Genome: the genetic complement of an organism, including all of its genes, as represented in its DNA, or in some cases, its RNA. (MeSH) A massive recipe book for building the nuts and bolts of biological organisms. (Eagleman, 210)
"Genomics" refers to the study of the entire genome of an “organism.” (NHGRI) The genome is critical to life because it acts as a stable informational unit, provides continuity from “generation” to generation, and acts as an instrument of evolutionary change. (Brooker, 11) Has the entire set of genetic instructions in the “nucleus” of every cell. The two copies of each “chromosome” we inherit furnishes us with two copies of each “gene” and therefore two copies of the genome. Genome sizes vary from “species” to species. From measurements of the amount of DNA in a single cell, we have been able to estimate the the human genome contains some 3.1 billion “base pairs.” (Watson, 165) Adjective - ‘genomic.’
Exome: that part of the genome that corresponds to the complete complement of "exons" of an organism or cell. (MeSH)
Expressed Sequence Tag (EST): partial “complementary DNA” (cDNA) sequences that are unique to the cDNAs from which they were derived. (MeSH) A short strand of DNA that is a part of a cDNA molecule and can act as identifier of a gene. Used in locating and mapping genes. (HGPIA) Technological shortcut that sped up the human genome project. Enables researchers to quickly pick out genes most likely to be implicated in disease. (Lewis, 425)
Genome Size: the amount of DNA (or RNA) in one copy of a genome. (MeSH) Editor's note - usually described as the number of "base pairs" it contains.
Genomics: the study of genomes. (Batiza, 170) Comparing and analyzing genomes. (Lewis, 2) Identifying the entire DNA code of not just one living thing, but comparing the complete DNA codes of many living things. (Batiza, 1) The scientific study of “sequencing," "(genetic) mapping," and the analysis of genomes. The branch of molecular biology concerned with this. (Oxford) The study of DNA in genomes. (Norman, 5/26/09) Ultimately the goal of genomics, “proteomics,” and "transcriptomics" is to create a full picture, detailed right down to the level of the individual molecule, of how living things are assembled and operate. (Watson, 222)
Human Genome: the scientific description of the complete set of DNA in the human organism, including gene locations. Consists of 20,000 to 25,000 genes. In October 2004, the International Human Genome Sequencing Consortium published its finished map of the human genome. (Hockenbury, 355)
Human Genome Project: an international 13-year effort, 1990 to 2003. Primary goals were to discover the complete set of human genes and make them accessible for further biological study, and to determine the complete sequence of DNA bases in the human genome. (HGPIA) (Resulted in the) unveiling of the human genome sequence. (Venter, 48) Funded and coordinated by the U.S. Department of Energy and National Institutes of Health in conjunction with the Wellcome Trust in England, and partners in Japan, France, Germany, China, and others. (Batiza, 171) The most ambitious experiment in the history of biological science. (Micklos, 183) The most humbling aspect of the Human Genome Project so far has been the realization that we know remarkably little about what the vast majority of human genes do. (Watson, 217)
Metagenome: a collective genome representative of the many organisms existing in a "community." (MeSH)
Metagenomics: rather than focusing on one particular species, (seeks) to obtain a genetic snapshot of the entire microbial diversity in a environment such as the ocean or the human gut. (Venter, 68)
Sequence: a serial arrangement in which things follow in logical order or a recurrent pattern. (NCIt) The order of nucleotides in a (nucleic acid) molecule. (Lawrence) Editor’s note - most commonly referred to as “DNA sequence” but can also refer to a sequence on a chromosome, an amino acid sequence on a protein, or all of the sequences in a genome.
Amino Acid Sequence: the order of “amino acids” in a protein chain. (Lawrence) Proteins can be made from 20 different kinds of amino acids, and the structure and function of each type of protein are determined by the kinds of amino acids used to make it and how they are arranged. (NCIt) The order of amino acids as they occur in a polypeptide chain. This is referred to as the primary structure of proteins. It is of fundamental importance in determining protein “conformation.” (MeSH) A protein sequence abnormality is a change in the amino acid sequence of a “wild-type” protein. This alteration typically occurs due to a “mutation” of the gene that encodes the protein. The change in amino acid sequence may enhance, reduce, abolish or have no effect on protein activity. (NCIt) Also referred to as a ‘protein sequence’
Complementary Sequence: nucleic acid base sequence that can form a double-stranded structure with another DNA fragment by following base-pairing rules (A pairs with T and C with G). (HGPIA) In RNA transcription, the RNA sequence (after it's transcribed) is complementary to the DNA "coding strand." (Lewis, 181)
DNA Sequence: the relative order of base pairs, whether in a "DNA fragment," gene, chromosome, or an entire genome. (GNN) The order of nucleotide bases in a DNA molecule. Determines structure of proteins encoded by that DNA. (HGPIA) The four bases (used in the sequence) are “adenine,” “guanine,” “cytosine,” and “thymine,” represented as A, G, C, and T. (HGPIA) Also referred to as 'DNA segment,' ‘base sequence,’ ’genetic sequence,’ and ‘nucleotide sequence.’
DNA Fragment: the sequence of genetic ‘letters’ in a piece of DNA. A short DNA sequence might be: ‘ACGTACGTACGT.’ (GNN)
Genome Sequence: order of bases within DNA molecules that make up an organism's entire genome. (HGPIA) The sequence of consecutive DNA ‘letters’ spanning all the chromosomes of a cell from start to finish. (GNN) Includes protein encoding genes and other DNA sequences. (Lewis, 2) Comes packaged in twenty-three separate pairs of chromosomes. (Ridley, 4)
RNA Sequence: the sequence of nucleotide residues along an RNA chain. (NCIt) (Includes) sequences within RNA that regulate the processing, stability or “translation” of RNA. (MeSH)
Sequence Tagged Site (STS): tracts of DNA sequence that are used as landmarks in genome mapping. (MeSH) Short (200 to 500 base pairs) sequence that has a single occurrence in the human genome and whose location and base sequence are known. Detectable by “polymerase chain reaction,” STSs are useful for localizing and orienting the mapping and sequence data reported from many different laboratories and serve as landmarks on the developing physical map of the human genome. (HGPIA)