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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

    • APR 13, 2017 | 10:30 AM
      Why Variants Matter: NGS Bioinformatics Simplified for Oncology & Virology
      Why Variants Matter: NGS Bioinformatics Simplified for Oncology...
      Next-generation sequencing is expected to take molecular diagnostics to the next level with the capability to perform deep analysis of genetic information that leads to targeted therapies per...
      Speaker: Condie Carmack, PhD , Ahmed Mahmoud, PhD
      Presented at: Molecular Diagnostics Virtual Event Series 2017
      Sponsored By: Vela Diagnostics
      3
      APR 12, 2017 | 7:30 AM
      Keynote Presentation - Variant interpretation in Molecular Diagnostics: Challenges and Knowledge Gaps
      Keynote Presentation - Variant interpretation in Molecular Diagnostics:...
      As next generation sequencing has lowered the price of DNA sequencing orders of magnitude below what it cost to create the first consensus human genome, the sheer diversity of human sequence...
      Speaker: Robert Nussbaum MD, FACP, FACMG
      Presented at: Molecular Diagnostics Virtual Event Series 2017
      5
      FEB 23, 2017 | 10:30 AM
      Clinical Whole Genome Sequencing In a Healthy Population
      Clinical Whole Genome Sequencing In a Healthy Population
      Clinical whole genome sequencing (cWGS) is rapidly gaining acceptance as cost is decreasing and success rates in identifying disease-causing variants are increasing. While the application of...
      Speaker: Erica Ramos, MS, CGC
      Presented at: Precision Medicine Virtual Event Series 2017
      3
      FEB 23, 2017 | 7:30 AM
      KEYNOTE: Towards a new era of precision medicine in psychiatry: Using genetic algorithms to optimize medication outcome
      KEYNOTE: Towards a new era of precision medicine in psychiatry:...
      Psychiatric disorders are among the leading causes of disability worldwide. One fifth of the population will suffer from a psychiatric disorder in their lifetime. Antipsychotic and antidepres...
      Speaker: Daniel Mueller, PhD
      Presented at: Precision Medicine Virtual Event Series 2017
      4
      FEB 22, 2017 | 6:00 AM
      GenomeFIRST ™ A new paradigm for the return of genomic results
      GenomeFIRST ™ A new paradigm for the return of genomic results
      The starting point for an interaction between a patient and a clinician is almost always a set of clinical facts (aka a phenotype). Phenotype-first medicine is the standard way in which the p...
      Speaker: Marc Williams, MD
      Presented at: Precision Medicine Virtual Event Series 2017
      4
      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 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
      SEP 07, 2016 | 7:30 AM
      Keynote Speaker: Challenges towards a Universal Influenza Virus Vaccine
      Keynote Speaker: Challenges towards a Universal Influenza Virus...
      Despite FDA-approved vaccines and antivirals, seasonal and pandemic influenza remains a serious threat associated with substantial morbidity and mortality.  The present modalities and va...
      Speaker: Peter Palese, PhD
      Presented at: Microbiology & Immunology Virtual Event Series 2016
      3
      AUG 30, 2016 | 8:00 AM
      Use of Stem Cell models to assess Genetic Change Underlying Neurodevelopmental Disorders
      Use of Stem Cell models to assess Genetic Change Underlying Neurodevelopmental...
      The study of human genetic neurodevelopmental disorders (NDDs) is complicated by the inaccessibility of the relevant tissue for study: it is extremely rare to obtain post-surgical brain sampl...
      Speaker: Lachlan Jolly, PhD
      Presented at: 4th Annual 24 Hours of Stem Cells™ virtual event
      1
      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 | 12:00 PM
      Implementation of genomic assays for tumor genome profiling in a clinical laboratory setting
      Implementation of genomic assays for tumor genome profiling in...
      In order to realize the benefits of personalized cancer therapy, increasing demands are placed upon clinical laboratories to provide timely, comprehensive, clinically actionable, and analytic...
      Speaker: Sarah Murray, PhD
      Presented at: Genetics and Genomics Virtual Event Series 2016
      2
      MAY 12, 2016 | 12:00 PM
      Learning Biology from Networks and their Structure
      Learning Biology from Networks and their Structure
      Network models are an invaluable tool for integrating multiple data types and for modeling interactions between biological elements. One common question that arises, however, is what to do wi...
      Speaker: John Platig, PhD
      Presented at: Genetics and Genomics Virtual Event Series 2016
      2
      MAY 12, 2016 | 7:30 AM
      Polymorphic miRNA binding sites in the WFS1 gene are risk factors of diabetes mellitus
      Polymorphic miRNA binding sites in the WFS1 gene are risk factors...
           Wolframin is a major protein of the endoplasmic reticulum, it is expressed in most tissues and clinical data demonstrate its significant connection to diabetes mellitus. L...
      Speaker: Zsolt Rónai, MD, PhD
      Presented at: Genetics and Genomics Virtual Event Series 2016
      5
      MAY 12, 2016 | 6:00 AM
      The sequencing of 10,000 Human Genomes
      The sequencing of 10,000 Human Genomes
      Technological advances allow for the large scale sequencing of the whole human genome. Most studies have generated population-based information on human diversity using low to intermediate co...
      Speaker: Amalio Telenti MD, PhD
      Presented at: Genetics and Genomics Virtual Event Series 2016
      2
      MAY 11, 2016 | 12:00 PM
      C.E. CREDITS
      Implementing Longitudinal Clinical/Whole Genome Research
      Implementing Longitudinal Clinical/Whole Genome Research
      Technological advances have made genomic sequencing more affordable, efficient, and available. Questions related to the implementation and effects of large-scale sequencing in healthcare have...
      Speaker: Benjamin Solomon, MD
      Presented at: Genetics and Genomics Virtual Event Series 2016
      3
      MAY 11, 2016 | 10:30 AM
      Whole Genome? The Future of High-Quality Genomes & Transcriptomes
      Whole Genome? The Future of High-Quality Genomes & Transcriptomes
      New approaches to generate high-quality representations of human genomes and transcriptomes are now becoming available. In contrast to short-read “Whole-Genome” re-sequencing meth...
      Speaker: Jonas Korlach, PhD
      Presented at: Genetics and Genomics Virtual Event Series 2016
      2
      MAY 11, 2016 | 7:30 AM
      Keynote: Genomes for Medicine
      Keynote: Genomes for Medicine
      Advances in DNA sequencing technology are about to transform healthcare.    Since completion of the human genome reference sequence ten years ago, there has been a 1-million fold im...
      Speaker: David Bentley, DPhil, FMedSci
      Presented at: Genetics and Genomics Virtual Event Series 2016
      5
      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 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 | 12:45 PM
      Turnkey resources: The Genetics Tool Kit
      Turnkey resources: The Genetics Tool Kit
      Genomic Medicine is an incredibly fast moving field awash in information. Successful practice requires ongoing access to authoritative and regularly-updated, yet focused resources for both pr...
      Speaker: Jean Jenkins, PhD, RN, FAAN
      Presented at: GENETICS IN YOUR CLINIC: WHAT YOU CAN AND SHOULD DO NOW
      2
      MAR 22, 2016 | 11:30 AM
      Tu nuevo mejor amigo: Tu relación con el laboratorio de genética
      Tu nuevo mejor amigo: Tu relación con el laboratorio de genética
      Esta sesión le brindara ejemplos de estudios genéticos que son frecuentemente solicitados y que información pueden brindar al medico y al paciente. Los conferencistas ex...
      Speaker: Carlos Bacino, MD
      Presented at: GENETICS IN YOUR CLINIC: WHAT YOU CAN AND SHOULD DO NOW
      2
      MAR 22, 2016 | 11:30 AM
      Your New Best Friend: Building a Relationship with the Genetics Laboratory
      Your New Best Friend: Building a Relationship with the Genetics...
      This session will give examples of the types of genetic tests that are most often ordered and what those tests are generally able to tell the physician and patient. The speakers will walk thr...
      Speaker: Heidi L. Rehm, PhD, FACMG
      Presented at: GENETICS IN YOUR CLINIC: WHAT YOU CAN AND SHOULD DO NOW
      2
      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
    APR 13, 2017 | 10:30 AM
    Why Variants Matter: NGS Bioinformatics Simplified for Oncology & Virology
    Why Variants Matter: NGS Bioinformatics Simplified for Oncology...
    Next-generation sequencing is expected to take molecular diagnostics to the next level with the capability to perform deep analysis of genetic information that leads to targeted therapies per...
    Speaker: Condie Carmack, PhD , Ahmed Mahmoud, PhD
    Presented at: Molecular Diagnostics Virtual Event Series 2017
    Sponsored By: Vela Diagnostics
    3
    APR 12, 2017 | 7:30 AM
    Keynote Presentation - Variant interpretation in Molecular Diagnostics: Challenges and Knowledge Gaps
    Keynote Presentation - Variant interpretation in Molecular Diagnostics:...
    As next generation sequencing has lowered the price of DNA sequencing orders of magnitude below what it cost to create the first consensus human genome, the sheer diversity of human sequence...
    Speaker: Robert Nussbaum MD, FACP, FACMG
    Presented at: Molecular Diagnostics Virtual Event Series 2017
    5
    FEB 23, 2017 | 10:30 AM
    Clinical Whole Genome Sequencing In a Healthy Population
    Clinical Whole Genome Sequencing In a Healthy Population
    Clinical whole genome sequencing (cWGS) is rapidly gaining acceptance as cost is decreasing and success rates in identifying disease-causing variants are increasing. While the application of...
    Speaker: Erica Ramos, MS, CGC
    Presented at: Precision Medicine Virtual Event Series 2017
    3
    FEB 23, 2017 | 7:30 AM
    KEYNOTE: Towards a new era of precision medicine in psychiatry: Using genetic algorithms to optimize medication outcome
    KEYNOTE: Towards a new era of precision medicine in psychiatry:...
    Psychiatric disorders are among the leading causes of disability worldwide. One fifth of the population will suffer from a psychiatric disorder in their lifetime. Antipsychotic and antidepres...
    Speaker: Daniel Mueller, PhD
    Presented at: Precision Medicine Virtual Event Series 2017
    4
    FEB 22, 2017 | 6:00 AM
    GenomeFIRST ™ A new paradigm for the return of genomic results
    GenomeFIRST ™ A new paradigm for the return of genomic results
    The starting point for an interaction between a patient and a clinician is almost always a set of clinical facts (aka a phenotype). Phenotype-first medicine is the standard way in which the p...
    Speaker: Marc Williams, MD
    Presented at: Precision Medicine Virtual Event Series 2017
    4
     
     
  • 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 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
    SEP 07, 2016 | 7:30 AM
    Keynote Speaker: Challenges towards a Universal Influenza Virus Vaccine
    Keynote Speaker: Challenges towards a Universal Influenza Virus...
    Despite FDA-approved vaccines and antivirals, seasonal and pandemic influenza remains a serious threat associated with substantial morbidity and mortality.  The present modalities and va...
    Speaker: Peter Palese, PhD
    Presented at: Microbiology & Immunology Virtual Event Series 2016
    3
    AUG 30, 2016 | 8:00 AM
    Use of Stem Cell models to assess Genetic Change Underlying Neurodevelopmental Disorders
    Use of Stem Cell models to assess Genetic Change Underlying Neurodevelopmental...
    The study of human genetic neurodevelopmental disorders (NDDs) is complicated by the inaccessibility of the relevant tissue for study: it is extremely rare to obtain post-surgical brain sampl...
    Speaker: Lachlan Jolly, PhD
    Presented at: 4th Annual 24 Hours of Stem Cells™ virtual event
    1
    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 | 12:00 PM
    Implementation of genomic assays for tumor genome profiling in a clinical laboratory setting
    Implementation of genomic assays for tumor genome profiling in...
    In order to realize the benefits of personalized cancer therapy, increasing demands are placed upon clinical laboratories to provide timely, comprehensive, clinically actionable, and analytic...
    Speaker: Sarah Murray, PhD
    Presented at: Genetics and Genomics Virtual Event Series 2016
    2
    MAY 12, 2016 | 12:00 PM
    Learning Biology from Networks and their Structure
    Learning Biology from Networks and their Structure
    Network models are an invaluable tool for integrating multiple data types and for modeling interactions between biological elements. One common question that arises, however, is what to do wi...
    Speaker: John Platig, PhD
    Presented at: Genetics and Genomics Virtual Event Series 2016
    2
    MAY 12, 2016 | 7:30 AM
    Polymorphic miRNA binding sites in the WFS1 gene are risk factors of diabetes mellitus
    Polymorphic miRNA binding sites in the WFS1 gene are risk factors...
         Wolframin is a major protein of the endoplasmic reticulum, it is expressed in most tissues and clinical data demonstrate its significant connection to diabetes mellitus. L...
    Speaker: Zsolt Rónai, MD, PhD
    Presented at: Genetics and Genomics Virtual Event Series 2016
    5
    MAY 12, 2016 | 6:00 AM
    The sequencing of 10,000 Human Genomes
    The sequencing of 10,000 Human Genomes
    Technological advances allow for the large scale sequencing of the whole human genome. Most studies have generated population-based information on human diversity using low to intermediate co...
    Speaker: Amalio Telenti MD, PhD
    Presented at: Genetics and Genomics Virtual Event Series 2016
    2
    MAY 11, 2016 | 12:00 PM
    C.E. CREDITS
    Implementing Longitudinal Clinical/Whole Genome Research
    Implementing Longitudinal Clinical/Whole Genome Research
    Technological advances have made genomic sequencing more affordable, efficient, and available. Questions related to the implementation and effects of large-scale sequencing in healthcare have...
    Speaker: Benjamin Solomon, MD
    Presented at: Genetics and Genomics Virtual Event Series 2016
    3
     
     
  • MAY 11, 2016 | 10:30 AM
    Whole Genome? The Future of High-Quality Genomes & Transcriptomes
    Whole Genome? The Future of High-Quality Genomes & Transcriptomes
    New approaches to generate high-quality representations of human genomes and transcriptomes are now becoming available. In contrast to short-read “Whole-Genome” re-sequencing meth...
    Speaker: Jonas Korlach, PhD
    Presented at: Genetics and Genomics Virtual Event Series 2016
    2
    MAY 11, 2016 | 7:30 AM
    Keynote: Genomes for Medicine
    Keynote: Genomes for Medicine
    Advances in DNA sequencing technology are about to transform healthcare.    Since completion of the human genome reference sequence ten years ago, there has been a 1-million fold im...
    Speaker: David Bentley, DPhil, FMedSci
    Presented at: Genetics and Genomics Virtual Event Series 2016
    5
    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 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 | 12:45 PM
    Turnkey resources: The Genetics Tool Kit
    Turnkey resources: The Genetics Tool Kit
    Genomic Medicine is an incredibly fast moving field awash in information. Successful practice requires ongoing access to authoritative and regularly-updated, yet focused resources for both pr...
    Speaker: Jean Jenkins, PhD, RN, FAAN
    Presented at: GENETICS IN YOUR CLINIC: WHAT YOU CAN AND SHOULD DO NOW
    2
    MAR 22, 2016 | 11:30 AM
    Tu nuevo mejor amigo: Tu relación con el laboratorio de genética
    Tu nuevo mejor amigo: Tu relación con el laboratorio de genética
    Esta sesión le brindara ejemplos de estudios genéticos que son frecuentemente solicitados y que información pueden brindar al medico y al paciente. Los conferencistas ex...
    Speaker: Carlos Bacino, MD
    Presented at: GENETICS IN YOUR CLINIC: WHAT YOU CAN AND SHOULD DO NOW
    2
    MAR 22, 2016 | 11:30 AM
    Your New Best Friend: Building a Relationship with the Genetics Laboratory
    Your New Best Friend: Building a Relationship with the Genetics...
    This session will give examples of the types of genetic tests that are most often ordered and what those tests are generally able to tell the physician and patient. The speakers will walk thr...
    Speaker: Heidi L. Rehm, PhD, FACMG
    Presented at: GENETICS IN YOUR CLINIC: WHAT YOU CAN AND SHOULD DO NOW
    2
    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
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