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Genomics and Human Medicine definitions

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  • Human Genome Project
    A global scientific effort that provided the first complete sequence of human DNA, revealing unexpected proportions of coding and non-coding regions.
  • Protein-coding gene
    A DNA segment responsible for producing proteins, representing only a small fraction of the entire human genome.
  • Alternative splicing
    A process allowing a single gene to generate multiple protein variants by rearranging its exons during RNA processing.
  • Copy number variation
    A genetic difference where sections of DNA are duplicated or deleted, contributing to diversity even among identical twins.
  • Single nucleotide polymorphism
    A variation at a single DNA base position among individuals, serving as a major source of genetic diversity.
  • Transposon
    A mobile DNA sequence capable of moving within the genome, sometimes called a 'jumping gene,' influencing genome structure.
  • Intron
    A non-coding DNA segment within a gene, situated between exons, often removed during RNA processing.
  • Pseudogene
    A DNA sequence resembling a gene but rendered nonfunctional due to mutations or insertions.
  • Gene desert
    A large genomic region lacking protein-coding genes, often associated with inactive chromatin.
  • Transgenic organism
    An organism engineered to contain DNA from another species, commonly used to study gene function or model diseases.
  • Gene addition
    A genetic engineering method where a new gene is inserted into an organism's genome, not necessarily at a specific site.
  • Gene knock-in
    A precise genetic modification where a gene is inserted at a targeted location, often with a specific promoter for expression.
  • Gene knockout
    A genetic technique where a gene is completely inactivated or removed to study its function.
  • Gene therapy
    A medical approach aiming to treat diseases by delivering functional genes to replace or supplement defective ones.
  • Liposome
    A lipid-based vesicle used to deliver therapeutic DNA into cells without using viruses, especially in gene therapy.