Helen E. Lockstone

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.

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.

This study compares metabolic profiles in aortic stenosis and hypertrophic cardiomyopathy, identifying distinct substrate utilization patterns and PPAR- signaling differences.

This paper describes a method using DSP fixation to preserve single cells for RNA sequencing, showing it maintains RNA complexity and reduces technical variability.