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. Author manuscript; available in PMC: 2023 Feb 27.
Published in final edited form as: JAMA. 2021 Jul 20;326(3):268–269. doi: 10.1001/jama.2021.0407

Figure. Analytical sources of error in a clinical sequencing assay.

Figure.

Examples of sources of error and bias introduced in the stages of the sequencing process from DNA to variant calls: (1) Library prep – preparation of the DNA for sequencing, (2) Sequencing – measuring the sequence of the DNA molecules, (3) Mapping/alignment – comparing the DNA sequences to the Reference Genome, and (4) Variant Calling – determining differences (variants) between the individual being sequenced and the Reference Genome.