A DNA sequencing assay that intends to provide information about the sequence of an entire genome of an organism.

Synonyms: whole genome sequencing assay

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Term information

definition source

PMID:23095910
PMID:25827230

example of usage

WGS permits comprehensive sequencing of introns and exons, whereas whole exome sequencing (WES) allows deeper sequencing of exonic regions at a lower cost. Due to the large number of genetic variants found in each genome, it is necessary to use filtering approaches to distinguish deleterious from benign variants. WES has been used successfully to identify novel genetic causes of primary immunodeficiency. Complex structural variations and non-Mendelian disorders remain challenges for WGS.

Term relations

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