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Related Concept Videos

Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

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A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
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Cells are regularly exposed to mutagens—factors in the environment that can damage DNA and generate mutations. UV radiation is one of the most common mutagens and is estimated to introduce a significant number of changes in DNA. These include bends or kinks in the structure, which can block DNA replication or transcription. If these errors are not fixed, the damage can cause mutations, which in turn can result in cancer or disease depending on which sequences are...
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Drug discovery is a multifaceted process involving extensive screening, testing, and optimization of lead compounds to identify potential new drugs for therapeutic use. It combines several approaches, including screening large numbers of natural products, chemical modification of known active molecules, identification of new drug targets, and rational design based on biological mechanisms and drug-receptor structure. These approaches are carried out in both academic research laboratories and...
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Nucleic Acids and Nucleotides01:20

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Nucleic acids are the most important macromolecules for the continuity of life. They carry the cell's genetic blueprint and have instructions for its functioning. The two main types of nucleic acids are deoxyribonucleic acid (DNA) and ribonucleic acid (RNA).
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Factors Affecting Dissolution: Polymorphism, Amorphism and Pseudopolymorphism01:21

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Polymorphism refers to the existence of a drug substance in multiple crystalline forms, known as polymorphs. Recently, this term has been expanded to include solvates (forms containing a solvent), amorphous forms (non-crystalline forms), and desolvated solvates (forms from which the solvent has been removed).
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Genotyping Single Nucleotide Polymorphisms in the Mitochondrial Genome by Pyrosequencing
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Single nucleotide polymorphisms: discovery, detection and analysis.

Mostafa Ronaghi, Taimour Langaee

    Personalized Medicine
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    Summary
    This summary is machine-generated.

    Single nucleotide polymorphisms (SNPs) are common DNA variations. Analyzing SNPs aids in predicting disease risk and personalizing medical treatments, improving human health outcomes.

    Keywords:
    DNA sequencingSNP discoveryanalysisassaygenomegenotypingmultiplexthroughput

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    Area of Science:

    • Genetics and Genomics
    • Molecular Biology
    • Bioinformatics

    Background:

    • Single nucleotide polymorphisms (SNPs) represent the most common type of genetic variation in humans.
    • Understanding SNP variation is crucial for advancing personalized medicine and disease risk prediction.

    Purpose of the Study:

    • To review novel tools for SNP discovery.
    • To discuss current and emerging technologies for large-scale SNP analysis.
    • To provide guidance on selecting appropriate SNP analysis methodologies.

    Main Methods:

    • Literature review of SNP discovery tools.
    • Analysis of existing and emerging high-throughput SNP genotyping technologies.
    • Comparative assessment of different SNP analysis strategies.

    Main Results:

    • Identification of innovative SNP discovery platforms.
    • Overview of scalable SNP analysis techniques, including arrays and sequencing.
    • Framework for choosing SNP analysis methods based on research needs.

    Conclusions:

    • Advancements in SNP discovery and analysis technologies offer significant potential for improving human health.
    • Strategic selection of SNP analysis approaches is key to maximizing research impact and clinical utility.