Article
Alzheimer's disease: rare variants with large effect sizes.
Current opinion in genetics & development - 1 Aug 2015
Del-Aguila Jorge L, Koboldt Daniel C, Black Kathleen, Chasse Rachel, Norton Joanne, Wilson Richard K, Cruchaga Carlos
Abstract excerpt
Recent advances in sequencing technology and novel genotyping arrays (focused on low-frequency and coding variants) have made it possible to identify novel coding variants with large effect sizes and also novel genes (TREM2, PLD3, UNC5C, and AKAP9) associated with Alzheimer's disease (AD) risk. The major advantages of these studies over the classic genome-wide association studies (GWAS) include the identification...
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