Long-read sequencing technologies substantially overcome the limitations of short-reads but
have not been considered as a feasible replacement for population-scale projects, being a …

Background An understanding of the genetic mechanisms underlying diseases in ancestrally
diverse populations is an important step towards development of targeted treatments. …

Parkinson’s disease has a large heritable component and genome-wide association studies
have identified over 90 variants with disease-associated common variants, providing …

Objective Identification of genetic risk factors for Parkinson disease (PD) has to date been
primarily limited to the study of single nucleotide variants, which only represent a small fraction …

We characterized the role of structural variants, a largely unexplored type of genetic variation,
in two non-Alzheimer's dementias, namely Lewy body dementia (LBD) and frontotemporal …

Background Understanding the genetic mechanisms underlying diseases in ancestrally diverse
populations is a critical step towards the realization of the global application of precision …

Neurodegeneration with brain iron accumulation (NBIA) represents a group of neurodegenerative
disorders characterized by abnormal iron accumulation in the brain. In Parkinson’s …

Open science and collaboration are necessary to facilitate the advancement of Parkinson’s
disease (PD) research. Hackathons are collaborative events that bring together people with …

In recent decades, genetic research has nominated promising pathways and biological insights
contributing to the etiological landscape of parkinsonism-related dystonias and atypical …

Background Spinocerebellar ataxia type 4 (SCA4) is an autosomal dominant ataxia with
invariable sensory neuropathy originally described in a family with Swedish ancestry residing in …