyomapping to phase single lgene defects with improved DNA amplification
      Optimizing human karyomapping to phase single lgene defects with...
      Karyomapping, a technique for preimplantation genetic diagnosis (PGD) of single gene disorders, involves using very few or single cells, and comes with challenges due to limited amounts of s...
      Speaker: Samuel Rulli, PhD
      Presented at: Genetics Week Virtual Event Series 2020
      Sponsored By: QIAGEN
      1
      APR 21, 2020 | 5:30 AM
      PRINCESS: A Framework for Comprehensive Detection and Haplotype Phasing of SNPs and Structural Variants
      PRINCESS: A Framework for Comprehensive Detection and Haplotype...
      Long-read DNA sequencing technologies such as the Pacific Biosciences (PacBio) and Oxford Nanopore (ONT) platforms, have demonstrated enhanced detection of genomic variation, including Singl...
      Speaker: Medhat Mahmoud, PhD
      Presented at: Genetics Week Virtual Event Series 2020
      1
      APR 21, 2020 | 12:00 AM
      Bionano Genome Imaging: unbiased, genome-wide structural variation detection in genetic disease and cancer, down to 1% allele fraction
      Bionano Genome Imaging: unbiased, genome-wide structural variation...
      Learning Objectives: 1. Learn why the complexity and repetitive structure of the human genome makes it impossible to detect all structural variants using short-read sequencing 2. Learn how h...
      Speaker: Sven Bocklandt, PhD
      Presented at: Genetics Week Virtual Event Series 2020
      1
      APR 15, 2020 | 9:00 AM
      Single-cell multi-omics: DNA methylation and 3D genome
      Single-cell multi-omics: DNA methylation and 3D genome
      DATE: April 15, 2020 TIME: 9:00am PT, 12:00pm ET We report a molecular assay, Methyl-HiC, that can simultaneously capture the chromosome conformation and DNA methylome in a cell. Methyl-HiC...
      Speaker: Yaping Liu, Ph.D.
      Sponsored By: Zymo Research
      9 3
      APR 08, 2020 | 12:00 AM
      Directed Evolution of Next-Generation AAV Vector Systems for Clinical Gene Therapy
      Directed Evolution of Next-Generation AAV Vector Systems for Clinical...
      There has been an increasing number of successful gene therapy clinical trials, leading to regulatory approvals of numerous gene therapy products, in particular ones based on the adeno-assoc...
      Speaker: David Schaffer, PhD
      Presented at: BioProcessing Virtual Event Series 2020
      2
      APR 07, 2020 | 8:00 AM
      Best Practice Criteria for Pluripotent Stem Cell Lines
      Best Practice Criteria for Pluripotent Stem Cell Lines
      DATE: April 7, 2020 TIME: 8:00am PT, 11:00am ET This webinar sets out to establish why quality control is key to robust, reliable, reproducible science. We will look at best practice criteri...
      Speaker: Lyn Healy
      Sponsored By: STEMCELL Technologies
      22
    MAY 06, 2020 | 12:00 AM
    Microhaplotypes: the next generation DNA marker
    Microhaplotypes: the next generation DNA marker
    Learning Objectives: 1. Molecular basis of microhaplotypes 2. Informativeness and power of discrimination of microhaplotypes 3. Mixture deconvolution via microhaplotypes...
    Speaker: Daniele Podini
    Presented at: Forensic Sciences Virtual Event Series 2020
    1
    MAY 06, 2020 | 12:00 AM
    Deciphering the Necrobiome and Postmortem Microbiomes for Use in Forensics
    Deciphering the Necrobiome and Postmortem Microbiomes for Use...
    The necrobiome is the community of organisms that use or are affected by decomposing organic matter. Decomposing organic matter comes in the form of dead plant matter (biomass) or that of de...
    Speaker: M. Eric Benbow, PhD, AAFS-F
    Presented at: Forensic Sciences Virtual Event Series 2020
    1
    MAY 06, 2020 | 12:00 AM
    Forensic Anthropology At La Línea: Advances In Computational Methods For The Identification Of The U.S.-México Border Dead.
    Forensic Anthropology At La Línea: Advances In Computational Methods...
    The ever-increasing number of deaths along the U.S.-México border and the diversification in the demographic characteristics of the Latin American migrants, who perish in this region,...
    Speaker: Bridget Algee-Hewitt, PhD
    Presented at: Forensic Sciences Virtual Event Series 2020
    2
    MAY 06, 2020 | 12:00 AM
    I'm biased, and I know it! What can we learn from cognitive bias research in forensic science?
    I'm biased, and I know it! What can we learn from cognitive bias...
    The potential for cognitive bias in forensic evidence interpretation and crime scene investigation continues to receive attention and debate within forensic and academic communities. Startin...
    Speaker: Niki Osborne, PhD
    Presented at: Forensic Sciences Virtual Event Series 2020
    3
    MAY 06, 2020 | 12:00 AM
    Probabilistic genotyping and the power of modern DNA technology: A case study in overturning a wrongful conviction for murder in Texas
    Probabilistic genotyping and the power of modern DNA technology:...
    In late 2019, nearly a decade into a life sentence, Lydell Grant was released from a Texas prison after being convicted of a murder that he did not commit. The victim, Aaron Scheerhorn, was...
    Speaker: Angie Ambers, PhD
    Presented at: Forensic Sciences Virtual Event Series 2020
    3
     
     
  • APR 30, 2020 | 9:00 AM
    Tools and methods for CRISPR-Cas9 screening for functional genomics and drug discovery
    Tools and methods for CRISPR-Cas9 screening for functional genomics...
    DATE: April 30, 2020 TIME: 9:00am PT, 12:00pm ET Loss-of-function studies are an established method for uncovering a gene’s role in a biological pathway or disease state. The advent of...
    Speaker: Louise Baskin, M.S. Molecular Biology and Genetics
    Sponsored By: Thermo Fisher Scientific
    23 1
    APR 30, 2020 | 8:00 AM
    Uncovering the membrane mechanism of cytokinesis using live cell imaging and subcellular optogenetic tools.
    Uncovering the membrane mechanism of cytokinesis using live cell...
    DATE:April 30, 2020 TIME: 8AM PT, 11AM ET, 4PM BST, 5PM CEST Cytokinesis is the physical separation of two cells that occurs after the completion of mitosis. The mechanism underlying it is v...
    Speaker: Alan Mullan, PhD , Jean Castillo-Badillo, PhD , Claudia Florindo, PhD
    Sponsored By: Andor
    7 2
    APR 30, 2020 | 7:00 AM
    Nucleic Acid Purification - Understand the details, tackle the routines!
    Nucleic Acid Purification - Understand the details, tackle the...
    DATE: April 30, 2020 TIME: 7am PT, 10am ET, 4pm CEST Aged more than one century, nucleic acid purification is anything but ordinary. Nucleic Acid Purification, also termed Nucleic Acid Extra...
    Speaker: Andreas von Bohl, PhD , Milan Dieris, PhD , Tim Schommartz, PhD
    Sponsored By: Eppendorf, Macherey-Nagel
    45 13
    APR 29, 2020 | 6:00 AM
    High-Throughput assessment of ChIP-grade capability with Luminex xMAP technology
    High-Throughput assessment of ChIP-grade capability with Luminex...
    Histone post-translational modifications (PTMs) play pivotal roles in chromatin dynamics and function, with alterations in the healthy profile associated with diverse human pathologies. The...
    Speaker: Michael-Christopher Keogh, PhD
    Presented at: xMAP® Connect Virtual Conference (On-Demand)
    1
    APR 23, 2020 | 10:30 AM
    Keynote Presentation: Systematic identification of therapeutic strategies that leverage tumor evolution
    Keynote Presentation: Systematic identification of therapeutic...
    Our laboratory uses tools from pharmacology, genomics, and cell signaling to identify new precision anticancer therapeutic strategies. Under this broad heading, our work involves three key a...
    Speaker: Kris C. Wood, PhD
    Presented at: Genetics Week Virtual Event Series 2020
    1
     
     
  • APR 23, 2020 | 9:00 AM
    Keynote Presentation: Individualized Health
    Keynote Presentation: Individualized Health
    Learning Objectives: 1. What is wrong with healthcare today 2. What kinds of omics and wearables data can be used to best predict disease risk and manage health...
    Speaker: Michael Snyder, PhD
    Presented at: Genetics Week Virtual Event Series 2020
    1
    APR 23, 2020 | 7:30 AM
    Keynote Presentation: The Massively Parallel Sequencing (MPS) Revolution
    Keynote Presentation: The Massively Parallel Sequencing (MPS)...
    The development of automated DNA sequencers using fluorescent di-deoxy nucleotide sequencing and capillary electrophoresis made it possible to generate the first draft sequences of the human...
    Speaker: David Smith, PhD
    Presented at: Genetics Week Virtual Event Series 2020
    1
    APR 22, 2020 | 12:00 AM
    Population Health and Genetic Testing
    Population Health and Genetic Testing
    With the completion of the human genome nearly two decades ago, consumers, patients, and physicians are wondering when genetic testing will go PRIME TIME. While the diagnostic utility of gen...
    Speaker: Matthew Ferber, PhD, FACMG
    Presented at: Genetics Week Virtual Event Series 2020
    1
    APR 22, 2020 | 12:00 AM
    Long-range technologies resolve complex genomic regions overlooked by short-read sequencing
    Long-range technologies resolve complex genomic regions overlooked...
    Complex genomes, including the human genome, contain ‘dark’ regions that standard short-read sequencing technologies do not adequately resolve—overlooking many variants tha...
    Speaker: Mark Ebbert, PhD
    Presented at: Genetics Week Virtual Event Series 2020
    1
    APR 22, 2020 | 12:00 AM
    Genomic Landscapes: Leveraging Genetic Evidence throughout the Pharma Pipeline
    Genomic Landscapes: Leveraging Genetic Evidence throughout the...
    Realizing the promise of Precision Medicine requires both a deep understanding of the landscape of genomic evidence and an understanding of the molecular drivers that influence all aspects o...
    Speaker: Mark Kiel, MD, PhD
    Presented at: Genetics Week Virtual Event Series 2020
    1
     
     
  • APR 21, 2020 | 1:30 PM
    Spatially Resolved Molecular Investigation of Triple Negative Breast Cancer
    Spatially Resolved Molecular Investigation of Triple Negative...
    Triple-negative breast cancer (TNBC) is an aggressive disease that accounts for 10-20% of all breast cancer cases diagnosed annually in the U.S.1. Despite its prevalence, TNBC remains resist...
    Speaker: Dina Finan, PhD , Stephen Williams, PhD
    Presented at: Genetics Week Virtual Event Series 2020
    1
    APR 21, 2020 | 12:00 PM
    SNVs to Large Structural Variation: Capturing nucleotide through inter-chromosomal variants through a powerful three-dimensional data type
    SNVs to Large Structural Variation: Capturing nucleotide through...
    Within the clinical arena, the oncology community has led the way in the early adoption of next generation sequencing. NGS is in widespread use in clinical cancer research and is now beginni...
    Speaker: Cory Padilla, PhD
    Presented at: Genetics Week Virtual Event Series 2020
    1
    APR 21, 2020 | 10:30 AM
    Long HiFi Reads for High-Quality Genome Assemblies
    Long HiFi Reads for High-Quality Genome Assemblies
    The introduction of PacBio HiFi sequence reads, which are both long (up to 25 kb currently) and accurate (>99%) at the individual single-molecule sequence read level, has allowed for adva...
    Speaker: Jonas Korlach, PhD
    Presented at: Genetics Week Virtual Event Series 2020
    Sponsored By: PacBio
    1
    APR 21, 2020 | 10:30 AM
    Optimizing human karyomapping to phase single lgene defects with improved DNA amplification
    Optimizing human karyomapping to phase single lgene defects with...
    Karyomapping, a technique for preimplantation genetic diagnosis (PGD) of single gene disorders, involves using very few or single cells, and comes with challenges due to limited amounts of s...
    Speaker: Samuel Rulli, PhD
    Presented at: Genetics Week Virtual Event Series 2020
    Sponsored By: QIAGEN
    1
    APR 21, 2020 | 5:30 AM
    PRINCESS: A Framework for Comprehensive Detection and Haplotype Phasing of SNPs and Structural Variants
    PRINCESS: A Framework for Comprehensive Detection and Haplotype...
    Long-read DNA sequencing technologies such as the Pacific Biosciences (PacBio) and Oxford Nanopore (ONT) platforms, have demonstrated enhanced detection of genomic variation, including Singl...
    Speaker: Medhat Mahmoud, PhD
    Presented at: Genetics Week Virtual Event Series 2020
    1
     
     
  • APR 21, 2020 | 12:00 AM
    Bionano Genome Imaging: unbiased, genome-wide structural variation detection in genetic disease and cancer, down to 1% allele fraction
    Bionano Genome Imaging: unbiased, genome-wide structural variation...
    Learning Objectives: 1. Learn why the complexity and repetitive structure of the human genome makes it impossible to detect all structural variants using short-read sequencing 2. Learn how h...
    Speaker: Sven Bocklandt, PhD
    Presented at: Genetics Week Virtual Event Series 2020
    1
    APR 15, 2020 | 9:00 AM
    Single-cell multi-omics: DNA methylation and 3D genome
    Single-cell multi-omics: DNA methylation and 3D genome
    DATE: April 15, 2020 TIME: 9:00am PT, 12:00pm ET We report a molecular assay, Methyl-HiC, that can simultaneously capture the chromosome conformation and DNA methylome in a cell. Methyl-HiC...
    Speaker: Yaping Liu, Ph.D.
    Sponsored By: Zymo Research
    9 3
    APR 08, 2020 | 12:00 AM
    Directed Evolution of Next-Generation AAV Vector Systems for Clinical Gene Therapy
    Directed Evolution of Next-Generation AAV Vector Systems for Clinical...
    There has been an increasing number of successful gene therapy clinical trials, leading to regulatory approvals of numerous gene therapy products, in particular ones based on the adeno-assoc...
    Speaker: David Schaffer, PhD
    Presented at: BioProcessing Virtual Event Series 2020
    2
    APR 07, 2020 | 8:00 AM
    Best Practice Criteria for Pluripotent Stem Cell Lines
    Best Practice Criteria for Pluripotent Stem Cell Lines
    DATE: April 7, 2020 TIME: 8:00am PT, 11:00am ET This webinar sets out to establish why quality control is key to robust, reliable, reproducible science. We will look at best practice criteri...
    Speaker: Lyn Healy
    Sponsored By: STEMCELL Technologies
    22
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