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RNA fusions for more targeted help in cancer

New software for analyzing RNA fusions

The Leipzig company ecSeq Bioinformatics GmbH has in its analysis software for NGS-based genetic tests Seamless NGS a new module for the detection of fusion events integrated.

Analysis at the highest level

A dilution study was used to compare the analysis, in which reference samples were mixed with known RNA fusions in different degrees of dilution. Analysis of the results showed that Seamless NGS in the detection of the CBFB-MYH11 fusion not only reaches the sensitivity of the previous evaluation, but exceeds it by an order of magnitude. While the Archer® Analysis Software accompanying the assay was able to detect fusions at dilutions from 1:10 to 1:1,000, Seamless NGS was able to do so at dilutions up to 1:10,000.

Seamless NGS – One for all

¢ is a software that can detect not only DNA mutations (SNVs), insertions/deletions (InDels), copy number variations (CNVs) but also RNA fusions. The software is ideal because panels from a wide variety of suppliers (Archer®, QiaSeq®, Illumina®, Twist Bioscience®, etc.) can be analyzed and there are no limitations in terms of sequencing machines (Illumina®, IonTorrent®, MGI®, etc.). suitable for laboratories that want to offer their customers a wide range of different NGS-based genetic tests.

Source: https://www.ecseq.com/blog/2020/Improving-the-Sensitivity-of-Gene-Fusion-Detection-from-Archer-FusionPlex-Panels

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