Exome Aggregation Consortium.

The ExAC database²⁴ contains whole-exome data from 60,706 unrelated adults sequenced as part of various disease-specific (excluding AD) and population genetic studies from 6 ethnic groups. For disease association analyses, we compared the allele frequencies of suspected variants in the healthy controls from the Caribbean Hispanic cohort to the Latino, Caucasian, and African subpopulations of the ExAC database using a Fisher exact test to avoid differences based on ancestry. Subsequent disease-associated analyses were only conducted when there were no statistically significant differences in allele frequency between the Caribbean Hispanic controls and the ExAC subpopulations. To confirm associations of genetic variants with LOAD, we compared the variant allele frequencies by selecting 1 patient from each Caribbean Hispanic family with both unaffected unrelated controls and ExAC combined using a Fisher exact test.