Sarah Lamble

TL;DR: It is found that jointly calling variants across samples, filtering against both local and external databases, deploying multiple annotation tools and using familial transmission above biological plausibility contributed to accuracy.

TL;DR: A modified protocol is produced which harnesses the full power of the Nextera kit and allows the reproducible construction of libraries on a high-throughput scale reducing the associated cost of the kit.

TL;DR: A comparative analysis of 324 S. aureus and S. epidermidis genomes provided a context for considering the nature of recombinational boundaries between these ecologically similar staphylococcal species and, the selective forces that influence realized recombination between these species.

TL;DR: The underlying evolutionary mechanisms of opportunistic pathogenicity are addressed by combining pangenome-wide association studies and laboratory microbiology to compare S. epidermidis from bloodstream and wound infections and asymptomatic carriage and Random Forest model prediction of disease status is identified with 80% accuracy.

TL;DR: It is concluded that cognitive impairment is an integral part of this novel recessive ataxic syndrome, Spectrin-associated Autosomal Recessive Cerebellar Ataxia type 1 (SPARCA1), which includes SCA5, SPARCA 1, and a form of West syndrome.