Kimberley J. Billingsley

Cell-type-resolved somatic variant discovery from bulk long-read sequencing

APOE-stratified genome-wide association analyses provide insights into the genetic etiology of Alzheimers’s disease

Understanding of the genetic architecture of AD in the context of its main genetic driver is improved, and APOE-stratified insights may help understand and overcome side effects, inform clinical trial enrollment strategies, and create the scientific basis for targeted, mechanism-driven therapies in neurodegenerative di...

SALRR: Scalable Analysis of Long-Read RNA-Seq Enables Comprehensive Transcriptome Profiling in Human Brain

An integrated wet-lab and computational platform designed to overcome barriers to population-scale long-read RNA sequencing, providing a scalable, community-ready framework for isoform-resolved transcriptomics in neurodegeneration, aging, and complex brain disease.

CNV-Finder: streamlining copy number variation discovery

Abstract Motivation Copy Number Variations (CNVs) play pivotal roles in complex disease etiology, often requiring large sample sizes to analyze disease associations. While genotyping arrays offer a cost-effective approach for CNV detection using Log R Ratio (LRR) and B Allele Frequency (BAF) signals, existing independe...