Based on the hypothesis that genes with high frequency of non-sense (stop-gain) mutations in population are unlikely to be causal for rare Mendelian diseases, we compiled a list of such ‘dispensable’ genes using data from the 1000 Genomes Project. For the CEU, YRI and JPT+CHB population separately, we identify genes that have non-sense mutations with combined minor allele frequency (MAF) >1%. For example, if two nonsense mutations in the same gene have MAF of 0.5 and 0.8% in CEU populations, this gene will be regarded as a dispensable gene. This analysis resulted in the identification of a total of 2064 genes from the 1000 Genomes Project. We caution that genes may fall within this list due to sequencing errors or alignment errors; for example, if the gene has many pseudogenes or if it is present within a segmental duplication. This list (∼10% of all annotated human genes) is useful as a filtering step to further trim down potential candidate genes for Mendelian diseases.
