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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 the relationships between the samples have been defined properly. If labels of samples have been erroneously mixed-up or the DNA of another individual has been sequenced, your diagnostic workup will fail.
Luckily, with several thousands of genotypes in a multiple VCF file it is possible to reconstruct the relationships between samples. We implemented a new feature in GeneTalk and are proud to present the pedigree predictor: In the pedigree editor there is a new “guess” button that will estimate the relationships of your samples. The predicted family structure is displayed in a pedigree. If the predicted relationships do not agree with your expectations this might point to a sample mix-up. So don’t get tricked!

If you experience any predictions that you don’t trust, please let us know (verena.heinrich (at)!