The ADSP Discovery Family-Based Extension Study:

To further assess the genomes in multiply affected families, under funding provided by NHGRI, an additional 427 samples were whole genome sequenced. This included 107 additional samples from families studied under the Discovery Phase, 175 samples from 47 new families, and 145 Hispanic Controls. This portion of the study is called the Discovery Extension Phase. The Family Based Study spans seven cohorts provided by the Alzheimer’s Disease Genetics Consortium (ADGC) and the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium.

The ADSP Discovery Case-Control Based Extension Study:

Under funding provided by NHGRI, an additional 3,000 subjects were whole genome sequenced. This included 1,466 cases and 1,534 controls. Of these 1,000 each of Non-Hispanic White (NHW), Caribbean Hispanic (CH), and African American (AA) descent were sequenced. Of these a total of 739 autopsy samples were sequenced [568 cases (500 NHW cases and 68 AA cases) and 171 controls (164 NHW and 7 AA)]. This Case-Control spans 5 cohorts provided by the Alzheimer’s Disease Genetics Consortium (ADGC).

Sequencing for these samples was conducted through three National Human Genome Research Institute (NHGRI) funded Large Scale Sequencing and Analysis Centers (LSACs): Baylor College of Medicine Human Genome Sequencing Center, the Broad Institute, the McDonnell Genome Institute at Washington University. The samples were sequenced on the Illumina HiSeq X Ten platform with 150bp paired-end reads.

More information about how the samples were selected for sequencing can be found in this document: ADSP Discovery Extension Case-Control Sample Selection Criteria.

Total number of samples: 3,400

Female 2,250 66.2 %
Male 1,150 33.8 %

Total number of samples: 3,400

American Indian/Alaska Native1
Native Hawaiian or Other Pacific Islander1
Black or African American1,029
White1,235
Other1,132
NA2

Total number of samples: 3,400

Not Hispanic or Latino
2,153
63.3%
Hispanic or Latino
1,237
36.4%
Not Applicable/Not Available
10
0.3%

Total number of samples: 3,400

Disease
AD3,400100.0%
Study Specific Diagnosis
Control1,76551.9%
Case1,49944.1%
Other50.1%
Unknown1313.9%

Total number of samples: 3,400

  • 2216 (0.5%)
  • 23359 (10.6%)
  • 2496 (2.8%)
  • 331,750 (51.5%)
  • 34987 (29.0%)
  • 44187 (5.5%)
  • NA5 (0.1%)