GeneTalk – expert knowledge portal for human sequence variants

Next-generation sequencing (NGS) technology is revolutionizing the way we practice not only genetics but medicine as a whole. NGS technology will improve the diagnostics for millions of patients and will finally enable better treatments options. For physicians this represents a huge challenge. Large data sets need to be analyzed and only sophisticated computer-assisted tools will enable health professionals to do so.

GeneTalk – expert knowledge portal for human sequence variants


GeneTalk is a web-based platform for analyzing NGS data and it is also the largest expert network to date in which geneticists discuss variants of uncertain clinical significance, VUCS. GeneTalk is made for all professionals that work on human NGS data and enables a high quality assessment of VUCS. GeneTalk aims at becoming a reliable resource in science and clinics that should be consulted whenever the medical relevance of a genetic finding has to be assessed.

For the product development GeneTalk analyzed the user-behavior of physicians. This made GeneTalk to a tool that allows users without bioinformatics skills to generate high quality reports of large genetic data sets in short time. This allows physicians to strengthen their core competence of interpreting medical data and to maintain the overview in a plethora of millions of sequence variants. The data analysis in GeneTalk is user driven and the discussion among experts on the platform increases GeneTalk’s knowledge base with user generated content every day.

At the current date more than 1000 expert users work with GeneTalk on a daily basis. Everyone is welcome to register on GeneTalk and they will enjoy bundle of useful tools for their analysis for free. For the professional version and technical support a subscription with an annual fee is required.

For many patients that are affected by a rare genetic disorder, it’s a long odyssey until their correct diagnosis is found. With the advent of the new sequencing technology the detection of sequence variants became easy. However, to decide whether a sequence variant is really disease causing, one usually needs several patients with the same mutation. This task of finding the second, or third patient can best be solved in a global effort. GeneTalk loves to build the tools for this challenge!

More about GeneTalk:

GeneTalk – human sequence variants – VUCS – Gene-Talk

GeneTalk – Next-generation sequencing – NGS – rare genetic disorder – Gene Talk –