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The Characterization of Twenty Sequenced Human Genomes

Figure 4

Rank of the F8 gene as the number of control genomes increases.

The gene ranking was ordered by the number of case genomes that carried protein-truncating or stop loss variants, in homozygous form or on the X-chromosome, that were not present in control genomes in homozygous form. Ranking was performed with a “gene prioritization” function implemented in the SVA software tool [21] (Text S1). Protein-truncating variants were defined as SNVs that cause a premature stop codon, and insertions or deletions that cause a frameshift coding change. The ranks represent an average taken from five permutations. When comparing 10 hemophilia cases to just one control, F8 ranks in the top 40 genes. Once 5 or more controls are available, it ranks in the top 5 genes.

Figure 4

doi: https://doi.org/10.1371/journal.pgen.1001111.g004