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    Mutation

    Mutation: the changing of the structure of a gene, resulting in a variant form that may be transmitted to subsequent generations, caused by the alteration of single base units in DNA, or the deletion, insertion, or rearrangement of larger sections of genes or chromosomes.

    Webinars

    • DEC 01, 2017 | 12:00 AM
      Beyond Automated iPSC reprogramming: applications for a fully automated cell culture system for pluripotent stem cell research
      Beyond Automated iPSC reprogramming: applications for a fully...
      The use of pluripotent stem cells is dramatically altering the R&D landscape, providing new insights into both the basic biology of disease progression and novel cell types for pharmaceut...
      Speaker: Daniel Paull
      Presented at: 6th annual 24 Hours of Stem Cellsâ„¢ virtual event
      1
      NOV 29, 2017 | 10:00 AM
      WEBINAR: RAS Oncoproteins: Therapeutic Vulnerabilities
      WEBINAR: RAS Oncoproteins: Therapeutic Vulnerabilities
      DATE: November 29, 2017TIME: 10:00 AM PSTThe three human RAS genes (HRAS, KRAS and NRAS) encode four highly related RAS small GTPases (HRAS, KRAS4A, KRAS4B and NRAS). RAS proteins funct...
      Speaker: Adrienne Cox, PhD
      Sponsored By: ACD - A Bio-Techne Brand
      7 2
      NOV 09, 2017 | 4:00 AM
      Human pluripotent stem cells in understanding genetic cardiovascular disease and effects of drugs
      Human pluripotent stem cells in understanding genetic cardiovascular...
      Derivation of many different cell types from human pluripotent stem cells (embryonic stem cells or HESCs and induced pluripotent stem cells or hiPS cells) is an area of growing interest both ...
      Speaker: Christine Mummery
      Presented at: 5th annual 24 Hours of Stem Cellsâ„¢ virtual event
      4 1
      NOV 08, 2017 | 1:30 PM
      Rapid Variant Interpretation and Reporting Using the QIAGEN Knowledgebase and QIAGEN Clinical Insight - Interpret (QCI-I)
      Rapid Variant Interpretation and Reporting Using the QIAGEN Knowledgebase...
      The advent of next generation sequencing has transformed the way we identify mutations with clinical implications. As the compendium of variants expands, gathering the most current and accura...
      Speaker: Jennifer Poitras, PhD
      Presented at: Clinical Diagnostics & Research Virtual Event Series 2017
      1
      NOV 08, 2017 | 12:00 PM
      Combined immunohistochemistry and RNA in situ hybridization to elucidate tumor molecular heterogeneity in prostate cancer
      Combined immunohistochemistry and RNA in situ hybridization to...
      Currently, prostate cancer is the second leading cause of death from cancer in North America, the most frequent malignancy in men from all ethnicities, surpassing lung cancer. Prostate tumors...
      Speaker: Nallasivam Palanisamy, PhD
      Presented at: Clinical Diagnostics & Research Virtual Event Series 2017
      Sponsored By: Advanced Cell Diagnostics
      3
      NOV 02, 2017 | 10:00 AM
      WEBINAR: A CRISPR Way of Making Mice
      WEBINAR: A CRISPR Way of Making Mice
      DATE: November 2, 2017TIME: 10:00am PDT, 1:00pm EDTA CRISPR Way of Making MiceThe bulk of genetic variation associated with human disease exists in the noncoding genome, much of whi...
      Speaker: Joe Miano, PhD
      Sponsored By: Synthego
      12 1
      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
      OCT 12, 2017 | 9:00 AM
      Profiling the cell surface of cancer cell lines for biomarker/drug target discovery using MS-based proteomics
      Profiling the cell surface of cancer cell lines for biomarker/drug...
      In order to expand the treatment options of cancers driven by oncogenic RAS, new cell surface targets need to be identified and characterized. Here, we describe mass spectrometry based phenot...
      Speaker: Josip Blonder, MD
      Presented at: Cancer Research & Oncology Week Virtual Event Series 2017
      3
      OCT 12, 2017 | 6:00 AM
      Inference of gene signatures associated with response and resistance to targeted and immunotherapies
      Inference of gene signatures associated with response and resistance...
      We developed two computational methods, CARE and TIDE, to predict response and resistance to targeted therapies and immunotherapies. CARE infers gene signatures of targeted therapy response b...
      Speaker: Xiaole Shirley Liu, PhD
      Presented at: Cancer Research & Oncology Week Virtual Event Series 2017
      1
      OCT 11, 2017 | 12:00 PM
      Examining Cancer with the minION: Methylation and Structural Variation
      Examining Cancer with the minION: Methylation and Structural Variation
      Nanopore sequencing has enormous potential for application to cancer, but specifically offers advantages into two main arenas, epigenetics and structural variation. Methylation is well-known...
      Speaker: Winston Timp, PhD
      Presented at: Cancer Research & Oncology Week Virtual Event Series 2017
      Sponsored By: Oxford Nanopore Technologies
      1
      OCT 11, 2017 | 6:00 AM
      A Pan-Cancer view of gene expression in Immuno-Oncology with particular applications in ovarian cancer
      A Pan-Cancer view of gene expression in Immuno-Oncology with particular...
      There has been a great deal of renewed attention in immuno-oncology over the last decade.   Therapies for cancer are being developed, approved, and administered that can either initiate,...
      Speaker: Wendell Jones, PhD
      Presented at: Cancer Research & Oncology Week Virtual Event Series 2017
      2
      SEP 27, 2017 | 12:00 PM
      Enhancing Checkpoint Blockade in Lymphoma with In Situ Vaccination
      Enhancing Checkpoint Blockade in Lymphoma with In Situ Vaccination
      Checkpoint blockade therapy for cancer has had tremendous impact on clinical outcomes, yet only a subset of patients respond. Recent studies show that response to checkpoint blockade does not...
      Speaker: Joshua Brody, MD
      Presented at: Cell Biology Virtual Event Series 2017
      2
      SEP 27, 2017 | 12:00 PM
      CRISPR-Cas9 genome engineering: Experimental Design and Applications
      CRISPR-Cas9 genome engineering: Experimental Design and Applications
      The manipulation of the genome to study disease, evaluate drug targets and to stratify patient populations is now a widely accepted concept in the field. At Horizon Discovery, genome engineer...
      Speaker: Danielle Folkard
      Presented at: Cell Biology Virtual Event Series 2017
      Sponsored By: Horizon Discovery
      2
      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
      SEP 14, 2017 | 7:30 AM
      Keynote Presentation: A Mechanistic Approach to Overcoming Antibacterial Drug Resistance
      Keynote Presentation: A Mechanistic Approach to Overcoming Antibacterial...
      Quinolones are one the most commonly prescribed classes of antibacterials in the world and are used to treat a broad variety of Gram-negative and Gram-positive bacterial infections in humans....
      Speaker: Neil Osheroff, PhD
      Presented at: Microbiology & Immunology Virtual Event Series 2017
      1
      AUG 01, 2017 | 12:00 AM
      Accelerating cures for rare childhood diseases using iPSC models
      Accelerating cures for rare childhood diseases using iPSC models
      Creating inducible Pluripotent Stem Cell (iPSC) collections of rare patients scattered world-wide can lower the barrier of biological discovery of rare disease, provide a platform for potenti...
      Speaker: Christina Waters
      Presented at: 6th annual 24 Hours of Stem Cellsâ„¢ virtual event
      1
      JUL 21, 2017 | 10:00 AM
      WEBINAR: CRISPR/Cas9: Moving from Founder Mice to Phenotyping
      WEBINAR: CRISPR/Cas9: Moving from Founder Mice to Phenotyping
      DATE: July 21, 2017TIME: 10:00am PT, 1:00pm ETCRISPR/Cas9 techniques are quickly growing in popularity for the generation of new mouse models for research. Though the approach is relati...
      Speaker: David Grass, PhD
      Sponsored By: The Jackson Laboratory (JAX)
      10
      JUL 01, 2017 | 8:00 AM
      iPSC-derived neural cells for drug discovery of mitochondrial brain diseases
      iPSC-derived neural cells for drug discovery of mitochondrial...
      Mitochondrial defects represent a common pathogenetic mechanism associated with neurodegeneration. At the same time, mitochondrial DNA (mtDNA) mutations frequently cause neurological diseases...
      Speaker: Alessandro Prigione
      Presented at: 5th annual 24 Hours of Stem Cellsâ„¢ virtual event
      2
      JUL 01, 2017 | 8:00 AM
      Patient-specific hiPSCs for understanding diabetes disease mechanisms
      Patient-specific hiPSCs for understanding diabetes disease mechanisms
      Diabetes is a debilitating chronic disease that is spirally out of control. Fundamentally, the progressive failure of pancreatic beta cells results in decreased insulin secretion, ultimately ...
      Speaker: Adrian Teo
      Presented at: 5th annual 24 Hours of Stem Cellsâ„¢ virtual event
      3
      JUL 01, 2017 | 12:00 AM
      Pluripotent stem cells to explore mechanisms and treatments of neuromuscular diseases
      Pluripotent stem cells to explore mechanisms and treatments of...
      Disease-specific human pluripotent stem cells (hPSCs) represent a new chance to unravel cellular and molecular mechanisms of neurological diseases. Along this line, we were among the first to...
      Speaker: Cécile Martinat
      Presented at: 5th annual 24 Hours of Stem Cellsâ„¢ virtual event
      2
      JUN 28, 2017 | 10:30 AM
      WEBINAR: Variant detection in cell-free DNA from NSCLC using NGS
      WEBINAR: Variant detection in cell-free DNA from NSCLC using NGS
      DATE: June 28, 2017TIME: 10:30am PT, 1:30pm ETThis webinar will describe the implementation of the Oncomine Lung cfDNA Assay from Thermo Fisher Scientific in the Advanced Molecular...
      Speaker: Tracy Stockley PhD, FCCMG, FACMG
      Sponsored By: Thermo Fisher Scientific - Ion Torrent
      6 1
      JUN 08, 2017 | 12:00 PM
      Improved CRISPR Cas9 Editing of Pluripotent Stem Cells Utilizing the Latest Technologies from Thermo Fisher Scientific
      Improved CRISPR Cas9 Editing of Pluripotent Stem Cells Utilizing...
      The emergence of technology for development of induced pluripotent stem cells (iPSCs) from somatic cells, such as skin and blood cells, has resulted in the ability of researchers to have limi...
      Speaker: Rhonda Newman, PhD
      Presented at: 4th Annual 24 Hours of Stem Cellsâ„¢ virtual event
      3
      JUN 08, 2017 | 10:00 AM
      WEBINAR: Analysis of the transcriptome of carriers of pathological variants in PSEN1, PSEN2 and APP that cause Alzheimer's Disease
      WEBINAR: Analysis of the transcriptome of carriers of pathological...
      DATE: June 8, 2017TIME: 10:00AM PDT, 1:00PM EDT, 7:00PM CESTAlzheimer’s Disease (AD) is the result of complex interactions between risk factors that cause pleiotropic changes in m...
      Speaker: Oscar Harari, PhD
      Sponsored By: Lexogen
      6
      MAY 11, 2017 | 10:30 AM
      C.E. CREDITS
      Functional Characterization of Gene Regulatory Elements
      Functional Characterization of Gene Regulatory Elements
      Nucleotide variation in gene regulatory elements is a major cause of human disease. Despite continual progress in the cataloging of these elements, little is known about the code and grammati...
      Speaker: Nadav Ahituv, PhD
      Presented at: Genetics and Genomics Virtual Event Series 2017
      1
    DEC 01, 2017 | 12:00 AM
    Beyond Automated iPSC reprogramming: applications for a fully automated cell culture system for pluripotent stem cell research
    Beyond Automated iPSC reprogramming: applications for a fully...
    The use of pluripotent stem cells is dramatically altering the R&D landscape, providing new insights into both the basic biology of disease progression and novel cell types for pharmaceut...
    Speaker: Daniel Paull
    Presented at: 6th annual 24 Hours of Stem Cellsâ„¢ virtual event
    1
    NOV 29, 2017 | 10:00 AM
    WEBINAR: RAS Oncoproteins: Therapeutic Vulnerabilities
    WEBINAR: RAS Oncoproteins: Therapeutic Vulnerabilities
    DATE: November 29, 2017TIME: 10:00 AM PSTThe three human RAS genes (HRAS, KRAS and NRAS) encode four highly related RAS small GTPases (HRAS, KRAS4A, KRAS4B and NRAS). RAS proteins funct...
    Speaker: Adrienne Cox, PhD
    Sponsored By: ACD - A Bio-Techne Brand
    7 2
    NOV 09, 2017 | 4:00 AM
    Human pluripotent stem cells in understanding genetic cardiovascular disease and effects of drugs
    Human pluripotent stem cells in understanding genetic cardiovascular...
    Derivation of many different cell types from human pluripotent stem cells (embryonic stem cells or HESCs and induced pluripotent stem cells or hiPS cells) is an area of growing interest both ...
    Speaker: Christine Mummery
    Presented at: 5th annual 24 Hours of Stem Cellsâ„¢ virtual event
    4 1
    NOV 08, 2017 | 1:30 PM
    Rapid Variant Interpretation and Reporting Using the QIAGEN Knowledgebase and QIAGEN Clinical Insight - Interpret (QCI-I)
    Rapid Variant Interpretation and Reporting Using the QIAGEN Knowledgebase...
    The advent of next generation sequencing has transformed the way we identify mutations with clinical implications. As the compendium of variants expands, gathering the most current and accura...
    Speaker: Jennifer Poitras, PhD
    Presented at: Clinical Diagnostics & Research Virtual Event Series 2017
    1
    NOV 08, 2017 | 12:00 PM
    Combined immunohistochemistry and RNA in situ hybridization to elucidate tumor molecular heterogeneity in prostate cancer
    Combined immunohistochemistry and RNA in situ hybridization to...
    Currently, prostate cancer is the second leading cause of death from cancer in North America, the most frequent malignancy in men from all ethnicities, surpassing lung cancer. Prostate tumors...
    Speaker: Nallasivam Palanisamy, PhD
    Presented at: Clinical Diagnostics & Research Virtual Event Series 2017
    Sponsored By: Advanced Cell Diagnostics
    3
     
     
  • NOV 02, 2017 | 10:00 AM
    WEBINAR: A CRISPR Way of Making Mice
    WEBINAR: A CRISPR Way of Making Mice
    DATE: November 2, 2017TIME: 10:00am PDT, 1:00pm EDTA CRISPR Way of Making MiceThe bulk of genetic variation associated with human disease exists in the noncoding genome, much of whi...
    Speaker: Joe Miano, PhD
    Sponsored By: Synthego
    12 1
    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
    OCT 12, 2017 | 9:00 AM
    Profiling the cell surface of cancer cell lines for biomarker/drug target discovery using MS-based proteomics
    Profiling the cell surface of cancer cell lines for biomarker/drug...
    In order to expand the treatment options of cancers driven by oncogenic RAS, new cell surface targets need to be identified and characterized. Here, we describe mass spectrometry based phenot...
    Speaker: Josip Blonder, MD
    Presented at: Cancer Research & Oncology Week Virtual Event Series 2017
    3
    OCT 12, 2017 | 6:00 AM
    Inference of gene signatures associated with response and resistance to targeted and immunotherapies
    Inference of gene signatures associated with response and resistance...
    We developed two computational methods, CARE and TIDE, to predict response and resistance to targeted therapies and immunotherapies. CARE infers gene signatures of targeted therapy response b...
    Speaker: Xiaole Shirley Liu, PhD
    Presented at: Cancer Research & Oncology Week Virtual Event Series 2017
    1
    OCT 11, 2017 | 12:00 PM
    Examining Cancer with the minION: Methylation and Structural Variation
    Examining Cancer with the minION: Methylation and Structural Variation
    Nanopore sequencing has enormous potential for application to cancer, but specifically offers advantages into two main arenas, epigenetics and structural variation. Methylation is well-known...
    Speaker: Winston Timp, PhD
    Presented at: Cancer Research & Oncology Week Virtual Event Series 2017
    Sponsored By: Oxford Nanopore Technologies
    1
     
     
  • OCT 11, 2017 | 6:00 AM
    A Pan-Cancer view of gene expression in Immuno-Oncology with particular applications in ovarian cancer
    A Pan-Cancer view of gene expression in Immuno-Oncology with particular...
    There has been a great deal of renewed attention in immuno-oncology over the last decade.   Therapies for cancer are being developed, approved, and administered that can either initiate,...
    Speaker: Wendell Jones, PhD
    Presented at: Cancer Research & Oncology Week Virtual Event Series 2017
    2
    SEP 27, 2017 | 12:00 PM
    Enhancing Checkpoint Blockade in Lymphoma with In Situ Vaccination
    Enhancing Checkpoint Blockade in Lymphoma with In Situ Vaccination
    Checkpoint blockade therapy for cancer has had tremendous impact on clinical outcomes, yet only a subset of patients respond. Recent studies show that response to checkpoint blockade does not...
    Speaker: Joshua Brody, MD
    Presented at: Cell Biology Virtual Event Series 2017
    2
    SEP 27, 2017 | 12:00 PM
    CRISPR-Cas9 genome engineering: Experimental Design and Applications
    CRISPR-Cas9 genome engineering: Experimental Design and Applications
    The manipulation of the genome to study disease, evaluate drug targets and to stratify patient populations is now a widely accepted concept in the field. At Horizon Discovery, genome engineer...
    Speaker: Danielle Folkard
    Presented at: Cell Biology Virtual Event Series 2017
    Sponsored By: Horizon Discovery
    2
    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
    SEP 14, 2017 | 7:30 AM
    Keynote Presentation: A Mechanistic Approach to Overcoming Antibacterial Drug Resistance
    Keynote Presentation: A Mechanistic Approach to Overcoming Antibacterial...
    Quinolones are one the most commonly prescribed classes of antibacterials in the world and are used to treat a broad variety of Gram-negative and Gram-positive bacterial infections in humans....
    Speaker: Neil Osheroff, PhD
    Presented at: Microbiology & Immunology Virtual Event Series 2017
    1
     
     
  • AUG 01, 2017 | 12:00 AM
    Accelerating cures for rare childhood diseases using iPSC models
    Accelerating cures for rare childhood diseases using iPSC models
    Creating inducible Pluripotent Stem Cell (iPSC) collections of rare patients scattered world-wide can lower the barrier of biological discovery of rare disease, provide a platform for potenti...
    Speaker: Christina Waters
    Presented at: 6th annual 24 Hours of Stem Cellsâ„¢ virtual event
    1
    JUL 21, 2017 | 10:00 AM
    WEBINAR: CRISPR/Cas9: Moving from Founder Mice to Phenotyping
    WEBINAR: CRISPR/Cas9: Moving from Founder Mice to Phenotyping
    DATE: July 21, 2017TIME: 10:00am PT, 1:00pm ETCRISPR/Cas9 techniques are quickly growing in popularity for the generation of new mouse models for research. Though the approach is relati...
    Speaker: David Grass, PhD
    Sponsored By: The Jackson Laboratory (JAX)
    10
    JUL 01, 2017 | 8:00 AM
    iPSC-derived neural cells for drug discovery of mitochondrial brain diseases
    iPSC-derived neural cells for drug discovery of mitochondrial...
    Mitochondrial defects represent a common pathogenetic mechanism associated with neurodegeneration. At the same time, mitochondrial DNA (mtDNA) mutations frequently cause neurological diseases...
    Speaker: Alessandro Prigione
    Presented at: 5th annual 24 Hours of Stem Cellsâ„¢ virtual event
    2
    JUL 01, 2017 | 8:00 AM
    Patient-specific hiPSCs for understanding diabetes disease mechanisms
    Patient-specific hiPSCs for understanding diabetes disease mechanisms
    Diabetes is a debilitating chronic disease that is spirally out of control. Fundamentally, the progressive failure of pancreatic beta cells results in decreased insulin secretion, ultimately ...
    Speaker: Adrian Teo
    Presented at: 5th annual 24 Hours of Stem Cellsâ„¢ virtual event
    3
    JUL 01, 2017 | 12:00 AM
    Pluripotent stem cells to explore mechanisms and treatments of neuromuscular diseases
    Pluripotent stem cells to explore mechanisms and treatments of...
    Disease-specific human pluripotent stem cells (hPSCs) represent a new chance to unravel cellular and molecular mechanisms of neurological diseases. Along this line, we were among the first to...
    Speaker: Cécile Martinat
    Presented at: 5th annual 24 Hours of Stem Cellsâ„¢ virtual event
    2
     
     
  • JUN 28, 2017 | 10:30 AM
    WEBINAR: Variant detection in cell-free DNA from NSCLC using NGS
    WEBINAR: Variant detection in cell-free DNA from NSCLC using NGS
    DATE: June 28, 2017TIME: 10:30am PT, 1:30pm ETThis webinar will describe the implementation of the Oncomine Lung cfDNA Assay from Thermo Fisher Scientific in the Advanced Molecular...
    Speaker: Tracy Stockley PhD, FCCMG, FACMG
    Sponsored By: Thermo Fisher Scientific - Ion Torrent
    6 1
    JUN 08, 2017 | 12:00 PM
    Improved CRISPR Cas9 Editing of Pluripotent Stem Cells Utilizing the Latest Technologies from Thermo Fisher Scientific
    Improved CRISPR Cas9 Editing of Pluripotent Stem Cells Utilizing...
    The emergence of technology for development of induced pluripotent stem cells (iPSCs) from somatic cells, such as skin and blood cells, has resulted in the ability of researchers to have limi...
    Speaker: Rhonda Newman, PhD
    Presented at: 4th Annual 24 Hours of Stem Cellsâ„¢ virtual event
    3
    JUN 08, 2017 | 10:00 AM
    WEBINAR: Analysis of the transcriptome of carriers of pathological variants in PSEN1, PSEN2 and APP that cause Alzheimer's Disease
    WEBINAR: Analysis of the transcriptome of carriers of pathological...
    DATE: June 8, 2017TIME: 10:00AM PDT, 1:00PM EDT, 7:00PM CESTAlzheimer’s Disease (AD) is the result of complex interactions between risk factors that cause pleiotropic changes in m...
    Speaker: Oscar Harari, PhD
    Sponsored By: Lexogen
    6
    MAY 11, 2017 | 10:30 AM
    C.E. CREDITS
    Functional Characterization of Gene Regulatory Elements
    Functional Characterization of Gene Regulatory Elements
    Nucleotide variation in gene regulatory elements is a major cause of human disease. Despite continual progress in the cataloging of these elements, little is known about the code and grammati...
    Speaker: Nadav Ahituv, PhD
    Presented at: Genetics and Genomics Virtual Event Series 2017
    1
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