Expansions of gene-specific DNA tandem repeats (TRs), first described in 1991 as a
disease-causing mutation in humans, are now known to cause> 60 phenotypes, not just …

About 80% of brain disorders have a genetic basis. The pathogenesis of most
neurodegenerative diseases is associated with a myriad of genetic defects, epigenetic …

Tandem repeat (TR) expansion is the underlying cause of over 40 neurological disorders.
Long-read sequencing offers an exciting avenue over conventional technologies for …

Compromised protein homeostasis underlies accumulation of plaques and tangles in
Alzheimer's disease (AD). To observe protein turnover at early stages of amyloid beta (Aβ) …

Background Nuclear protein in testis (NUT) carcinoma (NC) is a rare and aggressive
undifferentiated carcinoma that typically arises from midline supradiaphragmatic structures …

Limbic-predominant age-related TDP-43 encephalopathy neuropathologic change (LATE-
NC) and hippocampal sclerosis of aging (HS-A) pathologies are found together at autopsy …

We introduce Giraffe, a pangenome short read mapper that can efficiently map to a
collection of haplotypes threaded through a sequence graph. Giraffe, part of the variation …

Adaptin proteins (APs) play a crucial role in intracellular cell trafficking. The 'classical'role of
APs is carried out by AP1‒3, which bind to clathrin, cargo, and accessory proteins …

We recently reported evidence of Alzheimer's disease (AD)-linked genetic variation within
the mucin 6 (MUC6) gene on chromosome 11p, nearby the adaptor-related protein complex …

Aims The heterotetrameric assembly protein complex 2 (AP‐2) is a central hub for clathrin‐
dependent endocytosis. The AP‐2 α‐adaptin subunit has two major isoforms, encoded by …