Dysregulation of RNA splicing contributes to both rare and complex diseases. RNA-sequencing
data from human tissues has shown that this process can be inaccurate, resulting in the …

Mitochondrial dysfunction contributes to the pathogenesis of many neurodegenerative
diseases. The mitochondrial genome encodes core respiratory chain proteins, but the vast …

Abstract Knowledge of genomic features specific to the human lineage may provide insights
into brain-related diseases. We leverage high-depth whole genome sequencing data to …

Improvements in functional genomic annotation have led to a critical mass of neurogenetic
discoveries. This is exemplified in hereditary ataxia, a heterogeneous group of disorders …

Sequencing of SARS-CoV-2 in wastewater provides a key opportunity to monitor the prevalence
of variants spatiotemporally, potentially facilitating their detection simultaneously with, …

We present ensemblQueryR, an R package for querying Ensembl linkage disequilibrium (LD)
endpoints. This package is flexible, fast and user-friendly, and optimised for high-…

Amazon Simple Storage Service (Amazon S3) is a widely used platform for storing large
biomedical datasets. Unintended data alterations can occur during data writing and transmission…

ABSTRACT Knowledge of genomic features specific to the human lineage may provide insights
into brain-related diseases. We leverage high-depth whole genome sequencing data to …

Mitochondrial dysfunction contributes to the pathogenesis of many neurodegenerative diseases
as mitochondria are essential to neuronal function. The mitochondrial genome encodes …

Neurodegenerative diseases (NDs) are progressive neurological conditions that affect
millions of people worldwide and yet there are few treatments that can prevent or slow …