Genetics


ALZGENE

AlzGene is a collection of published Alzheimer's disease genetic association studies, with random-effects meta-analyses for polymorphisms with genotype data in at least three case-control samples.

HEX (HEALTHY EXOMES)

The Healthy Exomes database is a repository of genetic variants predicted to be benign with respect to age-associated neurodegenerative brain disease. It contains whole-exome sequencing results from nearly 500 individuals over the age of 60 who did not have a neurodegenerative disease diagnosis or disease-associated neuropathology at the time of their death. This database provides a unique reference cohort of aged individuals without evidence of neurodegenerative disease. The HEX database is developed in collaboration with Jose Bras and Rita Guerreiro, University College London.

MUTATIONS

This database is a repository of variants in genes linked to Alzheimer’s disease. Currently, it includes the three genes associated with autosomal-dominant AD (APP, PSEN1, PSEN2) plus two genes associated with AD by way of genetics or the neuropathology of the encoded protein (TREM2 and MAPT). The goal is to provide a comprehensive list of rare variants in these genes, ranging from causative to benign, and to briefly summarize any associated clinical features, neuropathology, and functional effects, as reported in the literature.