As a next step we tested for Mendelian inconsistencies on all SNPs and samples. Mendelian errors (ME) can emerge from sample misidentification, DNA contamination, copy-number variation (CNV), genotype calling errors and other reasons. The median of ME per family in both investigated cohorts was below 0.005%. More than 99% of the discovery families and 98% of the validation families had ME below 0.02%. We excluded families with ME > 2% from the analysis. This threshold would still allow for small deletions and duplications that are common in human genome.
