Using the database for searches that include genomic data

Now, as an increasing number of brains undergo genotyping, the database has incorporated single nucleotide polymorphism (SNP) search functionality in the web interface. The database can be interrogated using the RS number to choose the SNPs of interest, as illustrated in the search query below, which includes 6 SNPs.

(Credit: MRC Brain Banks Network database)

Upon running a search, if data are available for the chosen SNPs for any brains in the database then the distributions of genotypes are displayed as shown below.

(Credit: MRC Brain Banks Network database)

For individual brains, the genotypes are shown below the International Classification of Diseases-10 (ICD-10) clinical codes, as illustrated below, together with the source (or sources) of the genomic data. Note that the red, strike-through text in the images indicates potentially relevant findings that are not present in an individual case.

(Credit: MRC Brain Banks Network database)

For an increasing number of brains, the database also shows the individual polygenic risk score for Alzheimer’s disease, calculated using the 2013 International Genomics of Alzheimer’s Project (IGAP) data.

(Credit: MRC Brain Banks Network database)

Data sources

The genome sequencing data in UKBBN is provided by collaborating studies. UKBBN does not validate the data, so researchers using this data should contact the original authors of the relevant studies for further information. The studies are:

• BDR-EX - Patel_et al., 2018, Neuropathol Appl Neurobiol, 44(5):506-521
• BDR-NCHIP - Blauwendraat et al., 2017, Neurobiol Aging, 57:247.e9-247.e13
• CAMB - Keogh et al., 2017, Genome Res. 27(1):165-1732
• The Polygenic Risk Score for Alzheimer’s disease was calculated using the 2013 IGAP data as a training set per the method described by Escott-Price et al., 2015.