We continue to be a contributor to the reanalysis of large tracts of genome wide association data and much of this work, which identifies several new loci, and a converging molecular pathway, has been published. We have expanded this work to characterize the extent of genetic variability at the CLU and PICALM loci, and to examine the role of variants in these and other loci as quantitative trait loci. In this respect our efforts have used the reference data generated within our laboratory that facilitates testing association between candidate variants and gene expression and/or proximal DNA methylation. In addition, we are currently working with collaborators at UCL to perform exome sequencing on families and individuals with Alzheimer's disease; this work aims to identify moderate- to high-risk variants associated with disease. Most recently our efforts using second generation sequencing have lead to the identification of TREM2 and TREML2, and PLD3 variants as a risk factor for Alzheimer's disease. We have followed up on that work with continued characterization of known AD loci in relatively small series of patients. We are contributing members to consortia that continue to investigate various aspects of AD genetics.
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