Shannon K. McDonnell

The paper introduces nanoASM, a method for allele-specific methylation analysis using long-read sequencing, identifying functional noncoding variants in prostate cancer.

This paper uses nanopore long-read sequencing to characterize native CpG methylation and identify allele-specific methylation regions in the prostate genome.

This study identifies genetic risk factors for FTLD-TDP subtypes using whole-genome sequencing and meta-analysis across multiple cohorts.

Admix-kit provides tools for genetic analysis of admixed populations, enabling simulation, association testing, and polygenic scoring.

This paper evaluates how sample size affects polygenic hazard score models for prostate cancer, finding that 20-30k samples are needed for discovery models, but 10k suffice if SNPs are pre-established.

The paper evaluates a polygenic hazard score for prostate cancer screening, showing it improves positive predictive value by adjusting screening age based on genetic risk.