The answer is YES! Analyzing a genetic variant and evaluating its biological correlation with a disease is already challenging work. The genetic complexity of some diseases alone is a big challenge, but there are other points that complicate this task, such as the interactions with environmental factors,the penetrance of some disease-causing variants, the effect of epigenetic changes, and variations between populations. In addition to biological aspects, there are technical aspects related to the wet-lab environment and its experimental variations, such as the dry-lab e its computational complexities, which are extra challenges encountered during the analysis.
Now, imagine having to code to reach this result? The data volume is already tricky to handle, but learning and knowing the algorithms is a skill on itself. Dealing with data quality control, adaptations, pipeline reproducibility and server stability – not to mention integrating the generated data with other data types and databanks, all the while using the latest available resources is another huge side of challenge.
It seems an impossible task for routine labs that need to deliver the sequencing results with an accurate analysis and in a short turnaround time. It also configures an extra unnecessary effort and time spent in research projects with hundreds of samples that need to be analyzed individually and then compared. Fortunately, there are bioinformatics tools with a friendly interface, and easy and intuitive navigation to support the genetic variant analysis.
Clinical Sequencing Data Analysis
To support diagnosis and treatment indications for cancer and other diseases, NGS sequencing has been widely used worldwide as part of routine laboratory tests’ portfolio. Not only is the method evolving but the almost daily updates on genetic markers are an extra challenge for reporting a variant. For instance, to properly curate a genetic variant it’s important to check several databanks and other relevant scientific literature to be on date about a target-variant interpretation. However, with the right tool, one can visualize variants and check the variants information available in the most relevant databanks and see the variant classification according to the ACMG and AMP guidelines in real time. This saves hours that would be dedicated time extenuating coding and data analysis and concentrates efforts on key processes for professionals like physicians and geneticists.
The revolutionary DNA GTx Genetic Variant Viewer, D-Krypt™, offers all these features shown in a unique screen. It’s accessed through your browser, so there is no need for investment in expensive hardware or in a server for storing and analyzing the data, as everything is done through the cloud. For laboratories with privacy concerns, D-Krypt ™, can be locally installed in a server – although DNA GTx was recently certified with the .
In any case, it is simple, one just needs to upload their data and apply the filters of their choice to see the variant(s) from patient data already classified. With the help of our user guide and each laboratory’s interest and experience, one will decide which is the better way to filter their variants of interest, D-Krypt™ just makes this simple and intuitive, where the path between raw patient data and report is only a few clicks away.
Contact us and request a demo, it’s simple and completely free.
We will be happy to introduce you to our tool, developed and tested by bioinformatics experts.