Whole-Genome Sequencing Analysis Reveals New Susceptibility Loci and Structural Variants Associated with Progressive Supranuclear Palsy.

Progressive supranuclear palsy (PSP) is a neurodegenerative disease characterized by the accumulation of aggregated tau proteins in astrocytes, neurons, and oligodendrocytes. We performed whole genome sequencing (WGS) and conducted association analysis for single nucleotide variants (SNVs), small insertions/deletions (indels), and structural variants (SVs) in a cohort of 1,718 individuals with PSP and 2,944 control subjects. Analysis of common SNVs and indels confirmed known genetic loci at