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    Gene mutations

    Gene mutations describe a change in the DNA sequence that makes up a gene. There are many kinds of gene mutations which have been characterized by scientists. The main categories of mutations are germline mutations, which occur in the gametes (haploid male or female reproductive cells), and somatic mutations, occur in all other cell types. Chromosomal alterations are mutations that change the structure of chromosomes in a variety of ways such as deletion, duplication, insertion, translocation, or inversion of a section of the chromosome. Point mutations include a single nucleotide change within the DNA and these mutations can be classified as silent (the mutation codes for the same amino acid so the change has no effect), missense (the mutation codes for an alternative amino acid), and nonsense (the mutation codes for a premature stop codon). Frameshift mutations occur when the addition or deletion of nucleotide(s) alter the reading frame of the sequence altering all subsequent amino acid coding.

    Webinars

    • AUG 25, 2021 | 1:30 PM
      Spatial Transcriptomics of Alzheimer's Disease Mouse Models with and Without Trem2R47H Mutation.
      Spatial Transcriptomics of Alzheimer's Disease Mouse Models with...
      In this preliminary experiment, we used spatial transcriptomics to assess the gene expression profiles of microglia or astrocytes in relation to their distance from plaques. We compared 18-m...
      Speaker: Frances Edwards, PhD
      Presented at: Neuroscience Virtual Event Series 2021
      Sponsored By: NanoString Technologies
      1
      AUG 25, 2021 | 8:00 AM
      Improving heterologous protein production in yeast with massively parallel CRISPR genome editing
      Improving heterologous protein production in yeast with massively...
      Date: August 25, 2021 Time: 8:00am (PDT), 11:00am (EDT) Heterologous protein production is an indispensable tool in biotechnology and biopharma for manufacturing enzymes, protein therapeutic...
      Speaker: Eric Abbate
      Sponsored By: Inscripta
      5 2
      AUG 25, 2021 | 12:00 AM
      Mechanistic Insight into Tandem Repeat Expansions in Amyotrophic Lateral Sclerosis
      Mechanistic Insight into Tandem Repeat Expansions in Amyotrophic...
      Over 40 tandem repeats undergo expansion events that lead to neurological disease. This number is likely an underestimate as many repeats are difficult to amplify using existing short read s...
      Speaker: Paul Valdmanis, PhD
      Presented at: Neuroscience Virtual Event Series 2021
      Sponsored By: PacBio
      1
      JUL 28, 2021 | 7:00 AM
      Population bottlenecks strongly affect the evolutionary dynamics of antibiotic persistence
      Population bottlenecks strongly affect the evolutionary dynamics...
      Date: July 28, 2021 Time: 7:00am PDT Bacterial persistence is a potential cause of antibiotic therapy failure. Antibiotic-tolerant persisters originate from phenotypic differentiation within...
      Speaker: Bram Van den Bergh
      Sponsored By: Inscripta
      5 1
      JUL 22, 2021 | 4:15 PM
      Clinical Scale Gene Editing for Cell and Gene Therapy Applications
      Clinical Scale Gene Editing for Cell and Gene Therapy Applications
      Genome editing technologies have enabled the precise manipulation of DNA sequences at targeted sites to achieve therapeutic effects. Engineered endonucleases like CRISPR-Cas9 institute site-...
      Speaker: Rama Shivakumar
      Presented at: GenScript Gene & Cell Engineering Virtual Summit
      4
      JUL 22, 2021 | 12:00 PM
      Genetic engineering approaches to support clinical applications of T-cell receptor libraries targeting oncogenic mutations
      Genetic engineering approaches to support clinical applications...
      T-cells targeting shared oncogenic mutations can induce durable tumor regression in epithelial cancer patients. Such T cells can be detected in tumor-infiltrating lymphocytes and peripheral...
      Speaker: Gal Cafri, PhD
      Presented at: GenScript Gene & Cell Engineering Virtual Summit
      2
      JUN 29, 2021 | 8:00 AM
      Leveraging acoustic and tip-based liquid handling to increase SARS-CoV-2 sequencing throughput
      Leveraging acoustic and tip-based liquid handling to increase...
      Date: June 29, 2021 Time: 08:00am PDT As the SARS-CoV-2 virus that causes COVID-19 keeps mutating, there is a growing need to sequence the viral genome from many COVID-19-positive samples to...
      Speaker: Dr. Eric Chow
      Sponsored By: Beckman Coulter Life Sciences
      13 1
      JUN 24, 2021 | 9:00 AM
      Structural Oncology - Fighting Cancer with Cryo-EM
      Structural Oncology - Fighting Cancer with Cryo-EM
      Date: June 24, 2021 Time: 9:00am PDT Currently, there are insufficient therapies to fully eradicate human cancer or predict who it will strike. Rational-drug design based on structural insi...
      Speaker: Deb Kelly
      Sponsored By: Thermo Fisher Scientific
      5
      JUN 16, 2021 | 7:00 AM
      The paradigm of lung cancer: from therapy selection to resistance monitoring
      The paradigm of lung cancer: from therapy selection to resistance...
      Date: June 16, 2021 Time: 7:00am (PDT), 10:00am (EDT) Non-small cell lung cancer (NSCLC) has become an important example of precision medicine among solid tumor malignancies. Next-generation...
      Speaker: Antonio Marchetti, Ph.D
      Sponsored By: Agilent
      6
      JUN 08, 2021 | 10:00 AM
      Researching Early Detection of Ovarian and Endometrial Cancer using High Sensitivity Genomic Assays
      Researching Early Detection of Ovarian and Endometrial Cancer...
      Date: June 8, 2021 Time: 10:00am (PDT), 1:00pm (EDT) Most deaths from ovarian and endometrial cancer are due to high-grade subtypes that metastasize before they are detectable by available...
      Speaker: Lucy Gilbert, MD, MSc, FRCOG , Ioannis Ragoussis, Ph.D.
      Sponsored By: Agilent
      20
      JUN 02, 2021 | 12:00 AM
      Development of FGFR4 targeted Chimeric Antigen Receptors (CARs) for treatment of Rhabdomyosarcoma
      Development of FGFR4 targeted Chimeric Antigen Receptors (CARs)...
      Rhabdomyosarcoma (RMS) is a soft tissue cancer commonly arising in muscle and is the most common soft tissue cancer in children. Patients with metastatic RMS have a poor prognosis that has n...
      Speaker: Peter Sullivan, PhD
      Presented at: Immuno-Oncology Virtual Event Series 2021
      1
      MAY 18, 2021 | 7:00 AM
      Hitting the Achilles' Heel of Cancers with Confidence - Robust Validation of Neoantigens
      Hitting the Achilles' Heel of Cancers with Confidence - Robust...
      Date: May 18, 2021 Time: 7:00am PDT, 10:00am EDT Proteins encoded by mutant genes in cancers can be processed and presented on tumor cell surface by human leukocyte antigen (HLA) molecules,...
      Speaker: Qing Wang, PhD, MHS, MS
      Sponsored By: Agilent
      5 2
      APR 29, 2021 | 4:15 PM
      Comprehensive Genomic Profiling for Homologous Recombination Repair Deficiency (HRD) Assessment
      Comprehensive Genomic Profiling for Homologous Recombination Repair...
      Comprehensive genomic profiling (CGP) is advancing precision oncology research through simultaneous analysis of multiple biomarkers in a single next-generation sequencing (NGS) assay. In thi...
      Speaker: Dr. Andreas Jung
      Presented at: OncomineWorld 2022: A Virtual NGS Education Meeting
      2
      APR 29, 2021 | 3:25 PM
      NSCLC molecular profiling: An NGS based approach using Oncomine Solutions
      NSCLC molecular profiling: An NGS based approach using Oncomine...
      Next-generation sequencing is transforming scientific research and testing. Thanks to large-scale cancer projects (e.g. The Cancer Genome Atlas - TCGA), the accumulated knowledge is now used...
      Speaker: Artur Kowalik, Ph.D.
      Presented at: OncomineWorld 2022: A Virtual NGS Education Meeting
      3
      APR 22, 2021 | 6:00 AM
      Panel Presentation: Powering the precision in "precision medicine" - The role of curated data, databases and knowledge: Does a gold standard exist?
      Panel Presentation: Powering the precision in "precision medicine"...
      As NGS panels grow, test interpretation becomes more complex and time-consuming / With the explosion of NGS data, the need for consolidated databases with reliable and transparent curation a...
      Speaker: Dominic John , Simon Forbes, PhD , Shawn Bauer , Lisa Barrow-Laing
      Presented at: Genetics Week Virtual Event Series 2021
      Sponsored By: QIAGEN
      2
      APR 22, 2021 | 12:00 AM
      Laboratory Implementation of Clinical Genomics in Children
      Laboratory Implementation of Clinical Genomics in Children
      Laboratory implementation of clinical genomics in children requires customization of analytical tools tailored to profile the divergent mutational landscape in childhood tumors. The relative...
      Speaker: Angshumoy Roy, MD, PhD
      Presented at: Genetics Week Virtual Event Series 2021
      2
      APR 20, 2021 | 12:00 AM
      C.E. CREDITS
      Deciphering Brain Mosaicism with Long-read Sequencing
      Deciphering Brain Mosaicism with Long-read Sequencing
      Somatic mutations that arise during development are increasingly recognized as contributors to neurodevelopmental disease. One challenge has been to determine how mosaic mutations contribute...
      Speaker: Tracy Bedrosian, Ph.D.
      Presented at: Genetics Week Virtual Event Series 2021
      1
      APR 14, 2021 | 12:00 PM
      Solutions for SARS-CoV-2 Strain Lineage Surveillance
      Solutions for SARS-CoV-2 Strain Lineage Surveillance
      The COVID19 pandemic continues to be a major epidemiological challenge across the globe. Part of the challenge, often seen with viruses, is that the nucleic acid genome quickly mutates, prod...
      Speaker: Stephen Jackson
      Presented at: Coronavirus Series
      Sponsored By: Thermo Fisher Scientific
      3
      APR 14, 2021 | 12:00 AM
      The Next Big Question: Genomic Surveillance of SARS-CoV-2
      The Next Big Question: Genomic Surveillance of SARS-CoV-2
      Despite a continuous decline of corona virus cases, the broad rollout of multiple vaccines, and the start of a return to normalcy, concerns of SARS-CoV-2 outbreaks continue to linger on the...
      Speaker: Gary Schroth, Ph.D.
      Presented at: Coronavirus Series
      1
      APR 08, 2021 | 2:15 PM
      Functional Roles of the Novel Membrane-Associated AAV Protein MAAP
      Functional Roles of the Novel Membrane-Associated AAV Protein...
      The adeno-associated virus (AAV) has evolved overlapping genes to maximize its genome use, as with the recently-discovered ORF in the cap gene which encodes a membrane-associated accessory p...
      Speaker: Lionel Galibert, Ph.D.
      Presented at: Advancing CGT: A GENEWIZ & Brooks Life Sciences Virtual Event
      1
      FEB 24, 2021 | 7:00 AM
      DeepCLIP: Predicting the effect of mutations on protein-RNA binding with deep learning
      DeepCLIP: Predicting the effect of mutations on protein-RNA binding...
      Date: February 24, 2021 Time: 7:00am (PST) Nucleotide variants can cause functional changes by altering protein–RNA binding in various ways that are not easy to predict. This can affec...
      Speaker: Thomas Doktor, PhD.
      Sponsored By: GenScript
      12
      FEB 10, 2021 | 12:00 AM
      Organoids & Toxins - from snakebite to DNA-damaging bacteria
      Organoids & Toxins - from snakebite to DNA-damaging bacteria
      Organoids are emerging tools to study homeostatic function and disease of human organs. This technology has now for the first time been extended to reptiles by establishing cultures of the s...
      Speaker: Jens Puschhof
      Presented at: Laboratory Animal Sciences Virtual Event Series 2021
      2
      JAN 26, 2021 | 8:00 AM
      High-throughput CRISPR editing using the Onyx™ platform identifies essential residues in proteins
      High-throughput CRISPR editing using the Onyx™ platform identifies...
      Date: January 26, 2021 Time: 9:00am (PST), 12:00pm (EST) Over the past years, CRISPR/Cas genome editing has quickly become the method of choice for genetic manipulation, owing to its ease-of...
      Speaker: Liselot Dewachter, PhD , Laura Klitten, Ph.D.
      Sponsored By: Inscripta
      13 2
      DEC 03, 2020 | 4:30 PM
      An Iterative Approach to Structure-based in silico to in vivo Development of Combinatorial Anti-SARS-CoV-2 Therapy
      An Iterative Approach to Structure-based in silico to in vivo...
      This drug development program is designed to create a family of broad-spectrum, pan-coronaviral drugs that respectively inhibit multiple key enzymes required for viral replication. By target...
      Speaker: Garth Ehrlich, PhD, FAAAS
      Presented at: Coronavirus Series
      5
    AUG 25, 2021 | 1:30 PM
    Spatial Transcriptomics of Alzheimer's Disease Mouse Models with and Without Trem2R47H Mutation.
    Spatial Transcriptomics of Alzheimer's Disease Mouse Models with...
    In this preliminary experiment, we used spatial transcriptomics to assess the gene expression profiles of microglia or astrocytes in relation to their distance from plaques. We compared 18-m...
    Speaker: Frances Edwards, PhD
    Presented at: Neuroscience Virtual Event Series 2021
    Sponsored By: NanoString Technologies
    1
    AUG 25, 2021 | 8:00 AM
    Improving heterologous protein production in yeast with massively parallel CRISPR genome editing
    Improving heterologous protein production in yeast with massively...
    Date: August 25, 2021 Time: 8:00am (PDT), 11:00am (EDT) Heterologous protein production is an indispensable tool in biotechnology and biopharma for manufacturing enzymes, protein therapeutic...
    Speaker: Eric Abbate
    Sponsored By: Inscripta
    5 2
    AUG 25, 2021 | 12:00 AM
    Mechanistic Insight into Tandem Repeat Expansions in Amyotrophic Lateral Sclerosis
    Mechanistic Insight into Tandem Repeat Expansions in Amyotrophic...
    Over 40 tandem repeats undergo expansion events that lead to neurological disease. This number is likely an underestimate as many repeats are difficult to amplify using existing short read s...
    Speaker: Paul Valdmanis, PhD
    Presented at: Neuroscience Virtual Event Series 2021
    Sponsored By: PacBio
    1
    JUL 28, 2021 | 7:00 AM
    Population bottlenecks strongly affect the evolutionary dynamics of antibiotic persistence
    Population bottlenecks strongly affect the evolutionary dynamics...
    Date: July 28, 2021 Time: 7:00am PDT Bacterial persistence is a potential cause of antibiotic therapy failure. Antibiotic-tolerant persisters originate from phenotypic differentiation within...
    Speaker: Bram Van den Bergh
    Sponsored By: Inscripta
    5 1
    JUL 22, 2021 | 4:15 PM
    Clinical Scale Gene Editing for Cell and Gene Therapy Applications
    Clinical Scale Gene Editing for Cell and Gene Therapy Applications
    Genome editing technologies have enabled the precise manipulation of DNA sequences at targeted sites to achieve therapeutic effects. Engineered endonucleases like CRISPR-Cas9 institute site-...
    Speaker: Rama Shivakumar
    Presented at: GenScript Gene & Cell Engineering Virtual Summit
    4
     
     
  • JUL 22, 2021 | 12:00 PM
    Genetic engineering approaches to support clinical applications of T-cell receptor libraries targeting oncogenic mutations
    Genetic engineering approaches to support clinical applications...
    T-cells targeting shared oncogenic mutations can induce durable tumor regression in epithelial cancer patients. Such T cells can be detected in tumor-infiltrating lymphocytes and peripheral...
    Speaker: Gal Cafri, PhD
    Presented at: GenScript Gene & Cell Engineering Virtual Summit
    2
    JUN 29, 2021 | 8:00 AM
    Leveraging acoustic and tip-based liquid handling to increase SARS-CoV-2 sequencing throughput
    Leveraging acoustic and tip-based liquid handling to increase...
    Date: June 29, 2021 Time: 08:00am PDT As the SARS-CoV-2 virus that causes COVID-19 keeps mutating, there is a growing need to sequence the viral genome from many COVID-19-positive samples to...
    Speaker: Dr. Eric Chow
    Sponsored By: Beckman Coulter Life Sciences
    13 1
    JUN 24, 2021 | 9:00 AM
    Structural Oncology - Fighting Cancer with Cryo-EM
    Structural Oncology - Fighting Cancer with Cryo-EM
    Date: June 24, 2021 Time: 9:00am PDT Currently, there are insufficient therapies to fully eradicate human cancer or predict who it will strike. Rational-drug design based on structural insi...
    Speaker: Deb Kelly
    Sponsored By: Thermo Fisher Scientific
    5
    JUN 16, 2021 | 7:00 AM
    The paradigm of lung cancer: from therapy selection to resistance monitoring
    The paradigm of lung cancer: from therapy selection to resistance...
    Date: June 16, 2021 Time: 7:00am (PDT), 10:00am (EDT) Non-small cell lung cancer (NSCLC) has become an important example of precision medicine among solid tumor malignancies. Next-generation...
    Speaker: Antonio Marchetti, Ph.D
    Sponsored By: Agilent
    6
    JUN 08, 2021 | 10:00 AM
    Researching Early Detection of Ovarian and Endometrial Cancer using High Sensitivity Genomic Assays
    Researching Early Detection of Ovarian and Endometrial Cancer...
    Date: June 8, 2021 Time: 10:00am (PDT), 1:00pm (EDT) Most deaths from ovarian and endometrial cancer are due to high-grade subtypes that metastasize before they are detectable by available...
    Speaker: Lucy Gilbert, MD, MSc, FRCOG , Ioannis Ragoussis, Ph.D.
    Sponsored By: Agilent
    20
     
     
  • JUN 02, 2021 | 12:00 AM
    Development of FGFR4 targeted Chimeric Antigen Receptors (CARs) for treatment of Rhabdomyosarcoma
    Development of FGFR4 targeted Chimeric Antigen Receptors (CARs)...
    Rhabdomyosarcoma (RMS) is a soft tissue cancer commonly arising in muscle and is the most common soft tissue cancer in children. Patients with metastatic RMS have a poor prognosis that has n...
    Speaker: Peter Sullivan, PhD
    Presented at: Immuno-Oncology Virtual Event Series 2021
    1
    MAY 18, 2021 | 7:00 AM
    Hitting the Achilles' Heel of Cancers with Confidence - Robust Validation of Neoantigens
    Hitting the Achilles' Heel of Cancers with Confidence - Robust...
    Date: May 18, 2021 Time: 7:00am PDT, 10:00am EDT Proteins encoded by mutant genes in cancers can be processed and presented on tumor cell surface by human leukocyte antigen (HLA) molecules,...
    Speaker: Qing Wang, PhD, MHS, MS
    Sponsored By: Agilent
    5 2
    APR 29, 2021 | 4:15 PM
    Comprehensive Genomic Profiling for Homologous Recombination Repair Deficiency (HRD) Assessment
    Comprehensive Genomic Profiling for Homologous Recombination Repair...
    Comprehensive genomic profiling (CGP) is advancing precision oncology research through simultaneous analysis of multiple biomarkers in a single next-generation sequencing (NGS) assay. In thi...
    Speaker: Dr. Andreas Jung
    Presented at: OncomineWorld 2022: A Virtual NGS Education Meeting
    2
    APR 29, 2021 | 3:25 PM
    NSCLC molecular profiling: An NGS based approach using Oncomine Solutions
    NSCLC molecular profiling: An NGS based approach using Oncomine...
    Next-generation sequencing is transforming scientific research and testing. Thanks to large-scale cancer projects (e.g. The Cancer Genome Atlas - TCGA), the accumulated knowledge is now used...
    Speaker: Artur Kowalik, Ph.D.
    Presented at: OncomineWorld 2022: A Virtual NGS Education Meeting
    3
    APR 22, 2021 | 6:00 AM
    Panel Presentation: Powering the precision in "precision medicine" - The role of curated data, databases and knowledge: Does a gold standard exist?
    Panel Presentation: Powering the precision in "precision medicine"...
    As NGS panels grow, test interpretation becomes more complex and time-consuming / With the explosion of NGS data, the need for consolidated databases with reliable and transparent curation a...
    Speaker: Dominic John , Simon Forbes, PhD , Shawn Bauer , Lisa Barrow-Laing
    Presented at: Genetics Week Virtual Event Series 2021
    Sponsored By: QIAGEN
    2
     
     
  • APR 22, 2021 | 12:00 AM
    Laboratory Implementation of Clinical Genomics in Children
    Laboratory Implementation of Clinical Genomics in Children
    Laboratory implementation of clinical genomics in children requires customization of analytical tools tailored to profile the divergent mutational landscape in childhood tumors. The relative...
    Speaker: Angshumoy Roy, MD, PhD
    Presented at: Genetics Week Virtual Event Series 2021
    2
    APR 20, 2021 | 12:00 AM
    C.E. CREDITS
    Deciphering Brain Mosaicism with Long-read Sequencing
    Deciphering Brain Mosaicism with Long-read Sequencing
    Somatic mutations that arise during development are increasingly recognized as contributors to neurodevelopmental disease. One challenge has been to determine how mosaic mutations contribute...
    Speaker: Tracy Bedrosian, Ph.D.
    Presented at: Genetics Week Virtual Event Series 2021
    1
    APR 14, 2021 | 12:00 PM
    Solutions for SARS-CoV-2 Strain Lineage Surveillance
    Solutions for SARS-CoV-2 Strain Lineage Surveillance
    The COVID19 pandemic continues to be a major epidemiological challenge across the globe. Part of the challenge, often seen with viruses, is that the nucleic acid genome quickly mutates, prod...
    Speaker: Stephen Jackson
    Presented at: Coronavirus Series
    Sponsored By: Thermo Fisher Scientific
    3
    APR 14, 2021 | 12:00 AM
    The Next Big Question: Genomic Surveillance of SARS-CoV-2
    The Next Big Question: Genomic Surveillance of SARS-CoV-2
    Despite a continuous decline of corona virus cases, the broad rollout of multiple vaccines, and the start of a return to normalcy, concerns of SARS-CoV-2 outbreaks continue to linger on the...
    Speaker: Gary Schroth, Ph.D.
    Presented at: Coronavirus Series
    1
    APR 08, 2021 | 2:15 PM
    Functional Roles of the Novel Membrane-Associated AAV Protein MAAP
    Functional Roles of the Novel Membrane-Associated AAV Protein...
    The adeno-associated virus (AAV) has evolved overlapping genes to maximize its genome use, as with the recently-discovered ORF in the cap gene which encodes a membrane-associated accessory p...
    Speaker: Lionel Galibert, Ph.D.
    Presented at: Advancing CGT: A GENEWIZ & Brooks Life Sciences Virtual Event
    1
     
     
  • FEB 24, 2021 | 7:00 AM
    DeepCLIP: Predicting the effect of mutations on protein-RNA binding with deep learning
    DeepCLIP: Predicting the effect of mutations on protein-RNA binding...
    Date: February 24, 2021 Time: 7:00am (PST) Nucleotide variants can cause functional changes by altering protein–RNA binding in various ways that are not easy to predict. This can affec...
    Speaker: Thomas Doktor, PhD.
    Sponsored By: GenScript
    12
    FEB 10, 2021 | 12:00 AM
    Organoids & Toxins - from snakebite to DNA-damaging bacteria
    Organoids & Toxins - from snakebite to DNA-damaging bacteria
    Organoids are emerging tools to study homeostatic function and disease of human organs. This technology has now for the first time been extended to reptiles by establishing cultures of the s...
    Speaker: Jens Puschhof
    Presented at: Laboratory Animal Sciences Virtual Event Series 2021
    2
    JAN 26, 2021 | 8:00 AM
    High-throughput CRISPR editing using the Onyx™ platform identifies essential residues in proteins
    High-throughput CRISPR editing using the Onyx™ platform identifies...
    Date: January 26, 2021 Time: 9:00am (PST), 12:00pm (EST) Over the past years, CRISPR/Cas genome editing has quickly become the method of choice for genetic manipulation, owing to its ease-of...
    Speaker: Liselot Dewachter, PhD , Laura Klitten, Ph.D.
    Sponsored By: Inscripta
    13 2
    DEC 03, 2020 | 4:30 PM
    An Iterative Approach to Structure-based in silico to in vivo Development of Combinatorial Anti-SARS-CoV-2 Therapy
    An Iterative Approach to Structure-based in silico to in vivo...
    This drug development program is designed to create a family of broad-spectrum, pan-coronaviral drugs that respectively inhibit multiple key enzymes required for viral replication. By target...
    Speaker: Garth Ehrlich, PhD, FAAAS
    Presented at: Coronavirus Series
    5
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