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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

    • OCT 12, 2017 | 12:00 PM
      Comprehensive genomic and transcriptomic analysis of acral melanoma: A path towards therapeutic development
      Comprehensive genomic and transcriptomic analysis of acral melanoma:...
      Acral lentiginous melanoma (ALM) is a rare sun-shielded melanoma subtype associated with worse survival than cutaneous melanoma (CM), a more common form of skin cancer linked to exposure to u...
      Speaker: Winnie Liang, PhD
      Presented at: Cancer Research & Oncology Week Virtual Event Series 2017
      1
      SEP 19, 2017 | 10:30 AM
      WEBINAR: Structure and Function of Epigenetic Regulators in Human Disease
      WEBINAR: Structure and Function of Epigenetic Regulators in Human...
      DATE: September 19, 2017TIME: 10:30am PDT/ 1:30pm EDT/ 7:30pm CESTPart 1 – Cigall Kadoch, Ph.D. (30 min.)Exome- and genome-wide sequencing studies in human cancer have...
      Speaker: Cigall Kadoch, PhD , Chris Fry, PhD
      Sponsored By: Cell Signaling Technology
      9 1
      JUN 27, 2017 | 8:00 AM
      WEBINAR: Investigating the Genetics of Human Macrophage Response and Resistance to Mycobacterium tuberculosis with AmpliSeqâ„¢ Gene Expression Panels
      WEBINAR: Investigating the Genetics of Human Macrophage Response...
      DATE: June 27, 2017TIME: 8:00am PT, 11:00am ETThe purpose of this study is to identify genetic variants that influence cellular responses, and patterns of M.tb infection and growth in h...
      Speaker: Audrey Papp, B.S., MT ASCP(H), CLSp MB
      Sponsored By: Thermo Fisher Scientific - Ion Torrent
      3 1
      MAY 25, 2017 | 6:00 AM
      In-House Technology Development for Next Gen Sequencing, Tissue Handling and beyond, at the BC Cancer Agency
      In-House Technology Development for Next Gen Sequencing, Tissue...
      The Instrumentation Group at the BC Cancer Agency’s Genome Sciences Centre (GSC) is unusual in having an engineering group and extensive prototyping facilities embedded in a biomedical...
      Speaker: Robin Coope
      Presented at: Lab Automation Virtual Event Series 2017
      2
      MAY 24, 2017 | 9:00 AM
      Strand NGS Server: or, why clinical bioinformaticians love Strand
      Strand NGS Server: or, why clinical bioinformaticians love Strand
      I’ll talk about Strand NGS Server, our server-client NGS offering. Strand NGS server is geared towards small-to-medium scale clinical labs with high-volume sequencing throughputs and lo...
      Speaker: Radhakrishna Bettadapura (RK), PhD
      Presented at: Lab Automation Virtual Event Series 2017
      Sponsored By: Strand
      3
      MAY 11, 2017 | 1:30 PM
      Pandora's Genome: Making the Revolution Routine
      Pandora's Genome: Making the Revolution Routine
      Much has been said about the promise of Next Generation Sequencing (NGS) to revolutionise diagnosis of rare diseases, and there are many examples of success in this arena. However, the majori...
      Speaker: Shane McKee, PhD
      Presented at: Genetics and Genomics Virtual Event Series 2017
      2
      MAY 11, 2017 | 12:00 PM
      Impact of Next-Generation Sequencing on Precision Medicine
      Impact of Next-Generation Sequencing on Precision Medicine
      It was 10 years ago that Illumina first launched the Genome Analyzer II, the world’s first high-throughput sequencing platform.  That system could produce one billion bps of sequen...
      Speaker: Gary Schroth,PhD
      Presented at: Genetics and Genomics Virtual Event Series 2017
      2
      MAY 10, 2017 | 12:00 PM
      C.E. CREDITS
      Not all variants are created equal: what went wrong in the prediction of functional effects of exomic variation
      Not all variants are created equal: what went wrong in the prediction...
      Many computational approaches exist for predicting the effects of amino acid substitutions from protein sequence. These are often (incorrectly) used for judging disease predisposition from in...
      Speaker: Yana Bromberg, PhD
      Presented at: Genetics and Genomics Virtual Event Series 2017
      1
      APR 18, 2017 | 7:30 AM
      Don't hesitate. Learn how to step up your library prep with new Biomek i-Series Genomic Sample Prep Workstations.
      Don't hesitate. Learn how to step up your library prep with new...
      DATE: April 18, 2017TIME: 7:30am PT, 10:30am ETLabs large and small that conduct genomic studies are looking for ways to vastly improve NGS sample prep, especially from challenging FFPE...
      Speaker: Zach Smith, MS
      Presented at: Beckman Coulter Life Sciences Virtual Trade Show
      Sponsored By: Beckman Coulter Life Sciences
      8
      FEB 07, 2017 | 10:00 AM
      WEBINAR: Beyond 100,000: Insights & Lessons from Large-Scale Sequencing in the Cloud
      WEBINAR: Beyond 100,000: Insights & Lessons from Large-Scale Sequencing...
      DATE: February 7, 2017TIME: 10:00am PT, 1:00pm ETIn this webinar, Jeffrey G. Reid, PhD, Executive Director and Head of Genome Informatics at Regeneron Pharmaceuticals, will sh...
      Speaker: Jeffrey Reid, PhD
      Sponsored By: DNAnexus
      13 3
      NOV 16, 2016 | 8:00 AM
      The important role of lncRNAs in breast cancer
      The important role of lncRNAs in breast cancer
      DATE:  November 16, 2016 TIME:  8:00am PT, 11:00am ET  Breast cancer is the most commonly diagnosed cancer in women and is the second leading cause of cancer death among wo...
      Speaker: Rebecca DeVaux, PhD , Alfredo Hidalgo-Miranda, PhD
      Sponsored By: Affymetrix, Affymetrix
      8
      NOV 02, 2016 | 6:00 AM
      Fast and easy identification of disease causing variants in hereditary diseases using patient phenotype information and testing for different modes of inheritance
      Fast and easy identification of disease causing variants in hereditary...
      Whole genome and exome sequencing is being widely used to identify disease-causing variants in patients with hereditary and rare diseases. Discovering the true disease-causing variants often...
      Speaker: Anika Joecker, PhD
      Presented at: Clinical Diagnostics & Research Virtual Event Series 2016
      3
      OCT 05, 2016 | 6:00 AM
      Unique molecular indices (UMI) and their application in detecting novel gene fusions and gene expression and genetic variation
      Unique molecular indices (UMI) and their application in detecting...
      Tumor heterogeneity has been known for a while but quantifying heterogeneity is still a challenge.  NGS is the method of choice in the analysis of tumor heterogeneity, however, there are...
      Speaker: Samuel Rulli, PhD
      Presented at: Cancer Research & Oncology Week Virtual Event Series 2016
      3
      MAY 12, 2016 | 3:00 PM
      Using big data to interpret genomes for diagnostics, therapeutics, and precision medicine
      Using big data to interpret genomes for diagnostics, therapeutics,...
      Millions of individuals have been sequenced or genotyped and linked with medical records, providing an exciting opportunity for therapeutic target discovery. My lab has been using a resilienc...
      Speaker: Rong Chen, PhD
      Presented at: Genetics and Genomics Virtual Event Series 2016
      2
      MAY 12, 2016 | 1:30 PM
      The benefits and burdens of assaying matched normal tissue when sequencing cancer genomes
      The benefits and burdens of assaying matched normal tissue when...
      Targeted sequencing assays are increasingly used to identify tumor mutations that guide therapeutic decisions. Interpretation of a cancer variant’s origin and therapeutic impact poses a...
      Speaker: Elena Helman, PhD
      Presented at: Genetics and Genomics Virtual Event Series 2016
      2
      MAY 11, 2016 | 3:00 PM
      Genomics in the Clinic - Medical Ethics and Policy
      Genomics in the Clinic - Medical Ethics and Policy
      It is estimated that by the end of this year more than 1 million people worldwide will have had their genome sequenced. Genomic sequencing is increasingly being integrated into clinical care,...
      Speaker: Amy McGuire, JD, PhD
      Presented at: Genetics and Genomics Virtual Event Series 2016
      4
      MAY 11, 2016 | 1:30 PM
      C.E. CREDITS
      Microfluidic Single Cell Exome-seq and RNA-seq analysis of Tumor Composition
      Microfluidic Single Cell Exome-seq and RNA-seq analysis of Tumor...
      Human breast tumors have been shown to exhibit extensive inter- and intra-tumor heterogeneity. While recent advances in genomic technologies have allowed us to deconvolute this heterogeneity,...
      Speaker: Ioannis (Jiannis) Ragoussis, PhD
      Presented at: Genetics and Genomics Virtual Event Series 2016
      3
      MAY 11, 2016 | 1:30 PM
      Pediatric genetics - Applications of NGS in the Clinic
      Pediatric genetics - Applications of NGS in the Clinic
      The rapid implementation of next generation sequencing is changing how genetics and genomics are applied in a clinical setting. However, the quickly evolving technology can be challenging to...
      Speaker: Emily Farrow, PhD, CGC
      Presented at: Genetics and Genomics Virtual Event Series 2016
      3
      MAY 11, 2016 | 12:00 PM
      Assembly and Analysis of Non-model Organism Transcriptomes Using DNASTAR Software
      Assembly and Analysis of Non-model Organism Transcriptomes Using...
      DNASTAR offers an integrated suite of software for accurate assembly and analysis of sequence data from all major next-generation sequencing platforms supporting key workflows including de no...
      Speaker: Matthew Keyser, MS
      Presented at: Genetics and Genomics Virtual Event Series 2016
      2
      MAY 11, 2016 | 6:00 AM
      Natural Human Gene Knockouts and the Discovery of New Drug Targets
      Natural Human Gene Knockouts and the Discovery of New Drug Targets
      It has been estimated that every human being carries ~20 rare “natural human gene knockouts”-DNA variants in protein-coding regions of the genome that partially or completely inac...
      Speaker: Frederick Dewey, MD
      Presented at: Genetics and Genomics Virtual Event Series 2016
      4
      APR 07, 2016 | 7:30 AM
      The Personalis ACE CancerPlus Test: A Comprehensive DNA & RNA Sequencing Solution for Guiding Clinical Care & Improving Patient Outcomes
      The Personalis ACE CancerPlus Test: A Comprehensive DNA & RNA...
      Oncologists and pathologists are increasingly utilizing information on genomic alterations in tumors to help guide patient care and treatment. Personalis, Inc., a genomic sequencing and inter...
      Speaker: Heather Wetzel, MS, LCGC
      Presented at: Molecular Diagnostics Virtual Event Series 2016
      2
      APR 06, 2016 | 1:30 PM
      Validation and Implementation of Whole-Exome Sequencing to Guide Precision Cancer Care
      Validation and Implementation of Whole-Exome Sequencing to Guide...
      Cancer remains the second leading cause of death in the United States.  Most tumors arise from a myriad of genetic changes that dysregulate cell growth and prompt survival.  Ident...
      Speaker: Hanna Rennert, PhD, F.A.C.M.G
      Presented at: Molecular Diagnostics Virtual Event Series 2016
      4
      MAR 29, 2016 | 8:00 AM
      WEBINAR: Applications of Targeted Gene Panels in Inherited Disease Research
      WEBINAR: Applications of Targeted Gene Panels in Inherited Disease...
      Recent advances in next-generation sequencing (NGS) have helped to accelerate the pace of discovery in the field of genetic disease research and testing. The ability to analyze multiple genes...
      Speaker: Brian Meyer, PhD , Robert Sebra, PhD
      Sponsored By: Thermo Fisher Scientific - Ion Torrent, Thermo Fisher Scientific - Ion Torrent
      11 3
      MAR 22, 2016 | 9:30 AM
      Tales from the Clinic
      Tales from the Clinic
      Medical genetics is a specialty of medicine that encompasses patients at all ages (prenatal, pediatric, adult), as well as all organ systems. As the genetic causes of more diseases have been ...
      Speaker: Fuki Hisama, MD, FACMG, FAAN , Eric Konnick, MD, MS , Laura Amendola, MS CGC
      Presented at: GENETICS IN YOUR CLINIC: WHAT YOU CAN AND SHOULD DO NOW
      3
    OCT 12, 2017 | 12:00 PM
    Comprehensive genomic and transcriptomic analysis of acral melanoma: A path towards therapeutic development
    Comprehensive genomic and transcriptomic analysis of acral melanoma:...
    Acral lentiginous melanoma (ALM) is a rare sun-shielded melanoma subtype associated with worse survival than cutaneous melanoma (CM), a more common form of skin cancer linked to exposure to u...
    Speaker: Winnie Liang, PhD
    Presented at: Cancer Research & Oncology Week Virtual Event Series 2017
    1
    SEP 19, 2017 | 10:30 AM
    WEBINAR: Structure and Function of Epigenetic Regulators in Human Disease
    WEBINAR: Structure and Function of Epigenetic Regulators in Human...
    DATE: September 19, 2017TIME: 10:30am PDT/ 1:30pm EDT/ 7:30pm CESTPart 1 – Cigall Kadoch, Ph.D. (30 min.)Exome- and genome-wide sequencing studies in human cancer have...
    Speaker: Cigall Kadoch, PhD , Chris Fry, PhD
    Sponsored By: Cell Signaling Technology
    9 1
    JUN 27, 2017 | 8:00 AM
    WEBINAR: Investigating the Genetics of Human Macrophage Response and Resistance to Mycobacterium tuberculosis with AmpliSeqâ„¢ Gene Expression Panels
    WEBINAR: Investigating the Genetics of Human Macrophage Response...
    DATE: June 27, 2017TIME: 8:00am PT, 11:00am ETThe purpose of this study is to identify genetic variants that influence cellular responses, and patterns of M.tb infection and growth in h...
    Speaker: Audrey Papp, B.S., MT ASCP(H), CLSp MB
    Sponsored By: Thermo Fisher Scientific - Ion Torrent
    3 1
    MAY 25, 2017 | 6:00 AM
    In-House Technology Development for Next Gen Sequencing, Tissue Handling and beyond, at the BC Cancer Agency
    In-House Technology Development for Next Gen Sequencing, Tissue...
    The Instrumentation Group at the BC Cancer Agency’s Genome Sciences Centre (GSC) is unusual in having an engineering group and extensive prototyping facilities embedded in a biomedical...
    Speaker: Robin Coope
    Presented at: Lab Automation Virtual Event Series 2017
    2
    MAY 24, 2017 | 9:00 AM
    Strand NGS Server: or, why clinical bioinformaticians love Strand
    Strand NGS Server: or, why clinical bioinformaticians love Strand
    I’ll talk about Strand NGS Server, our server-client NGS offering. Strand NGS server is geared towards small-to-medium scale clinical labs with high-volume sequencing throughputs and lo...
    Speaker: Radhakrishna Bettadapura (RK), PhD
    Presented at: Lab Automation Virtual Event Series 2017
    Sponsored By: Strand
    3
     
     
  • MAY 11, 2017 | 1:30 PM
    Pandora's Genome: Making the Revolution Routine
    Pandora's Genome: Making the Revolution Routine
    Much has been said about the promise of Next Generation Sequencing (NGS) to revolutionise diagnosis of rare diseases, and there are many examples of success in this arena. However, the majori...
    Speaker: Shane McKee, PhD
    Presented at: Genetics and Genomics Virtual Event Series 2017
    2
    MAY 11, 2017 | 12:00 PM
    Impact of Next-Generation Sequencing on Precision Medicine
    Impact of Next-Generation Sequencing on Precision Medicine
    It was 10 years ago that Illumina first launched the Genome Analyzer II, the world’s first high-throughput sequencing platform.  That system could produce one billion bps of sequen...
    Speaker: Gary Schroth,PhD
    Presented at: Genetics and Genomics Virtual Event Series 2017
    2
    MAY 10, 2017 | 12:00 PM
    C.E. CREDITS
    Not all variants are created equal: what went wrong in the prediction of functional effects of exomic variation
    Not all variants are created equal: what went wrong in the prediction...
    Many computational approaches exist for predicting the effects of amino acid substitutions from protein sequence. These are often (incorrectly) used for judging disease predisposition from in...
    Speaker: Yana Bromberg, PhD
    Presented at: Genetics and Genomics Virtual Event Series 2017
    1
    APR 18, 2017 | 7:30 AM
    Don't hesitate. Learn how to step up your library prep with new Biomek i-Series Genomic Sample Prep Workstations.
    Don't hesitate. Learn how to step up your library prep with new...
    DATE: April 18, 2017TIME: 7:30am PT, 10:30am ETLabs large and small that conduct genomic studies are looking for ways to vastly improve NGS sample prep, especially from challenging FFPE...
    Speaker: Zach Smith, MS
    Presented at: Beckman Coulter Life Sciences Virtual Trade Show
    Sponsored By: Beckman Coulter Life Sciences
    8
    FEB 07, 2017 | 10:00 AM
    WEBINAR: Beyond 100,000: Insights & Lessons from Large-Scale Sequencing in the Cloud
    WEBINAR: Beyond 100,000: Insights & Lessons from Large-Scale Sequencing...
    DATE: February 7, 2017TIME: 10:00am PT, 1:00pm ETIn this webinar, Jeffrey G. Reid, PhD, Executive Director and Head of Genome Informatics at Regeneron Pharmaceuticals, will sh...
    Speaker: Jeffrey Reid, PhD
    Sponsored By: DNAnexus
    13 3
     
     
  • NOV 16, 2016 | 8:00 AM
    The important role of lncRNAs in breast cancer
    The important role of lncRNAs in breast cancer
    DATE:  November 16, 2016 TIME:  8:00am PT, 11:00am ET  Breast cancer is the most commonly diagnosed cancer in women and is the second leading cause of cancer death among wo...
    Speaker: Rebecca DeVaux, PhD , Alfredo Hidalgo-Miranda, PhD
    Sponsored By: Affymetrix, Affymetrix
    8
    NOV 02, 2016 | 6:00 AM
    Fast and easy identification of disease causing variants in hereditary diseases using patient phenotype information and testing for different modes of inheritance
    Fast and easy identification of disease causing variants in hereditary...
    Whole genome and exome sequencing is being widely used to identify disease-causing variants in patients with hereditary and rare diseases. Discovering the true disease-causing variants often...
    Speaker: Anika Joecker, PhD
    Presented at: Clinical Diagnostics & Research Virtual Event Series 2016
    3
    OCT 05, 2016 | 6:00 AM
    Unique molecular indices (UMI) and their application in detecting novel gene fusions and gene expression and genetic variation
    Unique molecular indices (UMI) and their application in detecting...
    Tumor heterogeneity has been known for a while but quantifying heterogeneity is still a challenge.  NGS is the method of choice in the analysis of tumor heterogeneity, however, there are...
    Speaker: Samuel Rulli, PhD
    Presented at: Cancer Research & Oncology Week Virtual Event Series 2016
    3
    MAY 12, 2016 | 3:00 PM
    Using big data to interpret genomes for diagnostics, therapeutics, and precision medicine
    Using big data to interpret genomes for diagnostics, therapeutics,...
    Millions of individuals have been sequenced or genotyped and linked with medical records, providing an exciting opportunity for therapeutic target discovery. My lab has been using a resilienc...
    Speaker: Rong Chen, PhD
    Presented at: Genetics and Genomics Virtual Event Series 2016
    2
    MAY 12, 2016 | 1:30 PM
    The benefits and burdens of assaying matched normal tissue when sequencing cancer genomes
    The benefits and burdens of assaying matched normal tissue when...
    Targeted sequencing assays are increasingly used to identify tumor mutations that guide therapeutic decisions. Interpretation of a cancer variant’s origin and therapeutic impact poses a...
    Speaker: Elena Helman, PhD
    Presented at: Genetics and Genomics Virtual Event Series 2016
    2
     
     
  • MAY 11, 2016 | 3:00 PM
    Genomics in the Clinic - Medical Ethics and Policy
    Genomics in the Clinic - Medical Ethics and Policy
    It is estimated that by the end of this year more than 1 million people worldwide will have had their genome sequenced. Genomic sequencing is increasingly being integrated into clinical care,...
    Speaker: Amy McGuire, JD, PhD
    Presented at: Genetics and Genomics Virtual Event Series 2016
    4
    MAY 11, 2016 | 1:30 PM
    C.E. CREDITS
    Microfluidic Single Cell Exome-seq and RNA-seq analysis of Tumor Composition
    Microfluidic Single Cell Exome-seq and RNA-seq analysis of Tumor...
    Human breast tumors have been shown to exhibit extensive inter- and intra-tumor heterogeneity. While recent advances in genomic technologies have allowed us to deconvolute this heterogeneity,...
    Speaker: Ioannis (Jiannis) Ragoussis, PhD
    Presented at: Genetics and Genomics Virtual Event Series 2016
    3
    MAY 11, 2016 | 1:30 PM
    Pediatric genetics - Applications of NGS in the Clinic
    Pediatric genetics - Applications of NGS in the Clinic
    The rapid implementation of next generation sequencing is changing how genetics and genomics are applied in a clinical setting. However, the quickly evolving technology can be challenging to...
    Speaker: Emily Farrow, PhD, CGC
    Presented at: Genetics and Genomics Virtual Event Series 2016
    3
    MAY 11, 2016 | 12:00 PM
    Assembly and Analysis of Non-model Organism Transcriptomes Using DNASTAR Software
    Assembly and Analysis of Non-model Organism Transcriptomes Using...
    DNASTAR offers an integrated suite of software for accurate assembly and analysis of sequence data from all major next-generation sequencing platforms supporting key workflows including de no...
    Speaker: Matthew Keyser, MS
    Presented at: Genetics and Genomics Virtual Event Series 2016
    2
    MAY 11, 2016 | 6:00 AM
    Natural Human Gene Knockouts and the Discovery of New Drug Targets
    Natural Human Gene Knockouts and the Discovery of New Drug Targets
    It has been estimated that every human being carries ~20 rare “natural human gene knockouts”-DNA variants in protein-coding regions of the genome that partially or completely inac...
    Speaker: Frederick Dewey, MD
    Presented at: Genetics and Genomics Virtual Event Series 2016
    4
     
     
  • APR 07, 2016 | 7:30 AM
    The Personalis ACE CancerPlus Test: A Comprehensive DNA & RNA Sequencing Solution for Guiding Clinical Care & Improving Patient Outcomes
    The Personalis ACE CancerPlus Test: A Comprehensive DNA & RNA...
    Oncologists and pathologists are increasingly utilizing information on genomic alterations in tumors to help guide patient care and treatment. Personalis, Inc., a genomic sequencing and inter...
    Speaker: Heather Wetzel, MS, LCGC
    Presented at: Molecular Diagnostics Virtual Event Series 2016
    2
    APR 06, 2016 | 1:30 PM
    Validation and Implementation of Whole-Exome Sequencing to Guide Precision Cancer Care
    Validation and Implementation of Whole-Exome Sequencing to Guide...
    Cancer remains the second leading cause of death in the United States.  Most tumors arise from a myriad of genetic changes that dysregulate cell growth and prompt survival.  Ident...
    Speaker: Hanna Rennert, PhD, F.A.C.M.G
    Presented at: Molecular Diagnostics Virtual Event Series 2016
    4
    MAR 29, 2016 | 8:00 AM
    WEBINAR: Applications of Targeted Gene Panels in Inherited Disease Research
    WEBINAR: Applications of Targeted Gene Panels in Inherited Disease...
    Recent advances in next-generation sequencing (NGS) have helped to accelerate the pace of discovery in the field of genetic disease research and testing. The ability to analyze multiple genes...
    Speaker: Brian Meyer, PhD , Robert Sebra, PhD
    Sponsored By: Thermo Fisher Scientific - Ion Torrent, Thermo Fisher Scientific - Ion Torrent
    11 3
    MAR 22, 2016 | 9:30 AM
    Tales from the Clinic
    Tales from the Clinic
    Medical genetics is a specialty of medicine that encompasses patients at all ages (prenatal, pediatric, adult), as well as all organ systems. As the genetic causes of more diseases have been ...
    Speaker: Fuki Hisama, MD, FACMG, FAAN , Eric Konnick, MD, MS , Laura Amendola, MS CGC
    Presented at: GENETICS IN YOUR CLINIC: WHAT YOU CAN AND SHOULD DO NOW
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