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        Ion World 2022: The virtual event that gets real about NGS
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      • Guardians of Your Science, Ask the Expert Series
        MAY 24, 2022
        Guardians of Your Science, Ask the Expert Series
      • A cGMP Compatible, Non-Viral CAR T Cell Manufacturing Process
        MAY 24, 2022
        A cGMP Compatible, Non-Viral CAR T Cell Manufacturing Process
      • Next-Generation Sequencing (NGS) Assessment of Homologous Recombination Deficiency (HRD): Expanding NGS Data to View Events Associated with Genomic Instability
        MAY 24, 2022
        Next-Generation Sequencing (NGS) Assessment of Homologous Recombination Deficiency (HRD): Expanding NGS Data to View Events Associated with Genomic Instability
      • A digital PCR-based protocol to detect and quantify RNA editing events at hotspots
        MAY 25, 2022
        A digital PCR-based protocol to detect and quantify RNA editing events at hotspots
      • Cell-Free Tools to Revolutionize the DNA Construction Paradigm
        MAY 26, 2022
        Cell-Free Tools to Revolutionize the DNA Construction Paradigm
      • Lightning CE-SDS and fast cIEF workflows for protein therapeutics characterization with demonstrated high-throughput
        MAY 26, 2022
        Lightning CE-SDS and fast cIEF workflows for protein therapeutics characterization with demonstrated high-throughput
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      • Automated sample preparation for reproducible clinical proteomics
        MAY 19, 2022
        Automated sample preparation for reproducible clinical proteomics
      • Medical Laboratory Performance Benchmarking - Current Practice and Future Perspectives
        MAY 19, 2022
        Medical Laboratory Performance Benchmarking - Current Practice and Future Perspectives
      • On the way towards personalized medicine: Gene therapy AAV characterization by capillary electrophoresis (CE) and liquid chromatography mass spectrometry (LC-MS)
        MAY 17, 2022
        On the way towards personalized medicine: Gene therapy AAV characterization by capillary electrophoresis (CE) and liquid chromatography mass spectrometry (LC-MS)
      • Novel tools for cell line engineering with CRISPR-Cas9
        MAY 17, 2022
        Novel tools for cell line engineering with CRISPR-Cas9
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        MAY 17, 2022
        Technology Platforms for Monoclonal Antibody Development and Production
      • Implementing shallow screening strategies to accelerate microbial strain improvement
        MAY 12, 2022
        Implementing shallow screening strategies to accelerate microbial strain improvement
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      • Second COVID Boosters Not Recommended for All Adults
        Second COVID Boosters Not Recommended for All Adults
      • Suppressing Negative Memories Makes Them Fade Away
        Suppressing Negative Memories Makes Them Fade Away
      • Drug Shows Promise in treating Spinal Cord Injury
        Drug Shows Promise in treating Spinal Cord Injury
      • Why Staph Infections are Only Severe for Some
        Why Staph Infections are Only Severe for Some
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      • Black Holes Don't Always Kill, They Give Birth to Stars too
        Black Holes Don't Always Kill, They Give Birth to Stars too
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        Crisis in Ukraine Disrupts Delivery of Critical Cancer Care
      • A Gel Implant Protects from Cancer Recurrence
        A Gel Implant Protects from Cancer Recurrence
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        "Pawsitive" Effects of Pet Therapy
      • Sarin Gas Revealed as Cause of Gulf War Syndrome
        Sarin Gas Revealed as Cause of Gulf War Syndrome
      • A Novel Trigger for Cell Death is Identified
        A Novel Trigger for Cell Death is Identified
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    Variant Classification

    Variant classification is the computer-based classification of genetic variants and their variability, which usually affects genetic diagnostics as it could introduce misguided and incorrect patient classifications.

    What's Popular in Variant Classification

    Trending News

    • MAY 17, 2022
      Cell & Molecular Biology
      Single-Cell Atlas Reveals Gene Activity Across Human Tissues
      MAY 17, 2022
      Single-Cell Atlas Reveals Gene Activity Across Human Tissues
      Scientists have learned a lot about individual genes, especially those that are connected to human disease. And while we ...
      Written By: Carmen Leitch
      MAY 16, 2022
      Genetics & Genomics
      Sarin Gas Revealed as Cause of Gulf War Syndrome
      MAY 16, 2022
      Sarin Gas Revealed as Cause of Gulf War Syndrome
      Gulf War illness (GWI) is an umbrella term that describes an array of chronic symptoms that have impacted an estimated 2 ...
      Written By: Carmen Leitch
      MAR 07, 2022
      Immunology
      Newly Discovered T Cell Subset is Linked to Autoimmune Disease
      MAR 07, 2022
      Newly Discovered T Cell Subset is Linked to Autoimmune Disease
      T cells are on the front lines of the immune system, and can work against infections and cancer cells. But the activity ...
      Written By: Carmen Leitch
      FEB 24, 2022
      Genetics & Genomics
      Can Evolutionary Changes Happen Suddenly?
      FEB 24, 2022
      Can Evolutionary Changes Happen Suddenly?
      When we think of evolutionary changes, we tend to consider long stretches of time. But can evolution happen rapidly? The ...
      Written By: Carmen Leitch
      FEB 16, 2022
      Genetics & Genomics
      Protective Genetic Variants Can Shield Carriers From Disease
      FEB 16, 2022
      Protective Genetic Variants Can Shield Carriers From Disease
      The human genome contains mostly the same genes from one person to another, but there are tiny sequence differences in t ...
      Written By: Carmen Leitch
    MAY 17, 2022
    Cell & Molecular Biology
    Single-Cell Atlas Reveals Gene Activity Across Human Tissues
    MAY 17, 2022
    Single-Cell Atlas Reveals Gene Activity Across Human Tissues
    Scientists have learned a lot about individual genes, especially those that are connected to human disease. And while we ...
    Written By: Carmen Leitch
    MAY 16, 2022
    Genetics & Genomics
    Sarin Gas Revealed as Cause of Gulf War Syndrome
    MAY 16, 2022
    Sarin Gas Revealed as Cause of Gulf War Syndrome
    Gulf War illness (GWI) is an umbrella term that describes an array of chronic symptoms that have impacted an estimated 2 ...
    Written By: Carmen Leitch
    MAR 07, 2022
    Immunology
    Newly Discovered T Cell Subset is Linked to Autoimmune Disease
    MAR 07, 2022
    Newly Discovered T Cell Subset is Linked to Autoimmune Disease
    T cells are on the front lines of the immune system, and can work against infections and cancer cells. But the activity ...
    Written By: Carmen Leitch
     
     
    FEB 24, 2022
    Genetics & Genomics
    Can Evolutionary Changes Happen Suddenly?
    FEB 24, 2022
    Can Evolutionary Changes Happen Suddenly?
    When we think of evolutionary changes, we tend to consider long stretches of time. But can evolution happen rapidly? The ...
    Written By: Carmen Leitch
    FEB 16, 2022
    Genetics & Genomics
    Protective Genetic Variants Can Shield Carriers From Disease
    FEB 16, 2022
    Protective Genetic Variants Can Shield Carriers From Disease
    The human genome contains mostly the same genes from one person to another, but there are tiny sequence differences in t ...
    Written By: Carmen Leitch
    FEB 03, 2022
    Neuroscience
    Different Autism Risk Genes Lead to Similar Brain Dysfunction
    FEB 03, 2022
    Different Autism Risk Genes Lead to Similar Brain Dysfunction
    Researchers have been trying to determine what causes autism spectrum disorder for many years. Those efforts have reveal ...
    Written By: Carmen Leitch
    FEB 01, 2022
    Coronavirus
    A Genetic Variant Can Protect Against Severe COVID-19
    FEB 01, 2022
    A Genetic Variant Can Protect Against Severe COVID-19
    The wide variation in the severity of COVID cases is probably due to a wide range of factors, including how much virus a ...
    Written By: Carmen Leitch
    JAN 28, 2022
    Genetics & Genomics
    Many Pathogenic Genetic Variants Don't Seem to Carry A Big Risk of Disease
    JAN 28, 2022
    Many Pathogenic Genetic Variants Don't Seem to Carry A Big Risk of Disease
    For many years, a genetic mutation was usually linked to a serious disease. Researchers were able to connect errors in s ...
    Written By: Carmen Leitch
    JAN 25, 2022
    Genetics & Genomics
    Genetic Causes of Cerebral Palsy are Discovered
    JAN 25, 2022
    Genetic Causes of Cerebral Palsy are Discovered
    Cerebral palsy (CP) starts in early childhood, and is a motor impairment that does not progress. CP is caused when child ...
    Written By: Carmen Leitch
    See More
    Variant Classification
    Trending News
    See All

    Webinars

    • APR 19, 2022 7:30 AM PDT
      C.E. CREDITS
      Keynote Presentation: Ultra-Rapid Nanopore Whole Genome Sequencing in a Critical Care Setting
      APR 19, 2022 7:30 AM PDT
      Keynote Presentation: Ultra-Rapid Nanopore Whole Genome Sequencing...
      While early genetic diagnosis can guide critical care management, the turnaround time for whole genome based diagnostic testing is months. Recent programs in neonatal populations have reduce...
      Speaker: John E. Gorzynski, DVM, PhD
      Presented at: Genetics Virtual Week 2022
      JAN 20, 2022 11:00 AM PST
      How to streamline your variant classification workflow with HGMD
      JAN 20, 2022 11:00 AM PST
      How to streamline your variant classification workflow with HGMD
      Date: January 20, 2022 Time: 11:00am (PST), 2:00pm (EST), 8:00pm (CEST) The Human Gene Mutation Database (HGMD) is a one-of-a-kind resource containing data for hundreds of thousands of varia...
      Speaker: Malaina Gaddis, PhD
      Sponsored By: QIAGEN
      OCT 10, 2019 12:00 PM PDT
      Tumor Mutation Burden: Challenges and opportunities of measuring and interpreting tumor mutational burden for patient care
      OCT 10, 2019 12:00 PM PDT
      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 2019Sponsored By: QIAGEN
      MAY 09, 2019 6:00 AM PDT
      AI-Driven Literature Curation for Determining Genomic Variant Pathogenicity
      MAY 09, 2019 6:00 AM PDT
      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 & Genomics 2019
      APR 10, 2019 10:30 AM PDT
      A Sample to Insight Solution for Detection and Classification of Challenging Pathogenic BRCA Mutations
      APR 10, 2019 10:30 AM PDT
      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 2019Sponsored By: QIAGEN
    APR 19, 2022 7:30 AM PDT
    C.E. CREDITS
    Keynote Presentation: Ultra-Rapid Nanopore Whole Genome Sequencing in a Critical Care Setting
    APR 19, 2022 7:30 AM PDT
    Keynote Presentation: Ultra-Rapid Nanopore Whole Genome Sequencing...
    While early genetic diagnosis can guide critical care management, the turnaround time for whole genome based diagnostic testing is months. Recent programs in neonatal populations have reduce...
    Speaker: John E. Gorzynski, DVM, PhD
    Presented at: Genetics Virtual Week 2022
    JAN 20, 2022 11:00 AM PST
    How to streamline your variant classification workflow with HGMD
    JAN 20, 2022 11:00 AM PST
    How to streamline your variant classification workflow with HGMD
    Date: January 20, 2022 Time: 11:00am (PST), 2:00pm (EST), 8:00pm (CEST) The Human Gene Mutation Database (HGMD) is a one-of-a-kind resource containing data for hundreds of thousands of varia...
    Speaker: Malaina Gaddis, PhD
    Sponsored By: QIAGEN
     
     
    OCT 10, 2019 12:00 PM PDT
    Tumor Mutation Burden: Challenges and opportunities of measuring and interpreting tumor mutational burden for patient care
    OCT 10, 2019 12:00 PM PDT
    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 2019Sponsored By: QIAGEN
    MAY 09, 2019 6:00 AM PDT
    AI-Driven Literature Curation for Determining Genomic Variant Pathogenicity
    MAY 09, 2019 6:00 AM PDT
    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 & Genomics 2019
    APR 10, 2019 10:30 AM PDT
    A Sample to Insight Solution for Detection and Classification of Challenging Pathogenic BRCA Mutations
    APR 10, 2019 10:30 AM PDT
    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 2019Sponsored By: QIAGEN
    NOV 14, 2018 12:00 PM PST
    Automated Variant Classification in QIAGEN Clinical Insight Shows Near Perfect Concordance with ClinVar Expert Panel Assessments
    NOV 14, 2018 12:00 PM PST
    Automated Variant Classification in QIAGEN Clinical Insight Shows...
    As the compendium of putatively disease causing variants expands, gathering the most current and accurate information is critical to computing variant classifications. The QIAGEN knowledgebas...
    Speaker: Jennifer Poitras, PhD
    Presented at: Clinical Diagnostics & Research 2018Sponsored By: QIAGEN
    SEP 18, 2018 7:00 AM GMT
    Scaling end-to-end NGS solutions for clinical diagnostics in the cloud
    SEP 18, 2018 7:00 AM GMT
    Scaling end-to-end NGS solutions for clinical diagnostics in the...
    DATE: September 18, 2018TIME:  07:00am PDT, 2:00pm GMT Next Generation Sequencing has become an essential tool in clinical diagnostic laboratories, however this technolo...
    Speaker: Joo Wook Ahn , Andrew Bond , Mattias Jansson , Alessandro Riccombeni, PhD
    Sponsored By: DNAnexus, QIAGEN
    JUN 20, 2018 7:30 AM PDT
    Keynote Presentation: Supporting Precision Medicine and Clinical Research at Scale - Challenges and Opportunities
    JUN 20, 2018 7:30 AM PDT
    Keynote Presentation: Supporting Precision Medicine and Clinical...
    Precision medicine based on molecular profiling is moving from the realm of clinical utility studies towards standard of care. There remain, however, significant technological and implementat...
    Speaker: Niall Lennon, PhD
    Presented at: Precision Medicine 2018
    MAR 06, 2018 8:00 AM PST
    Performance assessment of RNA sequencing and expression arrays for transcriptome analysis in cancer research
    MAR 06, 2018 8:00 AM PST
    Performance assessment of RNA sequencing and expression arrays...
    DATE: March 6, 2018TIME: 08:00am PST, 11:00am EST, 5:00pm CETRNA sequencing and expression arrays are transcriptomics techniques used to quantify transcribed genes and their isoforms. T...
    Speaker: Petr Nazarov, PhD
    Sponsored By: Thermo Fisher Scientific - Applied Biosystems
    See More
    Variant Classification
    Webinars
    See All

    Virtual Events

    • MAY 08, 2019 6:00 AM PDT
      C.E. CREDITS
      Genetics & Genomics 2019
      MAY 08, 2019 6:00 AM PDT
      Genetics & Genomics 2019
      LabRoots and the Genetics and Genomics planning committee are excited to announce they will be hosting the 7th Annual Genetics and Genomics Virtual Event May 8-9, 2019. This distinguished, on...
      APR 10, 2019 6:00 AM PDT
      Molecular Diagnostics 2019
      APR 10, 2019 6:00 AM PDT
      Molecular Diagnostics 2019
      LabRoots and the Molecular Diagnostics planning committee are excited to announce they will be hosting the 4th Annual Molecular Diagnostics Virtual Conference April 10-11, 2019. This premiere...
      NOV 14, 2018 6:00 AM PST
      Clinical Diagnostics & Research 2018
      NOV 14, 2018 6:00 AM PST
      Clinical Diagnostics & Research 2018
      LabRoots invites you to the 9th Annual Clinical Diagnostics & Research free online conference! Clinical diagnostics is an ever-changing field of medicine and research, challenged with com...
      OCT 10, 2018 6:00 AM PDT
      Cancer Research & Oncology 2018
      OCT 10, 2018 6:00 AM PDT
      Cancer Research & Oncology 2018
      The 6th Annual Cancer Research & Oncology Virtual Event will take place October 2018. The free, two-day online event will bring research professionals, scientists, and clinicians from aro...
      JUN 20, 2018 6:00 AM PDT
      Precision Medicine 2018
      JUN 20, 2018 6:00 AM PDT
      Precision Medicine 2018
      LabRoots continues to champions the advancements and discoveries in precision medicine with the 3rd annual Precision Medicine Virtual Conference. Precision Medicine 2018, a two-day event held...
    MAY 08, 2019 6:00 AM PDT
    C.E. CREDITS
    Genetics & Genomics 2019
    MAY 08, 2019 6:00 AM PDT
    Genetics & Genomics 2019
    LabRoots and the Genetics and Genomics planning committee are excited to announce they will be hosting the 7th Annual Genetics and Genomics Virtual Event May 8-9, 2019. This distinguished, on...
     
     
    APR 10, 2019 6:00 AM PDT
    Molecular Diagnostics 2019
    APR 10, 2019 6:00 AM PDT
    Molecular Diagnostics 2019
    LabRoots and the Molecular Diagnostics planning committee are excited to announce they will be hosting the 4th Annual Molecular Diagnostics Virtual Conference April 10-11, 2019. This premiere...
    NOV 14, 2018 6:00 AM PST
    Clinical Diagnostics & Research 2018
    NOV 14, 2018 6:00 AM PST
    Clinical Diagnostics & Research 2018
    LabRoots invites you to the 9th Annual Clinical Diagnostics & Research free online conference! Clinical diagnostics is an ever-changing field of medicine and research, challenged with com...
    OCT 10, 2018 6:00 AM PDT
    Cancer Research & Oncology 2018
    OCT 10, 2018 6:00 AM PDT
    Cancer Research & Oncology 2018
    The 6th Annual Cancer Research & Oncology Virtual Event will take place October 2018. The free, two-day online event will bring research professionals, scientists, and clinicians from aro...
    JUN 20, 2018 6:00 AM PDT
    Precision Medicine 2018
    JUN 20, 2018 6:00 AM PDT
    Precision Medicine 2018
    LabRoots continues to champions the advancements and discoveries in precision medicine with the 3rd annual Precision Medicine Virtual Conference. Precision Medicine 2018, a two-day event held...
    MAY 09, 2018 6:00 AM PDT
    C.E. CREDITS
    Genetics and Genomics 2018
    MAY 09, 2018 6:00 AM PDT
    Genetics and Genomics 2018
    As the foundation of life, genetics provides a base for other sciences to grow from. This is why LabRoots is excited to announce the 6th Annual Genetics and Genomics virtual conference! The f...
    NOV 08, 2017 6:00 AM PST
    Clinical Diagnostics & Research 2017
    NOV 08, 2017 6:00 AM PST
    Clinical Diagnostics & Research 2017
    LabRoots invites you to the 8th annual Clinical Diagnostics & Research free online conference! Clinical diagnostics is an ever-changing field of medicine and research, challenged wit...
    APR 10, 2017 6:00 AM PDT
    Protein and Cell Analysis Education Series
    APR 10, 2017 6:00 AM PDT
    Protein and Cell Analysis Education Series
    The Protein and cell analysis education site is a free-access destination where you can learn more about applications and techniques related to protein gel chemistries, western detection, mas...
    NOV 02, 2016 6:00 AM PDT
    Clinical Diagnostics & Research
    NOV 02, 2016 6:00 AM PDT
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    The 7th annual Clinical Diagnostics & Research conference is now On Demand!  This premiere venue discusses the latest advances in clinical diagnostics, research and medicine. The con...
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