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Identifying differences between the sequenced genome and the reference genome.

Use in clinical context

As part of the analysis carried out by bioinformaticians a sequenced genome is compared to a reference to identify any differences. Variants will be identified or ‘called’ that are not present in the reference which may then go on for further analysis. Identified variants could have functional consequences, including directly causing a rare condition, increased or decreased predisposition to developing common health problems, or they may have no effect at all.

Last updated on 30th May, 2019