Matthew Hobbs

Pathogenic mitochondrial genome variation, heteroplasmy thresholding and mitochondrial constraint measures in a healthy older cohort

The paper analyzes mitochondrial DNA variation in a healthy older cohort, identifies pathogenic variants, and proposes improved heteroplasmy thresholding to reduce false positives.

Mitochondrial Disease variation in healthy older adults: a genotype-phenotype assessment linking pathogenic variants and mitochondrial constraint

The paper assesses mitochondrial disease variants and genome constraint in healthy older adults, finding no significant phenotype associations but suggesting constraint measures may relate to aging biomarkers.

Transcription initiation RNAs are associated with chromatin activation mark H3K4me3

The paper identifies tiRNAs as small RNAs associated with H3K4me3-marked chromatin in murine macrophages, showing their enrichment near transcription initiation sites.