Next generation sequencing includes whole exome sequencing (WES) and whole genome sequencing (WGS) and analysis on large numbers of well characterized subjects to identify AD risk and protective gene variants (niagads.org)
Making a definitive diagnosis: successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease. (clinicallab.org)
Tsuboi M, Watanabe M, Nibe K, Yoshimi N, Kato A, Sakaguchi M, et al. (2017) Identification of the PLA2G6 c. 1579G > A Missense Mutation in Papillon Dog Neuroaxonal Dystrophy Using Whole Exome Sequencing Analysis. (optigen.com)