Investigators used association testing on single variants (MAF > 0.5%) and aggregates of rare (MAF < 1%) coding and non-coding variants with the R3 WGS data from the Alzheimer’s Disease Sequencing Project (ADSP) to uncover common and rare genetic variation that may have been missed by traditional genotyping methods within the pooled samples and population subgroups (Lee et al., 2023; DOI: 10.1101/2023.09.01.23294953).

The study examined pooled samples, N cases=6,519 and N control=6,852) and within the three subgroups: African Americans (AA, N cases=1,137 and N control=1,707), Hispanics (HIS, N cases=1,021 and N control=1,988), and Non-Hispanic White (NHW, N cases=4,230 and N control=3,109) defined by reported race and ethnicity.