Iowa Institute of Human Genetics

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  • E

    Empiric risk:

    Risk estimate based on observation.

    Epigenetic:

    A heritable change to gene function that affects a phenotype without a change of the DNA sequence or genotype.

    EST:

    Expressed sequence tag

    EVS:

    NHLBI exome variant server database

    Exome:

    All of the protein coding regions in the genome. (All of the exons in the entire human genome). Approximately 1% of the human genome. Currently, most known disease causing variants are located in the exome.

    Exome sequencing (WES):

    Determines all of the DNA base pairs in the regions of the genome which encode protein. Sequencing every exon of every gene in the genome. Compare to sequencing.

    Exon:

    The portion of a gene present in messenger RNA and encodes for protein.

    Exonic variant:

    A DNA alteration located in an exon which may or may not alter an amino acid.