Justin P. Whalley

Do Geometric Outliers Identify Important Genes in Single-Cell Foundation Models?

This study evaluates whether geometric outliers in single-cell foundation models identify important genes, finding model-specific patterns without consistent biological significance.

Aged brain multi-omic integration captures immunometabolic and sex variation

This study integrates multi-omic data from aged human brains to identify immunometabolic and sex-related aging patterns.

Natural Killer cells demonstrate distinct eQTL and transcriptome-wide disease associations, highlighting their role in autoimmunity

The paper identifies eQTL specific to NK cells and links them to autoimmunity through transcriptome-wide association studies.

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.

Framework For Quality Assessment Of Whole Genome, Cancer Sequences

The paper introduces a framework for assessing the quality of whole genome cancer sequences using a star rating system based on five QC measures, providing a tool for researchers to evaluate and exclude low-quality data.