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Polymorphism, Single Nucleotide: A single nucleotide variation in a genetic sequence that occurs at appreciable frequency in the population.

Methods to Increase the Sensitivity of High Resolution Melting Single Nucleotide Polymorphism Genotyping in Malaria

1Department of Organismic and Evolutionary Biology, Harvard University, 2Department of Immunology and Infectious Diseases, Harvard T.H. Chan School of Public Health, 3Faculty of Medicine and Pharmacy, Cheikh Anta Diop University, 4School of Nursing and Health Sciences, Simmons College, 5Institute of Infectious Diseases, Broad Institute

JoVE 52839


 Immunology and Infection

High-resolution Melting PCR for Complement Receptor 1 Length Polymorphism Genotyping: An Innovative Tool for Alzheimer's Disease Gene Susceptibility Assessment

1Department of Immunology, Reims University Hospitals, Robert Debré Hospital, 2Faculty of Medicine, LRN EA 4682, University of Reims Champagne-Ardenne, 3Department of Internal Medicine and Geriatrics, Reims University Hospitals, Maison Blanche Hospital, 4Faculty of Medicine, EA 3797, University of Reims Champagne-Ardenne

JoVE 56012


 Genetics

Enhanced Reduced Representation Bisulfite Sequencing for Assessment of DNA Methylation at Base Pair Resolution

1Department of Medicine, Weill Cornell Medical College, 2Institute for Computational Biomedicine, Weill Cornell Medical College, 3Department of Physiology and Biophysics, Weill Cornell Medical College, 4Department of Pathology, University of Michigan

JoVE 52246


 Biology

Isolation and Kv Channel Recordings in Murine Atrial and Ventricular Cardiomyocytes

1Experimental and Clinical Research Center (ECRC), Charité Medical Faculty and Max-Delbrück Center for Molecular Medicine (MDC), 2Medical Department, Division of Cardiology, Campus Virchow-Klinikum, Charité - Universitätsmedizin Berlin, 3Medical Department, Division of Cardiology and Angiology, Campus Mitte, Charité - Universitätsmedizin Berlin

JoVE 50145


 Biology

Nanomanipulation of Single RNA Molecules by Optical Tweezers

1Nanoscale Engineering Graduate Program, College of Nanoscale Science and Engineering, University at Albany, State University of New York, 2Nanoscale Science Undergraduate Program, College of Nanoscale Science and Engineering, University at Albany, State University of New York, 3Nanobioscience Constellation, College of Nanoscale Science and Engineering, University at Albany, State University of New York, 4The RNA Institute, University at Albany, State University of New York, 5Department of Biological Sciences, University at Albany, State University of New York

JoVE 51542


 Bioengineering

A Practical and Novel Method to Extract Genomic DNA from Blood Collection Kits for Plasma Protein Preservation

1Division of Gastroenterology, Hepatology and Nutrition, Department of Pediatrics, Emory University School of Medicine and Children's Health Care of Atlanta, 2Division of Rheumatology, Department of Pediatrics, Emory University School of Medicine and Children's Health Care of Atlanta

JoVE 4241


 Biology

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

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

Facilitating the Analysis of Immunological Data with Visual Analytic Techniques

1Department of Paediatrics, Division of Infectious and Immunological Diseases, Child and Family Research Institute, University of British Columbia, 2Department of Computer Science, University of British Columbia, 3Department of Psychology, University of British Columbia

JoVE 2397


 Immunology and Infection

SNP Genotyping

JoVE 5544

Single nucleotide polymorphisms, or SNPs, are the most common form of genetic variation in humans. These differences at individual bases in the DNA often do not directly affect gene expression, but in many cases can still be useful for locating disease-associated genes or for diagnosing patients. Numerous methodologies have been established to identify, or “genotype”, SNPs.JoVE’s introduction to SNP Genotyping begins by discussing what SNPs are and how they can be used to identify disease-associated genes. Several common SNP genotyping methods are then examined, including direct hybridization, PCR-based methods, fragment analysis, and sequencing. Finally, we present several examples of how these techniques are applied to genetic research today.


 Genetics

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Methods to Discover Alternative Promoter Usage and Transcriptional Regulation of Murine Bcrp1

1Greenebaum Cancer Center, University of Maryland School of Medicine, 2Pharmaceutical Sciences, University of Maryland School of Pharmacy, 3Baltimore VA Medical Center, 4Membrane Transport and Biopharmaceutics, School of Pharmaceutical Sciences, Kanazawa University, 5Obstetrics, Gynecology and Reproductive Science, University of Pittsburgh, 6Magee Women's Research Institute, 7Obstetrics, Gynecology, Perinatal Research Branch (NICHD), Wayne State University School of Medicine, 8Medicine, University of Maryland School of Medicine, 9Pathology, University of Maryland School of Medicine, 10Pharmacology, University of Maryland School of Medicine, 11Experimental Therapeutics, University of Maryland School of Medicine

JoVE 53827


 Biology

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