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Definition

The process of using a reference genome to assist with piecing a genome back together following sequencing of DNA fragments.

Use in clinical context

Data generated from DNA sequencing produces strings of bases known as ‘reads’. To work out which bit of the genome each read corresponds to, they are lined up (aligned) to a reference genome. By doing this, differences can be identified in the sequenced genome that could result in a genetic condition, susceptibility to disease or affect how a patient or cancer responds to a particular treatment. Identifying these differences is reliant on a good alignment.

Last updated on 31st May, 2019