Evaluating the performance of a target enrichment panel can be achieved using numerous metrics, one of which is uniformity, which assesses how evenly data are obtained across target regions. In ideal targeted sequencing, an equal amount of data would be obtained from all capture regions. However, in reality, discrepancies in sequencing depth occur across regions due to various factors; the efficiency of sequencing, analysis, or PCR amplification, as well as the efficacy of the capture probes are some of the factors that can be influenced by the regional or sequence characteristics. Panel rebalancing is a process aimed at reducing data discrepancies and improving overall panel performance by altering the panel’s composition.
Figure 1. Uniformity Assessment of Targeted Sequencing Data
Due to the diverse causes of data discrepancies, accurate prediction of the targeted sequencing results solely based on sequence information of target regions is currently impossible. Therefore, to obtain actual performance data of the panel, Celemics synthesizes panel prototypes and conducts pilot tests using real samples.
Figure 2. Celemics Panel Rebalancing Process
Based on the pilot test results, regions with either excessively low or high depths are selected as targets for panel rebalancing. Furthermore, additional rebalancing for regions requested by customers can also be performed. This rebalancing process may involve adjusting the quantity of individual probes within the panel, designing new probes in different positions, modifying probe sequences, or adding functional groups as needed. Thus, as Celemics Panel rebalancing process is based on actual sequencing run data, which ensures the optimized performance of the panel.
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