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Research Variants Watchlist

 

Dear GeneTalk Community,

thank you all so much for the annotations, comments and rankings on variants of uncertain clinical significance, VUCS, that you contributed over the recent months! We are so happy that we could help to establish many new research collaborations that resulted in fascinating articles this year: People *) came together **) looked at mutations and ***) solved challenging cases in a joint effort [link to vici paper]! 

Now we are proud to present a major upgrade in GeneTalk that will allow us to continue this success story in the next year. First of all, we completely rethought the way you are analyzing cases. No matter, whether it’s a single vcf file or multiple vcf files that you upload, in the end it’s cases that you want to solve. That’s why we now list all the samples that you have in your GeneTalk account. It sounds so obvious but it really needed some tough reengineering of the platform, as we had to extract the samples from all your files and link it with the phenotype information that you provided.

We think that the new focus on samples instead of files will actually boost your productivity in an additional way, as it will allow you to start a well defined query for any candidate mutation in any sample . Besides the annotations and comments that you already know in GeneTalk and that are usually visible to all GeneTalk users we designed a Research Variant Watchlist. The Watchlist is basically a secured environment, that will establish research collaborations between GeneTalk users with a common interest, which is a VUCS in a patient. If you like this new feature we will certainly extend it to gene and phenotype matching as well. So we are looking forward to your feedback on the user experience!

Best wishes and a happy holiday,

Your GeneTalk Team

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