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All Outputs (3)

Investigating splicing variants uncovered by next-generation sequencing the Alzheimer’s disease candidate genes, CLU, PICALM, CR1, ABCA7, BIN1, the MS4A locus, CD2AP, EPHA1 and CD33 (2016)
Journal Article
Clement, N., Braae, A., Turton, J., Lord, J., Guetta-Baranes, T., Medway, C., …Morgan, K. (in press). Investigating splicing variants uncovered by next-generation sequencing the Alzheimer’s disease candidate genes, CLU, PICALM, CR1, ABCA7, BIN1, the MS4A locus, CD2AP, EPHA1 and CD33. Journal of Alzheimer's Disease and Parkinsonism, 6(6), https://doi.org/10.4172/2161-0460.1000276

Late onset Alzheimer’s disease (LOAD), the most common cause of late onset dementia, has a strong genetic component. To date, 21 disease-risk loci have been identified through genome wide association studies (GWAS). However, the causative functional... Read More about Investigating splicing variants uncovered by next-generation sequencing the Alzheimer’s disease candidate genes, CLU, PICALM, CR1, ABCA7, BIN1, the MS4A locus, CD2AP, EPHA1 and CD33.

Mutation analysis of sporadic early-onset Alzheimer's disease using the NeuroX array (2016)
Journal Article
Barber, I. S., Braae, A., Clement, N., Patel, T., Guetta-Baranes, T., Brookes, K., …Morgan, K. (2017). Mutation analysis of sporadic early-onset Alzheimer's disease using the NeuroX array. Neurobiology of Aging, 49, Article 215.e1-215.e8. https://doi.org/10.1016/j.neurobiolaging.2016.09.008

We have screened sporadic early-onset Alzheimer’s disease (sEOAD, n=408) samples using the NeuroX array for known causative and predicted pathogenic variants in 16 genes linked to familial forms of neurodegeneration. We found two sEOAD individuals ha... Read More about Mutation analysis of sporadic early-onset Alzheimer's disease using the NeuroX array.

Identifying polymorphisms in the Alzheimer's related APP gene using the MinION sequencer (2016)
Journal Article
Brookes, K. (2016). Identifying polymorphisms in the Alzheimer's related APP gene using the MinION sequencer. https://doi.org/10.4172/jngsa.1000125

The MinION is a bench top sequencer by Oxford nanopore technologies (ONT) that allows long reads of DNA sequence. Few studies have tested whether polymorphisms can be detected using this device. Several polymorphisms within the APP gene were used to... Read More about Identifying polymorphisms in the Alzheimer's related APP gene using the MinION sequencer.