Hannah Roberts

Lifespan of male and female APP/PS1 and APPNL-F/NL-F mouse models of Alzheimer's disease

This study analyzes lifespan differences between male and female Alzheimer's disease mouse models, finding significant sex-based survival variations in two AD models.

An autosomal dominant cardiac arrhythmia syndrome, ST Depression Syndrome, is caused by the de novo creation of a cardiomyocyte enhancer.

The paper identifies a de novo enhancer mutation in KCNB1 causing ST Depression Syndrome, a cardiac arrhythmia, and shows it can be predicted by a deep neural network.

Using de novo assembly to identify structural variation of complex immune system gene regions

The paper uses long-read sequencing and de novo assembly to identify structural variation in immune system gene regions from a single individual, revealing challenges in current variant calling methods.

Short and long-read genome sequencing methodologies for somatic variant detection; genomic analysis of a patient with diffuse large B-cell lymphoma

This study evaluates the ability of long-read sequencing to detect somatic variants in a lymphoma patient, highlighting the need for specialized tools and the advantages of long reads for structural variants.

Illumina and Nanopore methods for whole genome sequencing of hepatitis B virus (HBV)

This paper describes a method to generate full-length HBV genome data using isothermal amplification and sequencing with Nanopore and Illumina, achieving high consensus accuracy and resolving intra-sample variants.