and there were in total 33 SNVs and 3 indels detected. While this reduced the false positive rate, some true positives were discarded, resulting in lower.
Several other studies have considered ignoring variants detected at regions with longer homopolymer run length. Although this approach can improve detection specificity, it is impractical for clinical laboratories due to time and cost constraints, especially when dealing with a high volume of samples.
To correct for homopolymer sequencing errors, resequencing the region of interest many times or using alternative platforms for verification have been used. Any excessive errors may have significant impact on verification time and costs and most importantly, treatment decisions might be affected. High sensitivity and specificity in screening genomic variations are essential for clinical genetic tests. These errors tend to increase in genomic regions where the occurrence of true polymorphisms is also higher, and thus it is analytically challenging to reduce these errors without compromising detection sensitivity. Homopolymer sequencing errors are those associated with runs of consecutive identical nucleotides (Fig. However, the PGM TM produces high frequencies of homopolymer sequencing errors. The Ion Torrent PGM TM is a commercially available benchtop high-throughput sequencer capable of analysing clinically derived genomes with high productivity and performance. Their lower start-up costs and simpler sample preparation promise to reduce the reliance on core genome facilities and are likely to spur the use of NGS in clinical genetic testing. Even more recently, benchtop high-throughput sequencers such as the Ion Torrent PGM TM from Life Technologies and the MiSeq from Illumina have emerged as the latest options for genome resequencing. In particular, mutation screening by the resequencing of bacterial, viral and cancer genomes from clinical samples have resulted in the discovery of disease-associated genetic factors. years have witnessed a rapid increase in the utilization of next-generation sequencing (NGS) technology for clinical genetic testing.
0 kommentar(er)
