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Point Mutation: A mutation caused by the substitution of one nucleotide for another. This results in the DNA molecule having a change in a single base pair.

Identifying DNA Mutations in Purified Hematopoietic Stem/Progenitor Cells

1Greehey Children's Cancer Research Institute, UT Health Science Center at San Antonio, 2Department of Cellular and Structural Biology, UT Health Science Center at San Antonio, 3Department of Pathology, UT Health Science Center at San Antonio, 4Department of Microbiology, UT Health Science Center at San Antonio, 5Cancer Therapy and Research Center, UT Health Science Center at San Antonio

JoVE 50752


 Immunology and Infection

Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors

1Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, 2Division of Hematology/Oncology, Department of Medicine, Perelman School of Medicine, University of Pennsylvania, 3Abramson Cancer Center

JoVE 52758


 Cancer Research

Forskolin-induced Swelling in Intestinal Organoids: An In Vitro Assay for Assessing Drug Response in Cystic Fibrosis Patients

1Foundation Hubrecht Organoid Technology, 2Department of Pediatric Pulmonology, Regenerative Medicine Centre Utrecht, Wilhelmina Children's Hospital, University Medical Centre Utrecht, 3Department of Stem Cells and Cancer, Walter and Eliza Hall Institute of Medical Research, 4Hubrecht Institute for Developmental Biology and Stem Cell Research, University Medical Centre Utrecht

JoVE 55159


 Medicine

Pairwise Growth Competition Assay for Determining the Replication Fitness of Human Immunodeficiency Viruses

1Department of Microbiology, University of Washington, 2Departments of Medicine and Laboratory Medicine, University of Washington, 3U.S Military HIV Research Program, Walter Reed Army Institute of Research, 4Henry M. Jackson Foundation

JoVE 52610


 Immunology and Infection

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

1University of Florence, 2INSERM INMED, 3Aix-Marseille University, 4Plateforme Biologie Moléculaire et Cellulaire INMED, 5Royal Children's Hospital, 6Murdoch Children's Research Institute, 7University of Melbourne, 8Plateforme postgenomique INMED, 9University of Pavia, 10Wellcome Trust Centre for Human Genetics, 11Oxford Radcliffe NHS Trust, 12IRCCS Casimiro Mondino Foundation, 13Research Institute of Molecular Pathology, 14IRCCS Stella Maris, 15Columbia University

JoVE 53570


 Neuroscience

A Combined 3D Tissue Engineered In Vitro/In Silico Lung Tumor Model for Predicting Drug Effectiveness in Specific Mutational Backgrounds

1Department of Tissue Engineering and Regenerative Medicine (TERM), University Hospital Wuerzburg, 2Department of Cardiothoracic Surgery, University Hospital Wuerzburg, 3Department of Bioinformatics, University Wuerzburg, 4Translational Center Wuerzburg, Fraunhofer Institute Interfacial Engineering and Biotechnology IGB

JoVE 53885


 Bioengineering

CRISPR/Cas9-Mediated Targeted Integration In Vivo Using a Homology-Mediated End Joining-Based Strategy

1Institute of Neuroscience, State Key Laboratory of Neuroscience, Key Laboratory of Primate Neurobiology, CAS Center for Excellence in Brain Science and Intelligence Technology, Shanghai Institutes for Biological Sciences, Chinese Academy of Sciences, 2College of Life Sciences, University of Chinese Academy of Sciences, 3School of Life Science and Technology, Shanghai Tech University, 4Institute of Biochemistry and Cell Biology, Shanghai Institutes for Biological Sciences, Chinese Academy of Sciences

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JoVE 56844


 JoVE In-Press

Rapid and Efficient Zebrafish Genotyping Using PCR with High-resolution Melt Analysis

1Division of Pediatric Neurology, Department of Pediatrics, University of Utah School of Medicine, 2Department of Neurobiology and Anatomy, University of Utah School of Medicine, 3Interdepartmental Program in Neurosciences, University of Utah School of Medicine, 4Mutation Generation and Detection Core, HSC Core Research Facility, University of Utah School of Medicine, 5Department of Neurology, University of Utah School of Medicine

JoVE 51138


 Biology

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