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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

    • OCT 06, 2016 | 7:30 AM
      Keynote Speaker: Reference Component Analysis of Single Cell Transcriptomes Reveals Cellular Heterogeneity in Colorectal Cancer
      Keynote Speaker: Reference Component Analysis of Single Cell Transcriptomes...
      Intra-tumor heterogeneity is a major obstacle to cancer treatment. Existing single-cell studies of intra-tumor heterogeneity have largely focused on DNA mutations; functional heterogeneity is...
      Speaker: Shyam Prabhakar, PhD
      Presented at: Cancer Research & Oncology Week Virtual Event Series 2016
      2
      OCT 05, 2016 | 12:00 PM
      Sensitive and Specific, Multiplex, Real-Time PCR Assays for Assessing the Abundance  of Extremely Rare Mutations Associated with Cancer Diagnosis, Prognosis, and Therapy
      Sensitive and Specific, Multiplex, Real-Time PCR Assays for Assessing...
      Real-time multiplex PCR assays are potentially the most rapid, most sensitive,and least expensive way to assess the abundance of mutant DNA fragments present in liquid biopsies; provided th...
      Speaker: Fred Kramer, PhD
      Presented at: Cancer Research & Oncology Week Virtual Event Series 2016
      2
      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
      Elucidating the physiological function of cellular PrPC using human iPS cel
      Elucidating the physiological function of cellular PrPC using...
      PrPC is a conserved lipid-raft associated, GPI-anchored cell membrane glycoprotein. Misfolding of cellular PrPC into the pathogenic PrPSc results in Prion disease, an untreatable and fatal ne...
      Speaker: Vijay Chandrasekar, PhD
      Presented at: 4th Annual 24 Hours of Stem Cellsâ„¢ virtual event
      2
      AUG 30, 2016 | 8:00 AM
      Human PSC-based disease modeling to study X-linked Dystonia-Parkinsonism
      Human PSC-based disease modeling to study X-linked Dystonia-Parkinsonism
      The isolation of human embryonic stem cells (hESCs) and the discovery of human induced pluripotent stem cell (hiPSC) reprogramming have sparked a renaissance in stem cell biology, in vitro di...
      Speaker: William Hendriks
      Presented at: 4th Annual 24 Hours of Stem Cellsâ„¢ virtual event
      1
      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 Cellsâ„¢ virtual event
      1
      AUG 30, 2016 | 8:00 AM
      From urine to the study of metabolic disease - A patient-driven strategy to decipher PCSK9 roles and functions.
      From urine to the study of metabolic disease - A patient-driven...
      In the last 10 years, PCSK9 emerged as a promising target for the treatment of autosomal dominant hypercholesterolemia (ADH). With the emergence of induced pluripotent stem (hiPS) cells and f...
      Speaker: Karim Si-Tayeb, PhD
      Presented at: 4th Annual 24 Hours of Stem Cellsâ„¢ virtual event
      2
      AUG 11, 2016 | 11:00 AM
      RNA-ISH for Long non-coding RNAs - new game changers in pathology
      RNA-ISH for Long non-coding RNAs - new game changers in pathology
      DATE: August 11, 2016 TIME: 11:00AM PST, 2:00PM ET, 7:00PM GMT The central dogma that forms the backbone of molecular biology is that DNA codes for RNA (transcription) which then c...
      Speaker: Rohit Mehra, M.D.
      Sponsored By: Advanced Cell Diagnostics, Advanced Cell Diagnostics
      12
      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 12, 2016 | 10:30 AM
      C.E. CREDITS
      Big data integration - Inferring and using individual patient network models
      Big data integration - Inferring and using individual patient...
      The biological state of the cell is characterized by a complex network of interacting genes, gene products, proteins, microRNAs, as well as other molecules. Microarrays and next generation se...
      Speaker: Marieke Kuijjer, PhD
      Presented at: Genetics and Genomics Virtual Event Series 2016
      5
      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 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 | 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
      APR 06, 2016 | 6:00 AM
      EFIRM Liquid Biopsy
      EFIRM Liquid Biopsy
      The advent of personalized medicine employing molecular targeted therapies has markedly changed the treatment of cancer in the past 10 years. Although tumor tissue biopsy-based genotyping is...
      Speaker: David Wong DMD, DMSc
      Presented at: Molecular Diagnostics Virtual Event Series 2016
      5 1
      MAR 31, 2016 | 8:00 AM
      Optimizing homology-directed repair (HDR) results with CRISPR-Cas9
      Optimizing homology-directed repair (HDR) results with CRISPR-Cas9
      DATE:  March 31, 2016 TIME:   8am PT, 11am ET, 4pm GMT In this webinar, you will learn:  Basics of homology-directed repair (HDR) using CRISPR-Cas9 Selection of CRISP...
      Speaker: John Schiel, Ph.D.
      Sponsored By: Dharmacon, Dharmacon
      31 12
      FEB 24, 2016 | 2:00 PM
      Why we should clinically classify genotypes, not variants
      Why we should clinically classify genotypes, not variants
      A century and a half after we first probed heritability, we risk forgetting one of Mendel's own basic findings, in rushing to broaden clinical genomics to lifelong care for all. Embracing...
      Speaker: Nathaniel Pearson, PhD
      Presented at: Precision Medicine Virtual Event Series 2016
      2
      FEB 24, 2016 | 6:00 AM
      Emerging role of liquid biopsies and NGS for biomarker discovery
      Emerging role of liquid biopsies and NGS for biomarker discovery
      Precision medicine promises a more effective approach to disease treatment and management. It is based on analyzing mutations of disease samples to unlock mechanisms of disease development an...
      Speaker: Raed Samara, PhD
      Presented at: Precision Medicine Virtual Event Series 2016
      2
      NOV 11, 2015 | 6:00 AM
      Clinical next-generation sequencing for precision cancer therapeutics
      Clinical next-generation sequencing for precision cancer therapeutics
      Next-generation sequencing has emerged as a valuable tool for generating patient-specific genetic information for clinical diagnostics and optimal selection of targeted therapies. The heterog...
      Speaker: Christina (Tina) Lockwood, PhD, DABCC, FACB
      Presented at: Clinical Diagnostics & Research Virtual Event Series 2015
      2
      NOV 11, 2015 | 6:00 AM
      Next-generation sequencing for BRCA1 and BRCA2 mutation testing
      Next-generation sequencing for BRCA1 and BRCA2 mutation testing
      Cancer is complex, but recent findings are yielding a greater understanding of the disease. The tumor suppressor genes BRCA1 and BRCA2 are implicated in breast, ovarian, prostate, and other c...
      Speaker: Raed Samara, PhD
      Presented at: Clinical Diagnostics & Research Virtual Event Series 2015
      2
      SEP 09, 2015 | 9:00 AM
      WEBINAR: Clinically actionable gene fusions, CNVs and SNVs detected by NGS-based comprehensive profiling
      WEBINAR: Clinically actionable gene fusions, CNVs and SNVs detected...
      DATE: September 9, 2015TIME: 9:00am PDT, 12:00PM EDTDriver mutations are causally implicated in tumorigenesis and disease progression, and they are defined by molecular abnormalities such as ...
      Speaker: A. John Iafrate, MD, PhD
      Sponsored By: Archer DX, Archer DX
      7 1
      JUN 10, 2015 | 2:00 PM
      Personalized medicine
      Personalized medicine
      Matching the mutational profile of a patient's tumor with appropriate targeted agents is a goal of personalized medicine in oncology. The number of FDA-approved targeted therapies, as well as...
      Speaker: Stephen Lyle, MD, PhD
      Presented at: Cardinal Health labXchange
      Sponsored By: Cardinal Healthâ„¢ OptiFreight® Logistics
      2
      MAY 14, 2015 | 1:30 PM
      Germline Cancer Genetics in 2015
      Germline Cancer Genetics in 2015
      Germline cancer genetics became a reality with the cloning of the tumor suppressor gene RB1 for hereditary retinoblastoma in 1986 by Friend and Weinberg. The existence of cancer susceptibili...
      Speaker: Judy E Garber, MD, MPH
      Presented at: Genetics and Genomics Virtual Event Series 2015
      4
      MAY 14, 2015 | 6:00 AM
      Next-generation sequencing for BRCA1 and BRCA2 mutation testing
      Next-generation sequencing for BRCA1 and BRCA2 mutation testing
      Cancer is complex, but recent findings are yielding a greater understanding of the disease. The tumor suppressor genes BRCA1 and BRCA2 are implicated in breast, ovarian, prostate, and other c...
      Speaker: Vikram Devgan, PhD, MBA
      Presented at: Genetics and Genomics Virtual Event Series 2015
      3
    OCT 06, 2016 | 7:30 AM
    Keynote Speaker: Reference Component Analysis of Single Cell Transcriptomes Reveals Cellular Heterogeneity in Colorectal Cancer
    Keynote Speaker: Reference Component Analysis of Single Cell Transcriptomes...
    Intra-tumor heterogeneity is a major obstacle to cancer treatment. Existing single-cell studies of intra-tumor heterogeneity have largely focused on DNA mutations; functional heterogeneity is...
    Speaker: Shyam Prabhakar, PhD
    Presented at: Cancer Research & Oncology Week Virtual Event Series 2016
    2
    OCT 05, 2016 | 12:00 PM
    Sensitive and Specific, Multiplex, Real-Time PCR Assays for Assessing the Abundance  of Extremely Rare Mutations Associated with Cancer Diagnosis, Prognosis, and Therapy
    Sensitive and Specific, Multiplex, Real-Time PCR Assays for Assessing...
    Real-time multiplex PCR assays are potentially the most rapid, most sensitive,and least expensive way to assess the abundance of mutant DNA fragments present in liquid biopsies; provided th...
    Speaker: Fred Kramer, PhD
    Presented at: Cancer Research & Oncology Week Virtual Event Series 2016
    2
    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
    Elucidating the physiological function of cellular PrPC using human iPS cel
    Elucidating the physiological function of cellular PrPC using...
    PrPC is a conserved lipid-raft associated, GPI-anchored cell membrane glycoprotein. Misfolding of cellular PrPC into the pathogenic PrPSc results in Prion disease, an untreatable and fatal ne...
    Speaker: Vijay Chandrasekar, PhD
    Presented at: 4th Annual 24 Hours of Stem Cellsâ„¢ virtual event
    2
    AUG 30, 2016 | 8:00 AM
    Human PSC-based disease modeling to study X-linked Dystonia-Parkinsonism
    Human PSC-based disease modeling to study X-linked Dystonia-Parkinsonism
    The isolation of human embryonic stem cells (hESCs) and the discovery of human induced pluripotent stem cell (hiPSC) reprogramming have sparked a renaissance in stem cell biology, in vitro di...
    Speaker: William Hendriks
    Presented at: 4th Annual 24 Hours of Stem Cellsâ„¢ virtual event
    1
     
     
  • 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 Cellsâ„¢ virtual event
    1
    AUG 30, 2016 | 8:00 AM
    From urine to the study of metabolic disease - A patient-driven strategy to decipher PCSK9 roles and functions.
    From urine to the study of metabolic disease - A patient-driven...
    In the last 10 years, PCSK9 emerged as a promising target for the treatment of autosomal dominant hypercholesterolemia (ADH). With the emergence of induced pluripotent stem (hiPS) cells and f...
    Speaker: Karim Si-Tayeb, PhD
    Presented at: 4th Annual 24 Hours of Stem Cellsâ„¢ virtual event
    2
    AUG 11, 2016 | 11:00 AM
    RNA-ISH for Long non-coding RNAs - new game changers in pathology
    RNA-ISH for Long non-coding RNAs - new game changers in pathology
    DATE: August 11, 2016 TIME: 11:00AM PST, 2:00PM ET, 7:00PM GMT The central dogma that forms the backbone of molecular biology is that DNA codes for RNA (transcription) which then c...
    Speaker: Rohit Mehra, M.D.
    Sponsored By: Advanced Cell Diagnostics, Advanced Cell Diagnostics
    12
    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 12, 2016 | 10:30 AM
    C.E. CREDITS
    Big data integration - Inferring and using individual patient network models
    Big data integration - Inferring and using individual patient...
    The biological state of the cell is characterized by a complex network of interacting genes, gene products, proteins, microRNAs, as well as other molecules. Microarrays and next generation se...
    Speaker: Marieke Kuijjer, PhD
    Presented at: Genetics and Genomics Virtual Event Series 2016
    5
     
     
  • 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 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 | 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
    APR 06, 2016 | 6:00 AM
    EFIRM Liquid Biopsy
    EFIRM Liquid Biopsy
    The advent of personalized medicine employing molecular targeted therapies has markedly changed the treatment of cancer in the past 10 years. Although tumor tissue biopsy-based genotyping is...
    Speaker: David Wong DMD, DMSc
    Presented at: Molecular Diagnostics Virtual Event Series 2016
    5 1
     
     
  • MAR 31, 2016 | 8:00 AM
    Optimizing homology-directed repair (HDR) results with CRISPR-Cas9
    Optimizing homology-directed repair (HDR) results with CRISPR-Cas9
    DATE:  March 31, 2016 TIME:   8am PT, 11am ET, 4pm GMT In this webinar, you will learn:  Basics of homology-directed repair (HDR) using CRISPR-Cas9 Selection of CRISP...
    Speaker: John Schiel, Ph.D.
    Sponsored By: Dharmacon, Dharmacon
    31 12
    FEB 24, 2016 | 2:00 PM
    Why we should clinically classify genotypes, not variants
    Why we should clinically classify genotypes, not variants
    A century and a half after we first probed heritability, we risk forgetting one of Mendel's own basic findings, in rushing to broaden clinical genomics to lifelong care for all. Embracing...
    Speaker: Nathaniel Pearson, PhD
    Presented at: Precision Medicine Virtual Event Series 2016
    2
    FEB 24, 2016 | 6:00 AM
    Emerging role of liquid biopsies and NGS for biomarker discovery
    Emerging role of liquid biopsies and NGS for biomarker discovery
    Precision medicine promises a more effective approach to disease treatment and management. It is based on analyzing mutations of disease samples to unlock mechanisms of disease development an...
    Speaker: Raed Samara, PhD
    Presented at: Precision Medicine Virtual Event Series 2016
    2
    NOV 11, 2015 | 6:00 AM
    Clinical next-generation sequencing for precision cancer therapeutics
    Clinical next-generation sequencing for precision cancer therapeutics
    Next-generation sequencing has emerged as a valuable tool for generating patient-specific genetic information for clinical diagnostics and optimal selection of targeted therapies. The heterog...
    Speaker: Christina (Tina) Lockwood, PhD, DABCC, FACB
    Presented at: Clinical Diagnostics & Research Virtual Event Series 2015
    2
    NOV 11, 2015 | 6:00 AM
    Next-generation sequencing for BRCA1 and BRCA2 mutation testing
    Next-generation sequencing for BRCA1 and BRCA2 mutation testing
    Cancer is complex, but recent findings are yielding a greater understanding of the disease. The tumor suppressor genes BRCA1 and BRCA2 are implicated in breast, ovarian, prostate, and other c...
    Speaker: Raed Samara, PhD
    Presented at: Clinical Diagnostics & Research Virtual Event Series 2015
    2
     
     
  • SEP 09, 2015 | 9:00 AM
    WEBINAR: Clinically actionable gene fusions, CNVs and SNVs detected by NGS-based comprehensive profiling
    WEBINAR: Clinically actionable gene fusions, CNVs and SNVs detected...
    DATE: September 9, 2015TIME: 9:00am PDT, 12:00PM EDTDriver mutations are causally implicated in tumorigenesis and disease progression, and they are defined by molecular abnormalities such as ...
    Speaker: A. John Iafrate, MD, PhD
    Sponsored By: Archer DX, Archer DX
    7 1
    JUN 10, 2015 | 2:00 PM
    Personalized medicine
    Personalized medicine
    Matching the mutational profile of a patient's tumor with appropriate targeted agents is a goal of personalized medicine in oncology. The number of FDA-approved targeted therapies, as well as...
    Speaker: Stephen Lyle, MD, PhD
    Presented at: Cardinal Health labXchange
    Sponsored By: Cardinal Healthâ„¢ OptiFreight® Logistics
    2
    MAY 14, 2015 | 1:30 PM
    Germline Cancer Genetics in 2015
    Germline Cancer Genetics in 2015
    Germline cancer genetics became a reality with the cloning of the tumor suppressor gene RB1 for hereditary retinoblastoma in 1986 by Friend and Weinberg. The existence of cancer susceptibili...
    Speaker: Judy E Garber, MD, MPH
    Presented at: Genetics and Genomics Virtual Event Series 2015
    4
    MAY 14, 2015 | 6:00 AM
    Next-generation sequencing for BRCA1 and BRCA2 mutation testing
    Next-generation sequencing for BRCA1 and BRCA2 mutation testing
    Cancer is complex, but recent findings are yielding a greater understanding of the disease. The tumor suppressor genes BRCA1 and BRCA2 are implicated in breast, ovarian, prostate, and other c...
    Speaker: Vikram Devgan, PhD, MBA
    Presented at: Genetics and Genomics Virtual Event Series 2015
    3
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