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    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

    • JUN 29, 2021 | 8:00 AM
      Leveraging acoustic and tip-based liquid handling to increase SARS-CoV-2 sequencing throughput
      Leveraging acoustic and tip-based liquid handling to increase...
      Date: June 29, 2021 Time: 08:00am PDT As the SARS-CoV-2 virus that causes COVID-19 keeps mutating, there is a growing need to sequence the viral genome from many COVID-19-positive samples to...
      Speaker: Dr. Eric Chow
      Sponsored By: Beckman Coulter Life Sciences
      13 1
      JUN 24, 2021 | 7:00 AM
      Improved quantitative understanding of oncological replication kinetics  using molecular combing
      Improved quantitative understanding of oncological replication...
      Date: June 24, 2021 Time: 7:00am (PDT), 10:00am (EDT), 4:00pm (CEST) Problem: A comprehensive mechanistic understanding of how genetic alterations impact cancer development and therapeutic i...
      Speaker: Mario Avarello, MSc
      Sponsored By: Genomic Vision
      3
      JUN 22, 2021 | 10:00 AM
      Role of Cov-2 Serology in a vaccinated world
      Role of Cov-2 Serology in a vaccinated world
      Date: June 22, 2021 Time: 10:00am PST The objectives of this presentation are (1) to review current and emerging SARS-CoV-2 serology applications, (2) to discuss variation among different SA...
      Speaker: David M. Engman, MD, PhD
      Sponsored By: Diasorin
      25
      JUN 15, 2021 | 9:00 AM
      HbA1c: The Hidden Factors - Biological Interferences
      HbA1c: The Hidden Factors - Biological Interferences
      Date: June 15, 2021 Time: 9:00am PDT HbA1c is routinely used in the clinical laboratory to diagnose and monitor diabetes mellitus. Many methods have been standardized to provide precise and...
      Speaker: John Higgins , David Sacks
      Sponsored By: Sebia, Inc.
      47 2
      JUN 10, 2021 | 7:00 AM
      Simplify complex genetic diseases by quantifying structural and copy number variants
      Simplify complex genetic diseases by quantifying structural and...
      Date: June 10, 2021 Time: 7:00am (PDT), 10:00am (EDT), 4:00pm (CEST) Discover how to categorize small-to-large genetic modifications using molecular combing. Our Proprietary Genome Morse Cod...
      Speaker: Mario Avarello, MSc
      Sponsored By: Genomic Vision
      8 1
      JUN 03, 2021 | 8:00 AM
      How molecular combing technology is transforming genomic research through visualizing DNA at the single-molecule level
      How molecular combing technology is transforming genomic research...
      Date: June 3, 2021 Time: 8:00am (PDT), 11:00am (EDT), 5:00pm (CEST) Molecular combing provides unbiased quantification and characterization of DNA structure and dynamics by imaging single DN...
      Speaker: Mark Lynch
      Sponsored By: Genomic Vision
      11 1
      JUN 02, 2021 | 10:00 AM
      Recent advances for simultaneous analysis to determine embryo PGT-A and PGT-M status with NGS
      Recent advances for simultaneous analysis to determine embryo...
      Date: June 2, 2021 Time: 10:00am PDT Preimplantation genetic testing (PGT) is typically performed on a limited number of cells from an embryo biopsy and is used to prioritize embryos for tra...
      Speaker: Cengiz Cinnioglu, PhD
      Sponsored By: Thermo Fisher Scientific
      13
      MAY 05, 2021 | 8:00 AM
      The Impact of SARS-CoV-2 Genomic Surveillance Locally, Nationally, and Globally
      The Impact of SARS-CoV-2 Genomic Surveillance Locally, Nationally,...
      Date: May 5, 2021 Time: 8:00am PDT, 11:00am EDT Emergence of genetic mutations within the SARS-CoV-2 genome that may enhance transmissibility, increase symptom severity or improve the virus...
      Speaker: Dr. Jared Aulcair
      Sponsored By: Thermo Fisher Scientific
      17
      APR 29, 2021 | 1:15 PM
      Oncomine Reporter: A Powerful Tool for Oncology NGS Reports
      Oncomine Reporter: A Powerful Tool for Oncology NGS Reports
      Cancer is among the leading causes of death worldwide. In 2018, there were 18.1 million new cases and 9.5 million cancer-related deaths worldwide. With the advancement of next generation seq...
      Speaker: Xia Li, Ph.D., DABMGG, CG(ASCP), FACMG
      Presented at: OncomineWorld 2022: A Virtual NGS Education Meeting
      4
      APR 29, 2021 | 1:35 PM
      Validation of combined DNA and RNA sequencing in Myeloid neoplasms
      Validation of combined DNA and RNA sequencing in Myeloid neoplasms
      Myeloid neoplasms represent a highly heterogeneous group of diseases that encompass myeloproliferative, myelodysplastic (myeloproliferative/myelodysplastic) syndrome and acute myeloid leukem...
      Speaker: Neeraj Arora, MD, PDF
      Presented at: OncomineWorld 2022: A Virtual NGS Education Meeting
      4 1
      APR 28, 2021 | 7:00 AM
      Host genome analysis of structural variations by Optical Genome Mapping in patients with severe COVID-19
      Host genome analysis of structural variations by Optical Genome...
      Date: April 28, 2021 Time: 7:00am (PDT), 10:00am (EDT) The varied clinical manifestations and outcomes in patients with SARS-CoV-2 infections implicate a role of host-genetics in the predisp...
      Speaker: Ravindra Kolhe, MD, PhD
      Sponsored By: Bionano
      9 2
      APR 22, 2021 | 9:00 AM
      Panel Presentation: DPYD Testing: Pharmacogenomics in a Clinical Setting
      Panel Presentation: DPYD Testing: Pharmacogenomics in a Clinical...
      (Adapted from a DPYD verification document written by Hannah Stevens, Trainee Clinical Scientist) 5-Fluorouracil (5-FU) and capecitabine are fluoropyrimidine chemotherapies that are used to...
      Speaker: Holly Ellis, MSc, BA , Hannah Stevens, PhD
      Presented at: Genetics Week Virtual Event Series 2021
      2
      APR 22, 2021 | 6:00 AM
      Panel Presentation: Powering the precision in "precision medicine" - The role of curated data, databases and knowledge: Does a gold standard exist?
      Panel Presentation: Powering the precision in "precision medicine"...
      As NGS panels grow, test interpretation becomes more complex and time-consuming / With the explosion of NGS data, the need for consolidated databases with reliable and transparent curation a...
      Speaker: Dominic John , Simon Forbes, PhD , Shawn Bauer , Lisa Barrow-Laing
      Presented at: Genetics Week Virtual Event Series 2021
      Sponsored By: QIAGEN
      2
      APR 22, 2021 | 10:00 AM
      Role of Chromosomal Microarray in the Era of Genome Sequencing
      Role of Chromosomal Microarray in the Era of Genome Sequencing
      Date: April 22, 2021 Time: 10:00am (CEST), 4:00pm (CST) Advancements in technologies have revolutionized the genetic landscape. Chromosomal microarray analysis (CMA) becomes a proven method...
      Speaker: Richard Choy, BSc (Brad.); MSc(Med) (Birm.); PhD (CUHK)Professor
      Sponsored By: Agilent
      5
      APR 22, 2021 | 12:00 AM
      Efficient Implementation of DPYD Testing Using an Institutional Genetics Data Repository
      Efficient Implementation of DPYD Testing Using an Institutional...
      5-fluorouracil (5-FU) and its oral analog capecitabine are fluoropyrimidine chemotherapy agents used in several solid tumors. Approximately 5% of patients inherit diminished or null activity...
      Speaker: Daniel L Hertz, PharmD, PhD
      Presented at: Genetics Week Virtual Event Series 2021
      1
      APR 22, 2021 | 12:00 AM
      An Introduction to Resources Facilitating Cancer Variant Interpretation
      An Introduction to Resources Facilitating Cancer Variant Interpretation
      Learning Objectives: 1. Identify different kinds of genomic resources 2. Learn to apply the features available in genomic resources to cancer variant interpretation 3. Describe the importanc...
      Speaker: Beth Pitel, M.S., CG(ASCP)CM
      Presented at: Genetics Week Virtual Event Series 2021
      2
      APR 21, 2021 | 7:30 AM
      Panel Presentation: Next-Generation Sequencing in the Global Response to the COVID-19 Pandemic
      Panel Presentation: Next-Generation Sequencing in the Global Response...
      The SARS-CoV-2 pandemic is challenging our health care systems and has profoundly impacted our society. Due to the poor global public health response, SARS-CoV-2 has developed many variants....
      Speaker: Eric Allen, MBA, M. Eng. Bioengineering , Michael Oberholzer, PhD
      Presented at: Genetics Week Virtual Event Series 2021
      2
      APR 21, 2021 | 6:00 AM
      Keynote Presentation: High-throughput Diagnostics and Sequencing at the Pandemic Response Lab NYC
      Keynote Presentation: High-throughput Diagnostics and Sequencing...
      Controlling the spread of the 2019 novel coronavirus SARS-CoV-2 and ensuring a return to 'normal' activities in a post-COVID world requires two complementary efforts: 1) Widespread a...
      Speaker: Jon M. Laurent, PhD
      Presented at: Genetics Week Virtual Event Series 2021
      2
      APR 21, 2021 | 12:00 AM
      The Importance of Hybrid-capture Technology to Recognize and Characterize Viral Threats
      The Importance of Hybrid-capture Technology to Recognize and Characterize...
      As viral threats continue to emerge, viral detection assays are important not only for recognizing if a virus is present, but also for surveillance and variant characterization. Accurate det...
      Speaker: Rebecca Nugent, PhD
      Presented at: Genetics Week Virtual Event Series 2021
      1
      APR 21, 2021 | 12:00 AM
      Hybrid Capture SARS-CoV-2 NGS Assay and COVID-Dx: a robust end to end solution for viral detection and surveillance of genetic variants
      Hybrid Capture SARS-CoV-2 NGS Assay and COVID-Dx: a robust end...
      As the SARS-CoV-2 continues to spread and evolve and vaccination efforts are under way, countries around the world are confronting new public health challenges due to the emergence and rapid...
      Speaker: Mara Couto-Rodriguez
      Presented at: Genetics Week Virtual Event Series 2021
      1
      APR 21, 2021 | 12:00 AM
      High Throughput Testing for SARS-CoV-2 and SNP Analysis for Variants of Concern
      High Throughput Testing for SARS-CoV-2 and SNP Analysis for Variants...
      As part of Healthy Davis Together, we have implemented rapid, inexpensive, high throughput testing for SARS-Cov-2 using technology repurposed from the agricultural biotechnology sector. This...
      Speaker: Richard Michelmore
      Presented at: Genetics Week Virtual Event Series 2021
      1
      APR 20, 2021 | 3:00 PM
      Panel Presentation: Accelerating precision oncology with matched FFPE and plasma biospecimens characterized using Discovery's SpecimenSeqâ„¢ NGS Service and QIAGEN's QIAseq Multimodal Panels
      Panel Presentation: Accelerating precision oncology with matched...
      Bridging a deep understanding of molecular profiles with clinical information is critical to developing innovative precision medicine tools in oncology. Discovery’s recently launched S...
      Speaker: Nathan Henson, MS , Donald Skifter, PhD, MBA
      Presented at: Genetics Week Virtual Event Series 2021
      Sponsored By: QIAGEN
      2
      APR 20, 2021 | 7:30 AM
      C.E. CREDITS
      Keynote Presentation: A structural variation map of 499 Han Chinese individuals using long-read sequencing data
      Keynote Presentation: A structural variation map of 499 Han Chinese...
      Structural variants (SVs) are essential in human evolution and genetic disease but remain understudied. This is especially the case for non-Caucasian ethnicities. We report, for the first ti...
      Speaker: Fritz Sedlazeck, PhD
      Presented at: Genetics Week Virtual Event Series 2021
      1
      APR 20, 2021 | 12:00 AM
      C.E. CREDITS
      Developing disease insights with genotype-specific regulatory networks
      Developing disease insights with genotype-specific regulatory...
      The recent explosion in the sample sizes and diversity of omics assays has created exciting new opportunities for biomedical scientists. However, connecting these omics data types in an inte...
      Speaker: John Platig, PhD
      Presented at: Genetics Week Virtual Event Series 2021
      2
    JUN 29, 2021 | 8:00 AM
    Leveraging acoustic and tip-based liquid handling to increase SARS-CoV-2 sequencing throughput
    Leveraging acoustic and tip-based liquid handling to increase...
    Date: June 29, 2021 Time: 08:00am PDT As the SARS-CoV-2 virus that causes COVID-19 keeps mutating, there is a growing need to sequence the viral genome from many COVID-19-positive samples to...
    Speaker: Dr. Eric Chow
    Sponsored By: Beckman Coulter Life Sciences
    13 1
    JUN 24, 2021 | 7:00 AM
    Improved quantitative understanding of oncological replication kinetics  using molecular combing
    Improved quantitative understanding of oncological replication...
    Date: June 24, 2021 Time: 7:00am (PDT), 10:00am (EDT), 4:00pm (CEST) Problem: A comprehensive mechanistic understanding of how genetic alterations impact cancer development and therapeutic i...
    Speaker: Mario Avarello, MSc
    Sponsored By: Genomic Vision
    3
    JUN 22, 2021 | 10:00 AM
    Role of Cov-2 Serology in a vaccinated world
    Role of Cov-2 Serology in a vaccinated world
    Date: June 22, 2021 Time: 10:00am PST The objectives of this presentation are (1) to review current and emerging SARS-CoV-2 serology applications, (2) to discuss variation among different SA...
    Speaker: David M. Engman, MD, PhD
    Sponsored By: Diasorin
    25
    JUN 15, 2021 | 9:00 AM
    HbA1c: The Hidden Factors - Biological Interferences
    HbA1c: The Hidden Factors - Biological Interferences
    Date: June 15, 2021 Time: 9:00am PDT HbA1c is routinely used in the clinical laboratory to diagnose and monitor diabetes mellitus. Many methods have been standardized to provide precise and...
    Speaker: John Higgins , David Sacks
    Sponsored By: Sebia, Inc.
    47 2
    JUN 10, 2021 | 7:00 AM
    Simplify complex genetic diseases by quantifying structural and copy number variants
    Simplify complex genetic diseases by quantifying structural and...
    Date: June 10, 2021 Time: 7:00am (PDT), 10:00am (EDT), 4:00pm (CEST) Discover how to categorize small-to-large genetic modifications using molecular combing. Our Proprietary Genome Morse Cod...
    Speaker: Mario Avarello, MSc
    Sponsored By: Genomic Vision
    8 1
     
     
  • JUN 03, 2021 | 8:00 AM
    How molecular combing technology is transforming genomic research through visualizing DNA at the single-molecule level
    How molecular combing technology is transforming genomic research...
    Date: June 3, 2021 Time: 8:00am (PDT), 11:00am (EDT), 5:00pm (CEST) Molecular combing provides unbiased quantification and characterization of DNA structure and dynamics by imaging single DN...
    Speaker: Mark Lynch
    Sponsored By: Genomic Vision
    11 1
    JUN 02, 2021 | 10:00 AM
    Recent advances for simultaneous analysis to determine embryo PGT-A and PGT-M status with NGS
    Recent advances for simultaneous analysis to determine embryo...
    Date: June 2, 2021 Time: 10:00am PDT Preimplantation genetic testing (PGT) is typically performed on a limited number of cells from an embryo biopsy and is used to prioritize embryos for tra...
    Speaker: Cengiz Cinnioglu, PhD
    Sponsored By: Thermo Fisher Scientific
    13
    MAY 05, 2021 | 8:00 AM
    The Impact of SARS-CoV-2 Genomic Surveillance Locally, Nationally, and Globally
    The Impact of SARS-CoV-2 Genomic Surveillance Locally, Nationally,...
    Date: May 5, 2021 Time: 8:00am PDT, 11:00am EDT Emergence of genetic mutations within the SARS-CoV-2 genome that may enhance transmissibility, increase symptom severity or improve the virus...
    Speaker: Dr. Jared Aulcair
    Sponsored By: Thermo Fisher Scientific
    17
    APR 29, 2021 | 1:15 PM
    Oncomine Reporter: A Powerful Tool for Oncology NGS Reports
    Oncomine Reporter: A Powerful Tool for Oncology NGS Reports
    Cancer is among the leading causes of death worldwide. In 2018, there were 18.1 million new cases and 9.5 million cancer-related deaths worldwide. With the advancement of next generation seq...
    Speaker: Xia Li, Ph.D., DABMGG, CG(ASCP), FACMG
    Presented at: OncomineWorld 2022: A Virtual NGS Education Meeting
    4
    APR 29, 2021 | 1:35 PM
    Validation of combined DNA and RNA sequencing in Myeloid neoplasms
    Validation of combined DNA and RNA sequencing in Myeloid neoplasms
    Myeloid neoplasms represent a highly heterogeneous group of diseases that encompass myeloproliferative, myelodysplastic (myeloproliferative/myelodysplastic) syndrome and acute myeloid leukem...
    Speaker: Neeraj Arora, MD, PDF
    Presented at: OncomineWorld 2022: A Virtual NGS Education Meeting
    4 1
     
     
  • APR 28, 2021 | 7:00 AM
    Host genome analysis of structural variations by Optical Genome Mapping in patients with severe COVID-19
    Host genome analysis of structural variations by Optical Genome...
    Date: April 28, 2021 Time: 7:00am (PDT), 10:00am (EDT) The varied clinical manifestations and outcomes in patients with SARS-CoV-2 infections implicate a role of host-genetics in the predisp...
    Speaker: Ravindra Kolhe, MD, PhD
    Sponsored By: Bionano
    9 2
    APR 22, 2021 | 9:00 AM
    Panel Presentation: DPYD Testing: Pharmacogenomics in a Clinical Setting
    Panel Presentation: DPYD Testing: Pharmacogenomics in a Clinical...
    (Adapted from a DPYD verification document written by Hannah Stevens, Trainee Clinical Scientist) 5-Fluorouracil (5-FU) and capecitabine are fluoropyrimidine chemotherapies that are used to...
    Speaker: Holly Ellis, MSc, BA , Hannah Stevens, PhD
    Presented at: Genetics Week Virtual Event Series 2021
    2
    APR 22, 2021 | 6:00 AM
    Panel Presentation: Powering the precision in "precision medicine" - The role of curated data, databases and knowledge: Does a gold standard exist?
    Panel Presentation: Powering the precision in "precision medicine"...
    As NGS panels grow, test interpretation becomes more complex and time-consuming / With the explosion of NGS data, the need for consolidated databases with reliable and transparent curation a...
    Speaker: Dominic John , Simon Forbes, PhD , Shawn Bauer , Lisa Barrow-Laing
    Presented at: Genetics Week Virtual Event Series 2021
    Sponsored By: QIAGEN
    2
    APR 22, 2021 | 10:00 AM
    Role of Chromosomal Microarray in the Era of Genome Sequencing
    Role of Chromosomal Microarray in the Era of Genome Sequencing
    Date: April 22, 2021 Time: 10:00am (CEST), 4:00pm (CST) Advancements in technologies have revolutionized the genetic landscape. Chromosomal microarray analysis (CMA) becomes a proven method...
    Speaker: Richard Choy, BSc (Brad.); MSc(Med) (Birm.); PhD (CUHK)Professor
    Sponsored By: Agilent
    5
    APR 22, 2021 | 12:00 AM
    Efficient Implementation of DPYD Testing Using an Institutional Genetics Data Repository
    Efficient Implementation of DPYD Testing Using an Institutional...
    5-fluorouracil (5-FU) and its oral analog capecitabine are fluoropyrimidine chemotherapy agents used in several solid tumors. Approximately 5% of patients inherit diminished or null activity...
    Speaker: Daniel L Hertz, PharmD, PhD
    Presented at: Genetics Week Virtual Event Series 2021
    1
     
     
  • APR 22, 2021 | 12:00 AM
    An Introduction to Resources Facilitating Cancer Variant Interpretation
    An Introduction to Resources Facilitating Cancer Variant Interpretation
    Learning Objectives: 1. Identify different kinds of genomic resources 2. Learn to apply the features available in genomic resources to cancer variant interpretation 3. Describe the importanc...
    Speaker: Beth Pitel, M.S., CG(ASCP)CM
    Presented at: Genetics Week Virtual Event Series 2021
    2
    APR 21, 2021 | 7:30 AM
    Panel Presentation: Next-Generation Sequencing in the Global Response to the COVID-19 Pandemic
    Panel Presentation: Next-Generation Sequencing in the Global Response...
    The SARS-CoV-2 pandemic is challenging our health care systems and has profoundly impacted our society. Due to the poor global public health response, SARS-CoV-2 has developed many variants....
    Speaker: Eric Allen, MBA, M. Eng. Bioengineering , Michael Oberholzer, PhD
    Presented at: Genetics Week Virtual Event Series 2021
    2
    APR 21, 2021 | 6:00 AM
    Keynote Presentation: High-throughput Diagnostics and Sequencing at the Pandemic Response Lab NYC
    Keynote Presentation: High-throughput Diagnostics and Sequencing...
    Controlling the spread of the 2019 novel coronavirus SARS-CoV-2 and ensuring a return to 'normal' activities in a post-COVID world requires two complementary efforts: 1) Widespread a...
    Speaker: Jon M. Laurent, PhD
    Presented at: Genetics Week Virtual Event Series 2021
    2
    APR 21, 2021 | 12:00 AM
    The Importance of Hybrid-capture Technology to Recognize and Characterize Viral Threats
    The Importance of Hybrid-capture Technology to Recognize and Characterize...
    As viral threats continue to emerge, viral detection assays are important not only for recognizing if a virus is present, but also for surveillance and variant characterization. Accurate det...
    Speaker: Rebecca Nugent, PhD
    Presented at: Genetics Week Virtual Event Series 2021
    1
    APR 21, 2021 | 12:00 AM
    Hybrid Capture SARS-CoV-2 NGS Assay and COVID-Dx: a robust end to end solution for viral detection and surveillance of genetic variants
    Hybrid Capture SARS-CoV-2 NGS Assay and COVID-Dx: a robust end...
    As the SARS-CoV-2 continues to spread and evolve and vaccination efforts are under way, countries around the world are confronting new public health challenges due to the emergence and rapid...
    Speaker: Mara Couto-Rodriguez
    Presented at: Genetics Week Virtual Event Series 2021
    1
     
     
  • APR 21, 2021 | 12:00 AM
    High Throughput Testing for SARS-CoV-2 and SNP Analysis for Variants of Concern
    High Throughput Testing for SARS-CoV-2 and SNP Analysis for Variants...
    As part of Healthy Davis Together, we have implemented rapid, inexpensive, high throughput testing for SARS-Cov-2 using technology repurposed from the agricultural biotechnology sector. This...
    Speaker: Richard Michelmore
    Presented at: Genetics Week Virtual Event Series 2021
    1
    APR 20, 2021 | 3:00 PM
    Panel Presentation: Accelerating precision oncology with matched FFPE and plasma biospecimens characterized using Discovery's SpecimenSeqâ„¢ NGS Service and QIAGEN's QIAseq Multimodal Panels
    Panel Presentation: Accelerating precision oncology with matched...
    Bridging a deep understanding of molecular profiles with clinical information is critical to developing innovative precision medicine tools in oncology. Discovery’s recently launched S...
    Speaker: Nathan Henson, MS , Donald Skifter, PhD, MBA
    Presented at: Genetics Week Virtual Event Series 2021
    Sponsored By: QIAGEN
    2
    APR 20, 2021 | 7:30 AM
    C.E. CREDITS
    Keynote Presentation: A structural variation map of 499 Han Chinese individuals using long-read sequencing data
    Keynote Presentation: A structural variation map of 499 Han Chinese...
    Structural variants (SVs) are essential in human evolution and genetic disease but remain understudied. This is especially the case for non-Caucasian ethnicities. We report, for the first ti...
    Speaker: Fritz Sedlazeck, PhD
    Presented at: Genetics Week Virtual Event Series 2021
    1
    APR 20, 2021 | 12:00 AM
    C.E. CREDITS
    Developing disease insights with genotype-specific regulatory networks
    Developing disease insights with genotype-specific regulatory...
    The recent explosion in the sample sizes and diversity of omics assays has created exciting new opportunities for biomedical scientists. However, connecting these omics data types in an inte...
    Speaker: John Platig, PhD
    Presented at: Genetics Week Virtual Event Series 2021
    2
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