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Bioinformatics definitions

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  • Bioinformatics
    Field analyzing genomic data to identify genes, RNAs, and regulatory elements using computational tools and databases.
  • Annotation
    Process of marking functional genomic elements, often visualized with colors and markers to distinguish features.
  • Genome
    Complete set of genetic material containing information about genes, RNAs, and regulatory regions in an organism.
  • Proteome
    Comprehensive inventory of all proteins encoded by an organism’s genome, reflecting its functional output.
  • Open Reading Frame
    DNA sequence with gene-like features such as start and stop codons, exons, introns, and splice sites, indicating protein-coding potential.
  • Codon Bias
    Preference for certain codons over others for the same amino acid, often used to identify protein-coding regions.
  • cDNA
    DNA synthesized from mRNA, representing only coding regions with introns removed, used to confirm gene expression.
  • Expressed Sequence Tag
    Short cDNA sequence derived from mRNA, used to identify actively expressed genes in a cell at a given time.
  • Splice Site
    Genomic location where introns are removed and exons joined during mRNA processing, crucial for gene structure.
  • Promoter
    Conserved DNA sequence upstream of a gene, serving as a binding site for transcription initiation.
  • Consensus Sequence
    Highly conserved nucleotide pattern found at functional sites like promoters or splice sites, aiding in their prediction.
  • BLAST
    Online tool for comparing nucleotide or protein sequences to databases, revealing similarity and evolutionary relationships.
  • NCBI
    Major online resource hosting genomic databases and tools like BLAST for sequence analysis and comparison.
  • Regulatory Site
    Genomic region involved in controlling gene expression, such as enhancers, promoters, or binding sites.
  • Exon
    Segment of a gene retained in mature mRNA, contributing to the coding sequence for proteins.