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The process of piecing back together DNA sequence reads from fragments to create one readable genome sequence.

Use in clinical context

Most DNA sequencers produce short fragments of the genome called ‘reads’. To be able to use the data from whole genome sequencing the reads are aligned – usually to a reference genome. They are then put together to form an assembly that can be used to identify changes to the genome which may have clinical importance for the individual.

Last updated on 31st May, 2019