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    Exome Sequencing

    Exome Sequencing: is also known as whole exome sequencing (WES). It is a genomic technique for sequencing all of the protein-coding region of genes in a genome. It consists of two steps: the first step is to select only the subset of DNA that encodes proteins.

    Webinars

    • APR 19, 2022 | 5:30 AM
      C.E. CREDITS
      Advances in High Throughput Proteomics using Next Generation Sequencing as a Readout
      Advances in High Throughput Proteomics using Next Generation Sequencing...
      The combination of the wealth of genomic and phenotypic datasets to the measurement of the circulating proteome enables a snapshot of real-time biology and important results for determining...
      Speaker: Dale Yuzuki, M.A., M.Ed.
      Presented at: Genetics Week Virtual Event Series 2022
      3
      OCT 26, 2021 | 9:00 AM
      Hemoglobinopathy Testing: What are the Key Points a Lab Should Consider?
      Hemoglobinopathy Testing: What are the Key Points a Lab Should...
      Date: October 26, 2021 Time: 9:00am (PDT), 12:00pm (EDT) Capillary Electrophoresis plays an important role in the diagnosis of hemoglobinopathy carriers and patients. The general flow is the...
      Speaker: Dr. Cornelis Harteveld
      Sponsored By: Sebia, Inc.
      19
      APR 14, 2021 | 4:30 PM
      How RT-PCR Testing Allows Labcorp to Perform National SARS-CoV-2 Pandemic Surveillance
      How RT-PCR Testing Allows Labcorp to Perform National SARS-CoV-2...
      When SARS-CoV-2 reached the United States in late January 2020, Labcorp immediately began development of an RT-PCR test to aid in detection and diagnosis of COVID-19 in infected patients. As...
      Speaker: Brian Krueger, PhD
      Presented at: Coronavirus Series
      Sponsored By: PacBio
      24
      NOV 12, 2020 | 3:00 PM
      Translating insights into better outcomes: The new QIAseq Human Exome integrated solution
      Translating insights into better outcomes: The new QIAseq Human...
      What if your lab could perform exome sequencing with the same sensitivity and efficiency of targeted sequencing? The new integrated QIAseq Human Exome TR Insights solution from QIAGEN delive...
      Speaker: Brian Dugan, M.S. , Rupert Yip, PhD
      Presented at: Clinical Diagnostics & Research Virtual Event Series 2020
      Sponsored By: QIAGEN
      1
      JUL 02, 2020 | 1:30 PM
      Molecular Diagnosis of Genetic Diseases using CE in an era of different technologies
      Molecular Diagnosis of Genetic Diseases using CE in an era of...
      Genetic diseases are known occur due to various types of mutations in the human genome. The molecular assays to diagnose these diseases have been developed based on the type of mutation comm...
      Speaker: Ashwin Dalal, MD
      Presented at: APJ Virtual Genetic Solutions Tour 2020
      3
      MAY 20, 2020 | 11:15 AM
      Spatial Landscape of the Immune Microenvironment in Metastatic Prostate Cancer using GeoMxâ„¢ Digital Spatial Profiler
      Spatial Landscape of the Immune Microenvironment in Metastatic...
      Metastatic prostate cancer (mPC) is a phenotypically diverse disease with poor responses to immune based therapeutics. Development of immunotherapeutic strategies for mPC is hampered by the...
      Speaker: Peter Nelson, MD
      Presented at: Advancing Science - A Virtual Oncology Conference
      1
      MAY 14, 2020 | 2:40 PM
      Oncomine Precision Assay on Ion Torrent Genexus System for liquid biopsy sample
      Oncomine Precision Assay on Ion Torrent Genexus System for liquid...
      Molecular profiling is key in precision oncology research and whilst the tissue testing has become a routine, liquid biopsy might provide a non-invasive alternative when tissue biopsy is ina...
      Speaker: Siew-Kee (Amanda) Low, PhD
      Presented at: OncomineWorld 2022: A Virtual NGS Education Meeting
      8
      MAY 14, 2020 | 2:40 PM
      Oncomine Precision Assay on Ion Torrent Genexus System for liquid biopsy sample
      Oncomine Precision Assay on Ion Torrent Genexus System for liquid...
      The development of molecular targeted therapy is one of the breakthroughs in oncology field. Molecular profiling of the tumor becomes mandatory in the routine clinical practice to select the...
      Speaker: Siew-Kee (Amanda) Low, PhD
      Presented at: OncomineWorld Autumn: A virtual NGS education meeting
      1
      MAY 14, 2020 | 1:25 PM
      Test Validation in Medical Laboratories: the Australian Perspective
      Test Validation in Medical Laboratories: the Australian Perspective
      My laboratory at the Garvan Institute operates an ISO 15189 and NATA accredited laboratory for testing of patients using whole genome and whole exome sequencing, as well as gene panel testin...
      Speaker: Luke Hesson, PhD, FFScRCPA
      Presented at: OncomineWorld 2022: A Virtual NGS Education Meeting
      7
      MAY 14, 2020 | 1:25 PM
      Test Validation in Medical Laboratories: the Australian Perspective
      Test Validation in Medical Laboratories: the Australian Perspective
      My laboratory at the Garvan Institute operates an ISO 15189 and NATA accredited laboratory for testing of patients using whole genome and whole exome sequencing, as well as gene panel testin...
      Speaker: Luke Hesson, PhD, FFScRCPA
      Presented at: OncomineWorld Autumn: A virtual NGS education meeting
      5
      APR 24, 2020 | 8:00 AM
      Isolating Ultra-high Molecular Weight (UHMW) DNA for Genome-wide Structural Variant Analysis
      Isolating Ultra-high Molecular Weight (UHMW) DNA for Genome-wide...
      DATE: April 24, 2020 TIME: 8:00am PT, 11:00am ET, 5:00pm CET...
      Speaker: Ben Clifford, PhD , Sven Bocklandt, PhD
      Sponsored By: Bionano
      11
      APR 22, 2020 | 12:00 AM
      Rapid Diagnosis of Complex Rare Disease Cases Using Exome Sequencing
      Rapid Diagnosis of Complex Rare Disease Cases Using Exome Sequencing
      Achieving a diagnosis in rare disease patients can be challenging for even the most experienced clinician or scientist, creating a barrier to delivering truly personalised care. An exome seq...
      Speaker: Louisa Ive, MSc HCPC
      Presented at: Genetics Week Virtual Event Series 2020
      2
      APR 22, 2020 | 12:00 AM
      Aggregating and Sharing Clinical Evidence to Improve the Diagnosis of Rare Diseases
      Aggregating and Sharing Clinical Evidence to Improve the Diagnosis...
      The introduction of improved, more cost efficient target capture technologies has accelerated the adoption of Whole Exome Sequencing (WES) in clinical diagnostics. The ability to provide mor...
      Speaker: Ben Liesfeld, PhD
      Presented at: Genetics Week Virtual Event Series 2020
      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
      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 | 12:00 PM
      NGS Target Enrichment Solutions to Drive Discovery in Precision Medicine Research
      NGS Target Enrichment Solutions to Drive Discovery in Precision...
      The long term goal of our collaborative effort is to bring precision medicine to the practice of veterinary oncology, using the wealth of genomic data gathered in human cancers as a roadmap....
      Speaker: Duane Hassane, PhD , Guannan Wang, PhD
      Presented at: Precision Medicine Virtual Event Series 2019
      Sponsored By: Twist Bioscience
      2
      JUN 20, 2019 | 10:30 AM
      The Massively Parallel Sequencing (MPS) Revolution
      The Massively Parallel Sequencing (MPS) Revolution
      The development of automated DNA sequencers utilizing Sanger sequencing and capillary electrophoresis made it possible to develop the first draft sequences of the human genome. The cost of do...
      Speaker: David Smith, PhD
      Presented at: Precision Medicine Virtual Event Series 2019
      1
      NOV 15, 2018 | 9:00 AM
      Best Practice Strategies and Tools for Scaling Clinical Bioinformatics
      Best Practice Strategies and Tools for Scaling Clinical Bioinformatics
      Clinical testing with next generation sequencing requires a complex bioinformatics pipeline to process raw DNA sequence into  interpretable variants for medical reporting. With sequencin...
      Speaker: Elaine Gee, PhD
      Presented at: Clinical Diagnostics & Research Virtual Event Series 2018
      1
      OCT 23, 2018 | 10:00 AM
      Pediatric Cancer Genomics: Accessing Data, Tools and Visualizations in St. Jude Cloud
      Pediatric Cancer Genomics: Accessing Data, Tools and Visualizations...
      DATE: October 23, 2018TIME: 10:00am PDT, 1:00pm EDT Next-generation genomic sequencing is transforming what is known about pediatric cancer and how we treat patients. But eve...
      Speaker: Scott Newman, PhD , Clay McLeod
      Sponsored By: DNAnexus
      5
      SEP 18, 2018 | 7:00 AM
      Scaling end-to-end NGS solutions for clinical diagnostics in the cloud
      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
      6
      AUG 09, 2018 | 8:00 AM
      Exon-level array: Bridging the gap between chromosomal microarray and next-gen sequencing
      Exon-level array: Bridging the gap between chromosomal microarray...
      DATE:  August 9, 2018TIME:  8:00am PDT, 11:00am EDT Current exon-level arrays and NGS techniques for CNV detection are plagued with a high number of false-positive...
      Speaker: Nicole de Leeuw, PhD , Kristina Cusmano-Ozog, MD
      Sponsored By: Thermo Fisher Scientific - Applied Biosystems
      9
      JUN 21, 2018 | 12:00 PM
      Whole Genome Sequencing As A Valuable Clinical Tool For the Management of Cancer Patients
      Whole Genome Sequencing As A Valuable Clinical Tool For the Management...
      Advances in DNA sequencing, based upon massively parallel sequencing, has resulted in dramatic advances in DNA sequence output in the past few years. It is now possible to generate terrabases...
      Speaker: David Smith, PhD
      Presented at: Precision Medicine Virtual Event Series 2018
      1
      JUN 20, 2018 | 7:30 AM
      Keynote Presentation: Supporting Precision Medicine and Clinical Research at Scale - Challenges and Opportunities
      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 Virtual Event Series 2018
      1
      APR 12, 2018 | 9:00 AM
      QIAseq Digital Sequencing and Biomedical Genomics Workbench: Application to Liquid Biopsy in Bladder Cancer Research
      QIAseq Digital Sequencing and Biomedical Genomics Workbench: Application...
      This presentation illustrates the features of QIAGEN sample to insight approach, and how it combines a powerful chemistry based on unique molecular indexes (UMIs) and a UMI-aware bioinformati...
      Speaker: Francesco Lescai, PhD, EDBT
      Presented at: Molecular Diagnostics Virtual Event Series 2018
      Sponsored By: QIAGEN Molecular Diagnostics
      1
    APR 19, 2022 | 5:30 AM
    C.E. CREDITS
    Advances in High Throughput Proteomics using Next Generation Sequencing as a Readout
    Advances in High Throughput Proteomics using Next Generation Sequencing...
    The combination of the wealth of genomic and phenotypic datasets to the measurement of the circulating proteome enables a snapshot of real-time biology and important results for determining...
    Speaker: Dale Yuzuki, M.A., M.Ed.
    Presented at: Genetics Week Virtual Event Series 2022
    3
    OCT 26, 2021 | 9:00 AM
    Hemoglobinopathy Testing: What are the Key Points a Lab Should Consider?
    Hemoglobinopathy Testing: What are the Key Points a Lab Should...
    Date: October 26, 2021 Time: 9:00am (PDT), 12:00pm (EDT) Capillary Electrophoresis plays an important role in the diagnosis of hemoglobinopathy carriers and patients. The general flow is the...
    Speaker: Dr. Cornelis Harteveld
    Sponsored By: Sebia, Inc.
    19
    APR 14, 2021 | 4:30 PM
    How RT-PCR Testing Allows Labcorp to Perform National SARS-CoV-2 Pandemic Surveillance
    How RT-PCR Testing Allows Labcorp to Perform National SARS-CoV-2...
    When SARS-CoV-2 reached the United States in late January 2020, Labcorp immediately began development of an RT-PCR test to aid in detection and diagnosis of COVID-19 in infected patients. As...
    Speaker: Brian Krueger, PhD
    Presented at: Coronavirus Series
    Sponsored By: PacBio
    24
    NOV 12, 2020 | 3:00 PM
    Translating insights into better outcomes: The new QIAseq Human Exome integrated solution
    Translating insights into better outcomes: The new QIAseq Human...
    What if your lab could perform exome sequencing with the same sensitivity and efficiency of targeted sequencing? The new integrated QIAseq Human Exome TR Insights solution from QIAGEN delive...
    Speaker: Brian Dugan, M.S. , Rupert Yip, PhD
    Presented at: Clinical Diagnostics & Research Virtual Event Series 2020
    Sponsored By: QIAGEN
    1
    JUL 02, 2020 | 1:30 PM
    Molecular Diagnosis of Genetic Diseases using CE in an era of different technologies
    Molecular Diagnosis of Genetic Diseases using CE in an era of...
    Genetic diseases are known occur due to various types of mutations in the human genome. The molecular assays to diagnose these diseases have been developed based on the type of mutation comm...
    Speaker: Ashwin Dalal, MD
    Presented at: APJ Virtual Genetic Solutions Tour 2020
    3
     
     
  • MAY 20, 2020 | 11:15 AM
    Spatial Landscape of the Immune Microenvironment in Metastatic Prostate Cancer using GeoMxâ„¢ Digital Spatial Profiler
    Spatial Landscape of the Immune Microenvironment in Metastatic...
    Metastatic prostate cancer (mPC) is a phenotypically diverse disease with poor responses to immune based therapeutics. Development of immunotherapeutic strategies for mPC is hampered by the...
    Speaker: Peter Nelson, MD
    Presented at: Advancing Science - A Virtual Oncology Conference
    1
    MAY 14, 2020 | 2:40 PM
    Oncomine Precision Assay on Ion Torrent Genexus System for liquid biopsy sample
    Oncomine Precision Assay on Ion Torrent Genexus System for liquid...
    Molecular profiling is key in precision oncology research and whilst the tissue testing has become a routine, liquid biopsy might provide a non-invasive alternative when tissue biopsy is ina...
    Speaker: Siew-Kee (Amanda) Low, PhD
    Presented at: OncomineWorld 2022: A Virtual NGS Education Meeting
    8
    MAY 14, 2020 | 2:40 PM
    Oncomine Precision Assay on Ion Torrent Genexus System for liquid biopsy sample
    Oncomine Precision Assay on Ion Torrent Genexus System for liquid...
    The development of molecular targeted therapy is one of the breakthroughs in oncology field. Molecular profiling of the tumor becomes mandatory in the routine clinical practice to select the...
    Speaker: Siew-Kee (Amanda) Low, PhD
    Presented at: OncomineWorld Autumn: A virtual NGS education meeting
    1
    MAY 14, 2020 | 1:25 PM
    Test Validation in Medical Laboratories: the Australian Perspective
    Test Validation in Medical Laboratories: the Australian Perspective
    My laboratory at the Garvan Institute operates an ISO 15189 and NATA accredited laboratory for testing of patients using whole genome and whole exome sequencing, as well as gene panel testin...
    Speaker: Luke Hesson, PhD, FFScRCPA
    Presented at: OncomineWorld 2022: A Virtual NGS Education Meeting
    7
    MAY 14, 2020 | 1:25 PM
    Test Validation in Medical Laboratories: the Australian Perspective
    Test Validation in Medical Laboratories: the Australian Perspective
    My laboratory at the Garvan Institute operates an ISO 15189 and NATA accredited laboratory for testing of patients using whole genome and whole exome sequencing, as well as gene panel testin...
    Speaker: Luke Hesson, PhD, FFScRCPA
    Presented at: OncomineWorld Autumn: A virtual NGS education meeting
    5
     
     
  • APR 24, 2020 | 8:00 AM
    Isolating Ultra-high Molecular Weight (UHMW) DNA for Genome-wide Structural Variant Analysis
    Isolating Ultra-high Molecular Weight (UHMW) DNA for Genome-wide...
    DATE: April 24, 2020 TIME: 8:00am PT, 11:00am ET, 5:00pm CET...
    Speaker: Ben Clifford, PhD , Sven Bocklandt, PhD
    Sponsored By: Bionano
    11
    APR 22, 2020 | 12:00 AM
    Rapid Diagnosis of Complex Rare Disease Cases Using Exome Sequencing
    Rapid Diagnosis of Complex Rare Disease Cases Using Exome Sequencing
    Achieving a diagnosis in rare disease patients can be challenging for even the most experienced clinician or scientist, creating a barrier to delivering truly personalised care. An exome seq...
    Speaker: Louisa Ive, MSc HCPC
    Presented at: Genetics Week Virtual Event Series 2020
    2
    APR 22, 2020 | 12:00 AM
    Aggregating and Sharing Clinical Evidence to Improve the Diagnosis of Rare Diseases
    Aggregating and Sharing Clinical Evidence to Improve the Diagnosis...
    The introduction of improved, more cost efficient target capture technologies has accelerated the adoption of Whole Exome Sequencing (WES) in clinical diagnostics. The ability to provide mor...
    Speaker: Ben Liesfeld, PhD
    Presented at: Genetics Week Virtual Event Series 2020
    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
    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 | 12:00 PM
    NGS Target Enrichment Solutions to Drive Discovery in Precision Medicine Research
    NGS Target Enrichment Solutions to Drive Discovery in Precision...
    The long term goal of our collaborative effort is to bring precision medicine to the practice of veterinary oncology, using the wealth of genomic data gathered in human cancers as a roadmap....
    Speaker: Duane Hassane, PhD , Guannan Wang, PhD
    Presented at: Precision Medicine Virtual Event Series 2019
    Sponsored By: Twist Bioscience
    2
    JUN 20, 2019 | 10:30 AM
    The Massively Parallel Sequencing (MPS) Revolution
    The Massively Parallel Sequencing (MPS) Revolution
    The development of automated DNA sequencers utilizing Sanger sequencing and capillary electrophoresis made it possible to develop the first draft sequences of the human genome. The cost of do...
    Speaker: David Smith, PhD
    Presented at: Precision Medicine Virtual Event Series 2019
    1
    NOV 15, 2018 | 9:00 AM
    Best Practice Strategies and Tools for Scaling Clinical Bioinformatics
    Best Practice Strategies and Tools for Scaling Clinical Bioinformatics
    Clinical testing with next generation sequencing requires a complex bioinformatics pipeline to process raw DNA sequence into  interpretable variants for medical reporting. With sequencin...
    Speaker: Elaine Gee, PhD
    Presented at: Clinical Diagnostics & Research Virtual Event Series 2018
    1
    OCT 23, 2018 | 10:00 AM
    Pediatric Cancer Genomics: Accessing Data, Tools and Visualizations in St. Jude Cloud
    Pediatric Cancer Genomics: Accessing Data, Tools and Visualizations...
    DATE: October 23, 2018TIME: 10:00am PDT, 1:00pm EDT Next-generation genomic sequencing is transforming what is known about pediatric cancer and how we treat patients. But eve...
    Speaker: Scott Newman, PhD , Clay McLeod
    Sponsored By: DNAnexus
    5
    SEP 18, 2018 | 7:00 AM
    Scaling end-to-end NGS solutions for clinical diagnostics in the cloud
    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
    6
     
     
  • AUG 09, 2018 | 8:00 AM
    Exon-level array: Bridging the gap between chromosomal microarray and next-gen sequencing
    Exon-level array: Bridging the gap between chromosomal microarray...
    DATE:  August 9, 2018TIME:  8:00am PDT, 11:00am EDT Current exon-level arrays and NGS techniques for CNV detection are plagued with a high number of false-positive...
    Speaker: Nicole de Leeuw, PhD , Kristina Cusmano-Ozog, MD
    Sponsored By: Thermo Fisher Scientific - Applied Biosystems
    9
    JUN 21, 2018 | 12:00 PM
    Whole Genome Sequencing As A Valuable Clinical Tool For the Management of Cancer Patients
    Whole Genome Sequencing As A Valuable Clinical Tool For the Management...
    Advances in DNA sequencing, based upon massively parallel sequencing, has resulted in dramatic advances in DNA sequence output in the past few years. It is now possible to generate terrabases...
    Speaker: David Smith, PhD
    Presented at: Precision Medicine Virtual Event Series 2018
    1
    JUN 20, 2018 | 7:30 AM
    Keynote Presentation: Supporting Precision Medicine and Clinical Research at Scale - Challenges and Opportunities
    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 Virtual Event Series 2018
    1
    APR 12, 2018 | 9:00 AM
    QIAseq Digital Sequencing and Biomedical Genomics Workbench: Application to Liquid Biopsy in Bladder Cancer Research
    QIAseq Digital Sequencing and Biomedical Genomics Workbench: Application...
    This presentation illustrates the features of QIAGEN sample to insight approach, and how it combines a powerful chemistry based on unique molecular indexes (UMIs) and a UMI-aware bioinformati...
    Speaker: Francesco Lescai, PhD, EDBT
    Presented at: Molecular Diagnostics Virtual Event Series 2018
    Sponsored By: QIAGEN Molecular Diagnostics
    1
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