NCI Dictionary of Genetics Terms

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Welcome to the NCI Dictionary of Genetics Terms, which contains technical definitions for more than 150 terms related to genetics. These definitions were developed by the PDQ® Cancer Genetics Editorial Board to support the evidence-based, peer-reviewed PDQ cancer genetics information summaries.

whole-exome sequencing
(hole-EK-some SEE-kwen-sing)
A laboratory process that is used to determine the nucleotide sequence primarily of the exonic (or protein-coding) regions of an individual’s genome and related sequences, representing approximately 1% of the complete DNA sequence.