Figure 2.

Exome sequencing in 1461 postmortem brains. Assessment of heterozygous variants in genes known to cause familial forms of neurodegenerative disease. All variants were initially assessed against the American College of Medical Genetics (ACMG) criteria and all evidence relating to pathogenicity was recorded according to the guidelines of MacArthur et al. (2014). Comparing variants to clinical and neuropathological data in their respective cases enabled a significant refinement of likely pathogenicity and, in particular, an increase in the number of variants likely to be benign, allowing the reclassification of previous variants considered pathogenic.