MLLi:ir - A diagnostic interpretation report for NGS data

Making a patient disease diagnosis on the basis of Next-Generation Sequencing (NGS) data is a complex endeavor. To be able to make an exact diagnosis, medical professionals must be able to access all the available information pertaining to the specific genetic variants detected. This is not only time-consuming, but also requires extensive investment. This is further complicated by the fact that not all genetic variants have been described or precisely annotated. The annotation itself is sometimes not easily accessed or may be ambiguous from one source to another.

Nevertheless, sequencing costs are rapidly decreasing, which is closely linked to the implementation of sequencing equipment with significantly increased capacity and the associated increase in sequencing throughput. As a result, the bottleneck in the process is no longer the sequencing itself, but rather the analysis of the detected variants. High-performance and bioinformatics solutions have in recent years been streamlined to address this problem. Despite all these efforts, the problems of annotation and in particular classification, i.e. the distinction between benign and pathogenic variants, remain largely unresolved to date.

Since the establishment of NGS 2010 as a routine diagnostic tool in an accredited setting (ISO 15189, ISO 17025), MLL Münchner Leukämielabor has met the challenges of variant analysis each step of the way. All of the experience and understanding acquired by MLL researchers as well as some of the methodologies developed are now available to the public as part of the MLLi:ir service. MLLi:ir stands for "interpretation report", which users can access via an easy-to-use and transparent web application. Each new interpretation generated by MLLi:ir needs little time on the part of the user, since the entire analysis of sequencing results is performed by MLL scientists, who draw on a wealth of expertise and know-how to evaluate the NGS data.

MLLi:ir assesses the NGS data received and provides the user with a comprehensive interpretation prepared by a trained team of scientists with wide ranging expertise in variant evaluation. The interpretation includes a clear and conclusive statement based on the pathogenic variants detected. In order to understand the results obtained, publicly accessible databases of somatic mutations and population frequencies as well as in silico algorithms for predicting mutation severity are queried, as is the MLL-owned, well-maintained variant database. This enables MLLi:ir to harmonize the wealth of genomic data and makes it easier for physicians to establish an accurate diagnosis. With this service, MLL Münchner Leukämielabor strives to improve diagnostics and thereby contribute towards the well-being of patients.

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Niroshan Nadarajah

Bioinformatician, M.Sc.
Innovation & Partner Management

T: +49 89 99017-567