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Archive of posts filed under the General category.

First experiences with the Watchlist

The Watchlist – a customer-pulled request, I just read “running lean” from Ash Maurya and learned many new words! Now I can refer to some of the stuff we recently released with the appropriate terms! The research variant database was clearly a customer-pull request. We heard from many different users about the dilemma of finding a [...]

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 **) [...]

Stay tuned!

Web 2.0 broad us many new ways to communicate and GeneTalk wants you to use all this fancy technology for your research. Let’s take Twitter for example: If a user decides to make an annotation in GeneTalk that’s visible to the public, then we will automatically generate a tweet via the GeneTalk account @Gene_Talk. Nadja [...]

GeneTalk’s frequency filter now based on more than 65,000 exomes

Standing on the shoulders of giants Power does not consist in striking with force but in striking with frequency! We adapted slightly Balzac’s catechism so that it can now be applied to sequence variants. We updated GeneTalk’s frequency filter with the genotype data of more than 65,000 exomes from the Exome Aggregation Consortium. Thanks Daniel [...]

Quality and Coverage Filters

Many of you asked us for a quality filter, so here it is! Compared to all the other filters it wasn’t actually that hard to implement, so you might wonder, what took us that long? Well, the problem basically starts right away with the term “quality”. What is actually meant by quality? My best explanation [...]

39 novel pathogenic mutations for Usher Syndrome

It took us quite a while, but finally we got our paper accepted. That means 39 variants of unknown clinical significance can now be regarded as disease causing. You will find all annotations in GeneTalk, as well as in CinVar in one of the next releases.

New case solved with the help of GeneTalk

Hey Mateusz, congratulations on your new paper: “Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome”. And thank you contribution valuable annotations to our knowledge base!

ESHG 2014

Yes, you are right, that’s a glass of pickled gherkins in front of us and it was completely empty after the ESHG conference in Milan. Thus no slack season for GeneTalk! Thanks for all your interest!

old school print advertisement

  Well, we spent some euros for a print ad in the conference transcript of the annual GfH meeting in Essen. Here are the best comments we got so far: – So Mr. Krupp is your new sugar daddy? – Ah! That’s why you charge that much for a premium license! – Raffiniert, ihr denkt, [...]

Do looks really matter?

Well, in Medical Genetics they do! With a profound description of the phenotypic features you might also be able to prioritize your candidate list! However, let’s take one thing at a time: Take a look at the pedigree editor: You can now add phenotypic information for each of your individuals you’ve got NGS data for. [...]