The tauopathies encompass over 20 adult neurodegenerative diseases and are
characterized by the dysfunction and accumulation of insoluble tau protein. Among them …

Predicting the function of noncoding variation is a major challenge in modern genetics. In
this study, we used massively parallel reporter assays to screen 5706 variants identified …

The impact of chromosomal inversions on human brain morphology remains underexplored.
We studied 35 common inversions classified from genotypes of 33,018 adults with European …

Background Comorbidity exists between amyotrophic lateral sclerosis (ALS) and
Parkinson's disease (PD), but the role of genetic factors is unclear. Objective We aim to …

A~ 1 Mb inversion polymorphism exists within the 17q21. 31 locus of the human genome as
direct (H1) and inverted (H2) haplotype clades. This inversion region demonstrates high …

Single-cell transcriptomic studies have identified a conserved set of neocortical cell types
from small postmortem cohorts. We extended these efforts by assessing cell type variation …

To characterize the dysregulation of chromatin accessibility in Alzheimer's disease (AD), we
generated 636 ATAC-seq libraries from neuronal and nonneuronal nuclei isolated from the …

Tauopathies are a group of neurodegenerative diseases defined by abnormal aggregates of
tau, a microtubule-associated protein encoded by MAPT. MAPT expression is near absent in …

Background The hippocampus, with its complex subfields, is linked to numerous
neuropsychiatric traits. While most research has focused on its global structure or a few …

Background SINE-VNTR-Alu (SVA) retrotransposons are hominid-specific elements which
have been shown to play important roles in processes such as chromatin structure …