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    Follow

    Genetic variant

    Genetic variants define a gene that has encountered a permanent change in its DNA sequence. Some, but not all, genetic variants result in a disease. Genetic variants can be inherited or can develop overtime.

    Webinars

    • 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 02, 2020 | 2:30 PM
      Opportunities for using PacBio Long-read Sequencing for COVID-19 Research
      Opportunities for using PacBio Long-read Sequencing for COVID-19...
      Scientists worldwide are actively working to tame the COVID-19 pandemic by developing therapies for patients with severe disease and a vaccine to stem transmission. Accomplishing these two g...
      Speaker: Meredith Ashby, PhD
      Presented at: Coronavirus Series
      Sponsored By: PacBio
      1
      APR 02, 2020 | 8:00 AM
      Bionano Genome Imaging unravels complex structural rearrangements induced by replication stress in liver cancer
      Bionano Genome Imaging unravels complex structural rearrangements...
      DATE: April 2, 2020 TIME: 8:00am PT, 11:00am ET Cyclins A2 and E1 regulate the cell cycle by promoting S phase entry and progression. We recently identified a hepatocellular carcinoma (HCC)...
      Speaker: Eric Letouzé, PhD
      Sponsored By: Bionano
      14
      FEB 26, 2020 | 10:30 AM
      QIAGEN CLC Genomics Workbench 20 - scalable software for NGS data analysis
      QIAGEN CLC Genomics Workbench 20 - scalable software for NGS data...
      QIAGEN CLC Genomics Workbench is a powerful solution to analyze and visualize next generation sequencing (NGS) data. Powered by cutting-edge technology and accelerated algorithms, it support...
      Speaker: Leif Schauser, PhD
      Presented at: Drug Discovery & Development Virtual Event Series 2020
      Sponsored By: QIAGEN
      1
      FEB 19, 2020 | 11:00 AM
      Emerging as the New Gold Standard in Quality & Safety: Parallel DNA Based Cannabis Testing of Multiple Microbes
      Emerging as the New Gold Standard in Quality & Safety: Parallel...
      DATE: February 19, 2020TIME: 11:00am PST, 2:00pm EST...
      Speaker: Michael Hogan, Ph.D. , Benjamin Katchman, Ph.D.
      Sponsored By: PathogenDx
      7
      NOV 12, 2019 | 10:00 AM
      Leveraging single cell copy number to resolve tumor clonality
      Leveraging single cell copy number to resolve tumor clonality
      DATE: November 12, 2019TIME: 10:00am PSTDirect measurement of copy number by droplet-based shallow sequencing of genomic DNA has the potential to provide new insights into tumor heterog...
      Speaker: Dr. David Craig
      Sponsored By: 10x Genomics
      9 1
      NOV 06, 2019 | 1:30 PM
      Challenges towards a Universal Influenza Virus Vaccine
      Challenges towards a Universal Influenza Virus Vaccine
      Despite FDA-approved vaccines and antivirals, seasonal and pandemic influenza remains a serious threat associated with substantial morbidity and mortality. The present modalities and vaccine...
      Speaker: Peter Palese, PhD
      Presented at: Influenza Virtual Event Series 2019
      4 1
      NOV 06, 2019 | 6:00 AM
      Understanding the Pathogenesis of Human Influenza Virus: A Systems Virology Approach
      Understanding the Pathogenesis of Human Influenza Virus: A Systems...
      Multiple factors can affect and impact infection dynamics and virulence produced by influenza virus (IV) infections. Susceptibility factors and host responses can also have major effects in d...
      Speaker: Rafael Medina Silva, PhD
      Presented at: Influenza Virtual Event Series 2019
      1
      OCT 10, 2019 | 1:30 PM
      Precision oncology: Biomarkers for treatment selection in metastatic castration resistant prostate cancer
      Precision oncology: Biomarkers for treatment selection in metastatic...
      Metastatic castration resistant prostate cancer (mCRPC) refractory to secondary hormonal treatments such as enzalutamide or abiraterone acetate are the most lethal of prostate cancers. In thi...
      Speaker: Tian Zhang, MD, MHS
      Presented at: Cancer Research & Oncology Week Virtual Event Series 2019
      1
      OCT 10, 2019 | 12:00 PM
      Tumor Mutation Burden: Challenges and opportunities of measuring and interpreting tumor mutational burden for patient care
      Tumor Mutation Burden: Challenges and opportunities of measuring...
      Tumor mutational burden (TMB) is an emerging biomarker that correlates with response to immunotherapeutic agents, such as checkpoint inhibitors. Recent studies indicate that a high mutation l...
      Speaker: Ravindra Kolhe, MD, PhD
      Presented at: Cancer Research & Oncology Week Virtual Event Series 2019
      Sponsored By: QIAGEN
      1
      OCT 10, 2019 | 10:30 AM
      Whole genome imaging for sensitive and accurate analysis of structural variations in cancer
      Whole genome imaging for sensitive and accurate analysis of structural...
      Accumulation of structural variations (SVs) across the genome is a known trigger factor for oncogenesis. Structural mutations have been clearly implicated in a number of cancers, most notably...
      Speaker: Sven Bocklandt, PhD
      Presented at: Cancer Research & Oncology Week Virtual Event Series 2019
      Sponsored By: Bionano
      1
      OCT 03, 2019 | 7:30 AM
      Keynote Presentation: CRISPR/Cas9 genome editing in mouse and rat: The PHENOMIN-ICS experience
      Keynote Presentation: CRISPR/Cas9 genome editing in mouse and...
      CRISPR/Cas9 technology has become very popular in the last 5 years and has profoundly changed our way to do genetically engineered animals. I will present the latest development in genome edi...
      Speaker: Marie-Christine Birling, PhD
      Presented at: CRISPR Virtual Event Series 2019
      1
      SEP 30, 2019 | 8:00 AM
      Discovery and Verification of eQTLs Associated with Lung Adenocarcinoma
      Discovery and Verification of eQTLs Associated with Lung Adenocarcinoma
      DATE: September 30, 2019TIME: 8:00am PDT, 11:00am EDT, 5:00pm CEST Expression quantitative trait loci (eQTLs) are SNPs that have an influence on expression levels of genes, and the ident...
      Speaker: Tommaso Dragani , Harita Veereshlingam, PhD
      Sponsored By: Thermo Fisher Scientific - Applied Biosystems
      9
      SEP 05, 2019 | 7:00 AM
      The bread and butter method of genomics: How to improve your (q)PCR
      The bread and butter method of genomics: How to improve your (q)PCR
      DATE: September 5, 2019TIME: 7:00am PT, 10:00am ET, 4:00pm CEST PCR (Polymerase Chain Reaction) has gone through a massive evolution since its development in 1983. Besides it...
      Speaker: Tim Schommartz, PhD
      Sponsored By: Eppendorf
      17 1
      JUN 20, 2019 | 1:30 PM
      Rapid Variant Modeling in a Hospital Setting
      Rapid Variant Modeling in a Hospital Setting
      Implementing precision genomic medicine in the pediatric acute care setting has several challenges. First, the diagnosis must be made quickly. Second, the determination of pathogenicity mus...
      Speaker: Matthew Bainbridge, PhD
      Presented at: Precision Medicine Virtual Event Series 2019
      1
      JUN 20, 2019 | 1:30 PM
      Single Cell CNV End-to-End Workflow to Dissect Tumor Heterogeneity
      Single Cell CNV End-to-End Workflow to Dissect Tumor Heterogeneity
      Tumor heterogeneity is a hallmark of cancer and can have significant impact on identifying drivers, including those that may be therapeutically relevant. Although, the traditional sequencing...
      Speaker: Lee Gibbs, PhD
      Presented at: Precision Medicine Virtual Event Series 2019
      1
      JUN 20, 2019 | 12:00 PM
      Tissue and cfDNA Rare Alleles: How Low Can We Go?
      Tissue and cfDNA Rare Alleles: How Low Can We Go?
      This talk will review successful efforts at Washington University to employ novel reagents and informatics to the problem of rare allele detection. I will discuss a published bakeoff of in si...
      Speaker: Seth Crosby, MD
      Presented at: Precision Medicine Virtual Event Series 2019
      1
      JUN 20, 2019 | 10:30 AM
      Beyond the Score: Tools for Pan-Biomarker Analysis and TMB Estimation Enabling Deeper Understanding of Somatic Alterations that Contribute to Cancer Initiation, Progression and Recurrence
      Beyond the Score: Tools for Pan-Biomarker Analysis and TMB Estimation...
      Tumor mutational burden (TMB) is an emerging biomarker that correlates with response to immunotherapeutic agents, such as checkpoint inhibitors. Recent studies indicate that a high mutation l...
      Speaker: Beate Litzenburger, Ph.D. , Raed Samara, PhD
      Presented at: Precision Medicine Virtual Event Series 2019
      Sponsored By: QIAGEN
      1
      JUN 20, 2019 | 6:00 AM
      See Further: Expanded Carrier Screening Tools That Take You From Sample to Insight
      See Further: Expanded Carrier Screening Tools That Take You From...
      Inherited disorders affect millions of people globally. These diseases significantly impact lives of patients and their families, and in addition, also results in substantial socio-economic i...
      Speaker: Raed Samara, PhD , Rupert Yip, PhD
      Presented at: Precision Medicine Virtual Event Series 2019
      Sponsored By: QIAGEN
      1
      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
      Polygenic Risk Scores: PheWas and GWAS and Utility of Biobank Information
      Polygenic Risk Scores: PheWas and GWAS and Utility of Biobank...
      The advent of precision medicine largely depends on the creation of precise and accurate predictive tools. While most late-onset diseases are moderately to highly heritable, using genetic inf...
      Speaker: Guillaume Paré, MD, MSc, FRCPC
      Presented at: Genetics and Genomics Virtual Event Series 2019
      Sponsored By: Illumina
      2 1
      MAY 09, 2019 | 6:00 AM
      AI-Driven Literature Curation for Determining Genomic Variant Pathogenicity
      AI-Driven Literature Curation for Determining Genomic Variant...
      Variant interpretation presents a bottleneck for many labs, posing a challenge to the broader adoption of precision medicine. The ACMG/AMP variant classification framework has provided a foun...
      Speaker: Mark Kiel, MD, PhD
      Presented at: Genetics and Genomics Virtual Event Series 2019
      4
      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
    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 02, 2020 | 2:30 PM
    Opportunities for using PacBio Long-read Sequencing for COVID-19 Research
    Opportunities for using PacBio Long-read Sequencing for COVID-19...
    Scientists worldwide are actively working to tame the COVID-19 pandemic by developing therapies for patients with severe disease and a vaccine to stem transmission. Accomplishing these two g...
    Speaker: Meredith Ashby, PhD
    Presented at: Coronavirus Series
    Sponsored By: PacBio
    1
    APR 02, 2020 | 8:00 AM
    Bionano Genome Imaging unravels complex structural rearrangements induced by replication stress in liver cancer
    Bionano Genome Imaging unravels complex structural rearrangements...
    DATE: April 2, 2020 TIME: 8:00am PT, 11:00am ET Cyclins A2 and E1 regulate the cell cycle by promoting S phase entry and progression. We recently identified a hepatocellular carcinoma (HCC)...
    Speaker: Eric Letouzé, PhD
    Sponsored By: Bionano
    14
    FEB 26, 2020 | 10:30 AM
    QIAGEN CLC Genomics Workbench 20 - scalable software for NGS data analysis
    QIAGEN CLC Genomics Workbench 20 - scalable software for NGS data...
    QIAGEN CLC Genomics Workbench is a powerful solution to analyze and visualize next generation sequencing (NGS) data. Powered by cutting-edge technology and accelerated algorithms, it support...
    Speaker: Leif Schauser, PhD
    Presented at: Drug Discovery & Development Virtual Event Series 2020
    Sponsored By: QIAGEN
    1
     
     
  • FEB 19, 2020 | 11:00 AM
    Emerging as the New Gold Standard in Quality & Safety: Parallel DNA Based Cannabis Testing of Multiple Microbes
    Emerging as the New Gold Standard in Quality & Safety: Parallel...
    DATE: February 19, 2020TIME: 11:00am PST, 2:00pm EST...
    Speaker: Michael Hogan, Ph.D. , Benjamin Katchman, Ph.D.
    Sponsored By: PathogenDx
    7
    NOV 12, 2019 | 10:00 AM
    Leveraging single cell copy number to resolve tumor clonality
    Leveraging single cell copy number to resolve tumor clonality
    DATE: November 12, 2019TIME: 10:00am PSTDirect measurement of copy number by droplet-based shallow sequencing of genomic DNA has the potential to provide new insights into tumor heterog...
    Speaker: Dr. David Craig
    Sponsored By: 10x Genomics
    9 1
    NOV 06, 2019 | 1:30 PM
    Challenges towards a Universal Influenza Virus Vaccine
    Challenges towards a Universal Influenza Virus Vaccine
    Despite FDA-approved vaccines and antivirals, seasonal and pandemic influenza remains a serious threat associated with substantial morbidity and mortality. The present modalities and vaccine...
    Speaker: Peter Palese, PhD
    Presented at: Influenza Virtual Event Series 2019
    4 1
    NOV 06, 2019 | 6:00 AM
    Understanding the Pathogenesis of Human Influenza Virus: A Systems Virology Approach
    Understanding the Pathogenesis of Human Influenza Virus: A Systems...
    Multiple factors can affect and impact infection dynamics and virulence produced by influenza virus (IV) infections. Susceptibility factors and host responses can also have major effects in d...
    Speaker: Rafael Medina Silva, PhD
    Presented at: Influenza Virtual Event Series 2019
    1
    OCT 10, 2019 | 1:30 PM
    Precision oncology: Biomarkers for treatment selection in metastatic castration resistant prostate cancer
    Precision oncology: Biomarkers for treatment selection in metastatic...
    Metastatic castration resistant prostate cancer (mCRPC) refractory to secondary hormonal treatments such as enzalutamide or abiraterone acetate are the most lethal of prostate cancers. In thi...
    Speaker: Tian Zhang, MD, MHS
    Presented at: Cancer Research & Oncology Week Virtual Event Series 2019
    1
     
     
  • OCT 10, 2019 | 12:00 PM
    Tumor Mutation Burden: Challenges and opportunities of measuring and interpreting tumor mutational burden for patient care
    Tumor Mutation Burden: Challenges and opportunities of measuring...
    Tumor mutational burden (TMB) is an emerging biomarker that correlates with response to immunotherapeutic agents, such as checkpoint inhibitors. Recent studies indicate that a high mutation l...
    Speaker: Ravindra Kolhe, MD, PhD
    Presented at: Cancer Research & Oncology Week Virtual Event Series 2019
    Sponsored By: QIAGEN
    1
    OCT 10, 2019 | 10:30 AM
    Whole genome imaging for sensitive and accurate analysis of structural variations in cancer
    Whole genome imaging for sensitive and accurate analysis of structural...
    Accumulation of structural variations (SVs) across the genome is a known trigger factor for oncogenesis. Structural mutations have been clearly implicated in a number of cancers, most notably...
    Speaker: Sven Bocklandt, PhD
    Presented at: Cancer Research & Oncology Week Virtual Event Series 2019
    Sponsored By: Bionano
    1
    OCT 03, 2019 | 7:30 AM
    Keynote Presentation: CRISPR/Cas9 genome editing in mouse and rat: The PHENOMIN-ICS experience
    Keynote Presentation: CRISPR/Cas9 genome editing in mouse and...
    CRISPR/Cas9 technology has become very popular in the last 5 years and has profoundly changed our way to do genetically engineered animals. I will present the latest development in genome edi...
    Speaker: Marie-Christine Birling, PhD
    Presented at: CRISPR Virtual Event Series 2019
    1
    SEP 30, 2019 | 8:00 AM
    Discovery and Verification of eQTLs Associated with Lung Adenocarcinoma
    Discovery and Verification of eQTLs Associated with Lung Adenocarcinoma
    DATE: September 30, 2019TIME: 8:00am PDT, 11:00am EDT, 5:00pm CEST Expression quantitative trait loci (eQTLs) are SNPs that have an influence on expression levels of genes, and the ident...
    Speaker: Tommaso Dragani , Harita Veereshlingam, PhD
    Sponsored By: Thermo Fisher Scientific - Applied Biosystems
    9
    SEP 05, 2019 | 7:00 AM
    The bread and butter method of genomics: How to improve your (q)PCR
    The bread and butter method of genomics: How to improve your (q)PCR
    DATE: September 5, 2019TIME: 7:00am PT, 10:00am ET, 4:00pm CEST PCR (Polymerase Chain Reaction) has gone through a massive evolution since its development in 1983. Besides it...
    Speaker: Tim Schommartz, PhD
    Sponsored By: Eppendorf
    17 1
     
     
  • JUN 20, 2019 | 1:30 PM
    Rapid Variant Modeling in a Hospital Setting
    Rapid Variant Modeling in a Hospital Setting
    Implementing precision genomic medicine in the pediatric acute care setting has several challenges. First, the diagnosis must be made quickly. Second, the determination of pathogenicity mus...
    Speaker: Matthew Bainbridge, PhD
    Presented at: Precision Medicine Virtual Event Series 2019
    1
    JUN 20, 2019 | 1:30 PM
    Single Cell CNV End-to-End Workflow to Dissect Tumor Heterogeneity
    Single Cell CNV End-to-End Workflow to Dissect Tumor Heterogeneity
    Tumor heterogeneity is a hallmark of cancer and can have significant impact on identifying drivers, including those that may be therapeutically relevant. Although, the traditional sequencing...
    Speaker: Lee Gibbs, PhD
    Presented at: Precision Medicine Virtual Event Series 2019
    1
    JUN 20, 2019 | 12:00 PM
    Tissue and cfDNA Rare Alleles: How Low Can We Go?
    Tissue and cfDNA Rare Alleles: How Low Can We Go?
    This talk will review successful efforts at Washington University to employ novel reagents and informatics to the problem of rare allele detection. I will discuss a published bakeoff of in si...
    Speaker: Seth Crosby, MD
    Presented at: Precision Medicine Virtual Event Series 2019
    1
    JUN 20, 2019 | 10:30 AM
    Beyond the Score: Tools for Pan-Biomarker Analysis and TMB Estimation Enabling Deeper Understanding of Somatic Alterations that Contribute to Cancer Initiation, Progression and Recurrence
    Beyond the Score: Tools for Pan-Biomarker Analysis and TMB Estimation...
    Tumor mutational burden (TMB) is an emerging biomarker that correlates with response to immunotherapeutic agents, such as checkpoint inhibitors. Recent studies indicate that a high mutation l...
    Speaker: Beate Litzenburger, Ph.D. , Raed Samara, PhD
    Presented at: Precision Medicine Virtual Event Series 2019
    Sponsored By: QIAGEN
    1
    JUN 20, 2019 | 6:00 AM
    See Further: Expanded Carrier Screening Tools That Take You From Sample to Insight
    See Further: Expanded Carrier Screening Tools That Take You From...
    Inherited disorders affect millions of people globally. These diseases significantly impact lives of patients and their families, and in addition, also results in substantial socio-economic i...
    Speaker: Raed Samara, PhD , Rupert Yip, PhD
    Presented at: Precision Medicine Virtual Event Series 2019
    Sponsored By: QIAGEN
    1
     
     
  • 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
    Polygenic Risk Scores: PheWas and GWAS and Utility of Biobank Information
    Polygenic Risk Scores: PheWas and GWAS and Utility of Biobank...
    The advent of precision medicine largely depends on the creation of precise and accurate predictive tools. While most late-onset diseases are moderately to highly heritable, using genetic inf...
    Speaker: Guillaume Paré, MD, MSc, FRCPC
    Presented at: Genetics and Genomics Virtual Event Series 2019
    Sponsored By: Illumina
    2 1
    MAY 09, 2019 | 6:00 AM
    AI-Driven Literature Curation for Determining Genomic Variant Pathogenicity
    AI-Driven Literature Curation for Determining Genomic Variant...
    Variant interpretation presents a bottleneck for many labs, posing a challenge to the broader adoption of precision medicine. The ACMG/AMP variant classification framework has provided a foun...
    Speaker: Mark Kiel, MD, PhD
    Presented at: Genetics and Genomics Virtual Event Series 2019
    4
    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
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