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Archive of posts filed under the GeneTalk News category.

Pedigree Predictor

The number of potentially disease-causing variants in an affected individual can effectively be reduced if further samples of the family are available for the analysis. As you already know GeneTalk provides highly effective filters for different modes of inheritance that work on multiple VCF files. However, these filters will only yield the correct results if [...]

GeneTalk Rankings

Thanks to all of you who contributed valuable annotations, comments and rankings for variants over the recent months! Many of you pointed out that some variants were ranked too high in the category medical relevance. Well, from an epidemiologist point of view it is often difficult to decide whether an allele is merely disease associated [...]

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 [...]

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, [...]

Germany votes politicians, GeneTalk votes variants

Last week, there was a massive rebuilding of our databases. In particular, the ratings for annotations were completely redesigned: We no longer take the average value over all user ratings to assess an annotation. Instead, the majority of votes decides the medical relevance and the scientific evidence. We felt, that this new criterion better fits [...]

Where have all the annotations gone?

Where have all the annotations gone? Long time passing. Where have all the annotations gone? Long time ago. Where have all the annotations gone? The stars show ratings now! When do they ever learn? When do they ever learn? I hope, the last line does apply to us and our attempts to make GeneTalk more [...]

GeneTalk in “Potsdamer Neueste Nachrichten”

An article about GeneTalk appeared in the daily newpaper “Potsdamer Neueste Nachrichten”: http://www.pnn.de/campus/743176/ (in german). Interesting to read what the author made from the stuff we told him. Well, at least some parts are actually correct.

Meet us at GFH conference 2013

GeneTalk will be present at the conference of the german society for human genetics (GFH), 20.-22. 03. 2013 in Dresden, Germany. Meet us at booth 37.