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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

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.