Matthew D. Parker

This study identifies distinct astrocyte states in C9orf72 expansion carriers discordant for ALS, linking epigenetic changes, stress, and functional dysfunction to disease onset.

The paper analyzes SARS-CoV-2 genomic sequences from Sri Lanka to track lineage prevalence and transmission patterns, finding B.1.411 was dominant until B.1.1.7 replaced it in late 2020.

Periscope identifies and quantifies sub-genomic RNAs in SARS-CoV-2 genomic data, detecting canonical and non-canonical sgRNAs with high fidelity.

The paper shows that B.1.1.7 SARS-CoV-2 lineage has increased subgenomic RNA expression compared to other lineages, with a noncanonical sgRNA near ORF9b showing a 16-fold increase in median expression.

This study evaluates the use of Oxford Nanopore MinION long-read sequencing for detecting mtDNA deletions in mitochondrial disease diagnostics, finding it effective for large deletions but less reliable for single nucleotide variants.