Assessment of the latest NGS enrichment capture methods in clinical context.

摘要: Enrichment capture methods for NGS are widely used, however, they evolve rapidly and it is necessary to periodically measure their strengths weaknesses before transfer diagnostic services. We assessed two recently released custom DNA solution-capture enrichment NGS, namely Illumina NRCCE Agilent SureSelect(QXT), against a reference method NimbleGen SeqCap EZ Choice on similar gene panel, sharing 678 kb 110 genes. Two MiSeq runs of 12 samples each have been performed, the three methods, using same 24 patients (affected with sensorineural disorders). Technical outcomes computed compared, including depth evenness coverage, in targeted regions, performance GC-rich regions ability generate consistent variant datasets. While we show that resulted suitable datasets standard discovery, describe significant differences between results above parameters. offered best coverage evenness, while showed highest target levels but high duplicate rates. SureSelect(QXT) an overall quality close NimbleGen. The new exhibit reduced preparation time behave differently. These findings will guide laboratories choice library approach.