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Archive of entries posted on April 2015

The frequency filter Hardy Weinberg dreamed of

You are suspecting a recessive mode of inheritance. What cutoff for the frequency filter should you select? Well, it depends, are you looking for a homozygous pathogenic mutation or compound heterozygotes? This makes a big difference and the Hardy-Weinberg principle might help you to decide. Let’s review the math: In a sufficiently large population there [...]

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 [...]